Name

RNU6-67P Gene

RNA, U6 small nuclear 67, pseudogene

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

RNU6-69P Gene

RNA, U6 small nuclear 69, pseudogene

RNU6-64P Gene

RNA, U6 small nuclear 64, pseudogene

RNU6-63P Gene

RNA, U6 small nuclear 63, pseudogene

RNU7-65P Gene

RNA, U7 small nuclear 65 pseudogene

RNU6-66P Gene

RNA, U6 small nuclear 66, pseudogene

RNU7-60P Gene

RNA, U7 small nuclear 60 pseudogene

RNU7-68P Gene

RNA, U7 small nuclear 68 pseudogene

GS1-600G8.3 Gene

unknown transcript

RNU7-66P Gene

RNA, U7 small nuclear 66 pseudogene

RNU6-68P Gene

RNA, U6 small nuclear 68, pseudogene

RNU7-61P Gene

RNA, U7 small nuclear 61 pseudogene

RNU7-63P Gene

RNA, U7 small nuclear 63 pseudogene

RNU7-69P Gene

RNA, U7 small nuclear 69 pseudogene

IGHV3-64D Gene

immunoglobulin heavy variable 3-64D

RNU7-64P Gene

RNA, U7 small nuclear 64 pseudogene

IGHV1-69D Gene

immunoglobulin heavy variable 1-69D

RNU7-67P Gene

RNA, U7 small nuclear 67 pseudogene

LL22NC03-63E9.3 Gene

uncharacterized LOC648691

LOC390614 Gene

relaxin/insulin-like family peptide receptor 3 pseudogene

RXFP1 Gene

relaxin/insulin-like family peptide receptor 1

This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RXFP3 Gene

relaxin/insulin-like family peptide receptor 3

RXFP2 Gene

relaxin/insulin-like family peptide receptor 2

This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

RXFP4 Gene

relaxin/insulin-like family peptide receptor 4

GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]

IGFBPL1 Gene

insulin-like growth factor binding protein-like 1

SPPL3 Gene

signal peptide peptidase like 3

SCUBE2 Gene

signal peptide, CUB domain, EGF-like 2

SCUBE3 Gene

signal peptide, CUB domain, EGF-like 3

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCUBE1 Gene

signal peptide, CUB domain, EGF-like 1

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]

LOC100132647 Gene

signal peptide peptidase like 3 pseudogene

GALP Gene

galanin-like peptide

This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014]

TPRXL Gene

tetra-peptide repeat homeobox-like

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]

SPPL2A Gene

signal peptide peptidase like 2A

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

SPPL2C Gene

signal peptide peptidase like 2C

SPPL2B Gene

signal peptide peptidase like 2B

This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

QPCTL Gene

glutaminyl-peptide cyclotransferase-like

LOC100420615 Gene

signal peptide peptidase like 2A pseudogene

GLP2R Gene

glucagon-like peptide 2 receptor

This gene encodes a G protein-coupled receptor that is closely related to the glucagon receptor and binds to glucagon-like peptide-2 (GLP2). Signalling through GLP2 stimulates intestinal growth and increases villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]

GLP1R Gene

glucagon-like peptide 1 receptor

IGF2R Gene

insulin-like growth factor 2 receptor

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013]

INSL5 Gene

insulin-like 5

The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]

INSL4 Gene

insulin-like 4 (placenta)

INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]

INSL6 Gene

insulin-like 6

The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]

INSL3 Gene

insulin-like 3 (Leydig cell)

This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

IGF2 Gene

insulin-like growth factor 2

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

IGF1 Gene

insulin-like growth factor 1 (somatomedin C)

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

IGFALS Gene

insulin-like growth factor binding protein, acid labile subunit

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

IGFBP2 Gene

insulin-like growth factor binding protein 2, 36kDa

IGFBP3 Gene

insulin-like growth factor binding protein 3

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

IGFBP1 Gene

insulin-like growth factor binding protein 1

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]

IGFBP7 Gene

insulin-like growth factor binding protein 7

This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]

IGFBP4 Gene

insulin-like growth factor binding protein 4

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]

IGFBP5 Gene

insulin-like growth factor binding protein 5

IGF2BP1 Gene

insulin-like growth factor 2 mRNA binding protein 1

This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

IGF2BP2 Gene

insulin-like growth factor 2 mRNA binding protein 2

This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternative promoter usage and alternate splicing result in multiple variants encoding different isoforms. [provided by RefSeq, May 2014]

LOC346296 Gene

insulin-like growth factor 2 mRNA binding protein 3 pseudogene

IGFBP6 Gene

insulin-like growth factor binding protein 6

IGF2BP3 Gene

insulin-like growth factor 2 mRNA binding protein 3

The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]

LOC727884 Gene

insulin-like growth factor 2 mRNA binding protein 2 pseudogene

LOC645468 Gene

insulin-like growth factor 2 mRNA binding protein 3 pseudogene

LOC100421893 Gene

insulin-like growth factor 2 mRNA binding protein 2 pseudogene

IGF1R Gene

insulin-like growth factor 1 receptor

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

PYY Gene

peptide YY

The protein encoded by this gene is proteolytically processed to release a peptide that inhibits pancreatic secretion and mobility in the gut. Rare variations in this gene could increase susceptibility to obesity. [provided by RefSeq, Jul 2010]

PYY2 Gene

peptide YY, 2 (pseudogene)

PYY3 Gene

peptide YY, 3 (pseudogene)

QPCT Gene

glutaminyl-peptide cyclotransferase

This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]

APEH Gene

acylaminoacyl-peptide hydrolase

This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

QRFP Gene

pyroglutamylated RFamide peptide

The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM, Mar 2008]

LOC100288484 Gene

formyl peptide receptor 1 pseudogene

HAMP Gene

hepcidin antimicrobial peptide

The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]

NPPA Gene

natriuretic peptide A

The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. [provided by RefSeq, Sep 2009]

VIPR2 Gene

vasoactive intestinal peptide receptor 2

This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]

VIPR1 Gene

vasoactive intestinal peptide receptor 1

This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NPR2 Gene

natriuretic peptide receptor 2

This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]

NPR3 Gene

natriuretic peptide receptor 3

This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

TPRX1 Gene

tetra-peptide repeat homeobox 1

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]

GRPR Gene

gastrin-releasing peptide receptor

Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008]

GRP Gene

gastrin-releasing peptide

This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. Its preproprotein, following cleavage of a signal peptide, is further processed to produce either the 27 aa gastrin-releasing peptide or the 10 aa neuromedin C. These smaller peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

QRFPR Gene

pyroglutamylated RFamide peptide receptor

CAMP Gene

cathelicidin antimicrobial peptide

This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014]

NPPB Gene

natriuretic peptide B

This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Nov 2014]

NPPC Gene

natriuretic peptide C

The protein encoded by this gene is proteolytically processed to form a secreted hormone of the natriuretic peptide family. The encoded hormone regulates the growth and differentiation of cartilaginous growth plate chondrocytes and may also be vasoactive and natriuretic. [provided by RefSeq, Sep 2011]

NPR1 Gene

natriuretic peptide receptor 1

Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]

MEP1A Gene

meprin A, alpha (PABA peptide hydrolase)

FPR1 Gene

formyl peptide receptor 1

This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]

FPR2 Gene

formyl peptide receptor 2

FPR3 Gene

formyl peptide receptor 3

TPRX2P Gene

tetra-peptide repeat homeobox 2 pseudogene

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]

VIP Gene

vasoactive intestinal peptide

The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2014]

NPFF Gene

neuropeptide FF-amide peptide precursor

FMFRamide-related protein precursor plays a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. FMRFAL encodes a preproprotein which is cleaved to form two active peptides with similar function. [provided by RefSeq, Jul 2008]

TPRX1P1 Gene

tetra-peptide repeat homeobox 1 pseudogene 1

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]

LEAP2 Gene

liver expressed antimicrobial peptide 2

This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]

PDF Gene

peptide deformylase (mitochondrial)

Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008]

INSR Gene

insulin receptor

After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NIDDM2 Gene

non-insulin-dependent diabetes mellitus (common, type 2) 2

NIDDM1 Gene

non-insulin-dependent diabetes mellitus (common, type 2) 1

IDDM18 Gene

insulin-dependent diabetes mellitus 18

IDDM15 Gene

insulin-dependent diabetes mellitus 15

IDDM13 Gene

insulin-dependent diabetes mellitus 13

IDDM11 Gene

insulin-dependent diabetes mellitus 11

IRS3P Gene

insulin receptor substrate 3, pseudogene

IDDM24 Gene

Diabetes mellitus, insulin-dependent, 24

IDDM23 Gene

Diabetes mellitus, insulin-dependent, 23

INSIG1 Gene

insulin induced gene 1

Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jun 2009]

IDDM17 Gene

insulin-dependent diabetes mellitus 17

IDDM16 Gene

insulin-dependent diabetes mellitus 16

IDDM14 Gene

insulin-dependent diabetes mellitus 14

INS Gene

insulin

After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

IRS4 Gene

insulin receptor substrate 4

IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]

IRS1 Gene

insulin receptor substrate 1

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

IRS2 Gene

insulin receptor substrate 2

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]

AIR Gene

Acute insulin response (2)

FIQTL1 Gene

fasting glucose and specific insulin levels

INSRR Gene

insulin receptor-related receptor

IDE Gene

insulin-degrading enzyme

This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]

INSIG2 Gene

insulin induced gene 2

The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]

IDDMX Gene

Diabetes mellitus, insulin-dependent, X-linked, susceptibility to

IDDM7 Gene

insulin-dependent diabetes mellitus 7

IDDM6 Gene

insulin-dependent diabetes mellitus 6

IDDM4 Gene

insulin-dependent diabetes mellitus 4

IDDM3 Gene

insulin-dependent diabetes mellitus 3

IDDM9 Gene

insulin-dependent diabetes mellitus 9

IDDM8 Gene

insulin-dependent diabetes mellitus 8

RFPL4AL1 Gene

ret finger protein-like 4A-like 1

LOC102724187 Gene

uroplakin-3b-like protein-like

LOC101929812 Gene

putative POM121-like protein 1-like

LOC102725182 Gene

putative POM121-like protein 1-like

GNL3LP1 Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1

TMEFF1 Gene

transmembrane protein with EGF-like and two follistatin-like domains 1

TMEFF2 Gene

transmembrane protein with EGF-like and two follistatin-like domains 2

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GNL3L Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like

The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

LOC100131471 Gene

presenilins-associated rhomboid-like protein, mitochondrial-like

LOC101927789 Gene

putative ubiquitin-like protein FUBI-like protein ENSP00000310146

LOC402329 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC102724995 Gene

putative POM121-like protein 1-like

ITGBL1 Gene

integrin, beta-like 1 (with EGF-like repeat domains)

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

EDIL3 Gene

EGF-like repeats and discoidin I-like domains 3

The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]

LOC728093 Gene

putative POM121-like protein 1-like

LOC105373377 Gene

putative paraneoplastic antigen-like protein 6B-like protein LOC649238

LOC649352 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC729545 Gene

WBSCR19-like protein 5-like

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LOC105369229 Gene

putative POM121-like protein 1-like

LOC727983 Gene

putative POM121-like protein 1-like

LOC101929599 Gene

putative POM121-like protein 1-like

LOC100131546 Gene

endothelin-converting enzyme-like 1-like

LOC100652833 Gene

putative POM121-like protein 1-like

LOC649201 Gene

paraneoplastic antigen like 6A-like

LOC100506217 Gene

putative POM121-like protein 1-like

LOC100289279 Gene

contactin associated protein-like 3-like

LOC101929573 Gene

putative POM121-like protein 1-like

FAM220CP Gene

putative SIPAR-like protein C9orf51-like

LOC649238 Gene

putative paraneoplastic antigen-like protein 6B-like

LOC392187 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC441098 Gene

putative POM121-like protein 1-like

RASAL1 Gene

RAS protein activator like 1 (GAP1 like)

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]

LOC102724994 Gene

putative POM121-like protein 1-like

ARL14EPL Gene

ADP-ribosylation factor-like 14 effector protein-like

LOC100128467 Gene

nuclear distribution protein nudE-like 1-like

LOC102724602 Gene

COMM domain-containing protein 6-like

LOC651959 Gene

FSHD region gene 2-like

CPHL1P Gene

ceruloplasmin and hephaestin-like 1 pseudogene

LOC101929026 Gene

zinc-activated ligand-gated ion channel-like

USP17L30 Gene

ubiquitin specific peptidase 17-like family member 30

LOC105379427 Gene

zinc finger protein 717-like

LOC649935 Gene

UPF0607 protein ENSP00000381514-like

PHOX2A Gene

paired-like homeobox 2a

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]

PHOX2B Gene

paired-like homeobox 2b

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008]

LOC105371469 Gene

endogenous retrovirus group K member 8 Gag polyprotein-like

LOC101927006 Gene

40S ribosomal protein SA-like

LOC101060569 Gene

golgin subfamily A member 6-like protein 1

LOC105369269 Gene

poly(ADP-ribose) glycohydrolase-like

CLK2P1 Gene

CDC-like kinase 2, pseudogene 1

SEZ6L Gene

seizure related 6 homolog (mouse)-like

DMRTB1 Gene

DMRT-like family B with proline-rich C-terminal, 1

LOC105378958 Gene

adhesive plaque matrix protein-like

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378952 Gene

Krueppel-like factor 17

LOC105378950 Gene

mitogen-activated protein kinase 7-like

LOC105378951 Gene

collagen alpha-1(III) chain-like

LOC101930347 Gene

collagen alpha-2(I) chain-like

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

RPL36AL Gene

ribosomal protein L36a-like

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

LOC102724978 Gene

atherin-like

GALNTL5 Gene

polypeptide N-acetylgalactosaminyltransferase-like 5

GALNTL6 Gene

polypeptide N-acetylgalactosaminyltransferase-like 6

LOC729468 Gene

putative PGM5-like protein 1

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

LOC100420096 Gene

IGF-like family receptor 1 pseudogene

FTCDNL1 Gene

formiminotransferase cyclodeaminase N-terminal like

LMBR1L Gene

limb development membrane protein 1-like

TRIML2 Gene

tripartite motif family-like 2

This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

TRIML1 Gene

tripartite motif family-like 1

LOC101926982 Gene

protein GVQW1-like

LOC101926986 Gene

glioma tumor suppressor candidate region gene 1 protein-like

DUX4L7 Gene

double homeobox 4 like 7

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L6 Gene

double homeobox 4 like 6

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L5 Gene

double homeobox 4 like 5

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L4 Gene

double homeobox 4 like 4

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L3 Gene

double homeobox 4 like 3

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L2 Gene

double homeobox 4 like 2

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L9 Gene

double homeobox 4 like 9

DUX4L8 Gene

double homeobox 4 like 8

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

LOC100421597 Gene

peptidylprolyl isomerase (cyclophilin)-like 4 pseudogene

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]

LOC102724345 Gene

ADP-ribosylation factor-like 17A pseudogene

LOC105369146 Gene

cadherin-related family member 4-like

CSHL1 Gene

chorionic somatomammotropin hormone-like 1

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

REXO1L9P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene

EPB41L1 Gene

erythrocyte membrane protein band 4.1-like 1

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

EPB41L3 Gene

erythrocyte membrane protein band 4.1-like 3

EPB41L2 Gene

erythrocyte membrane protein band 4.1-like 2

EPB41L5 Gene

erythrocyte membrane protein band 4.1 like 5

LOC105379705 Gene

olfactory receptor 4F6-like

LOC101927309 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like

UFD1L Gene

ubiquitin fusion degradation 1 like (yeast)

The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

LOC101059914 Gene

protein FAM218A-like

LOC101059915 Gene

uncharacterized protein CXorf49-like

LOC100422227 Gene

small ubiquitin-like modifier 1 pseudogene

ETV3L Gene

ets variant 3-like

KCP Gene

kielin/chordin-like protein

SIGLEC27P Gene

sialic acid binding Ig-like lectin 27, pseudogene

LOC100129274 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) pseudogene

LOC729603 Gene

calcineurin-like EF-hand protein 1 pseudogene

This locus on chromosome 6q25.3 represents a single-exon transcribed pseudogene of the multi-exon calcium binding protein P22 gene which resides on chromosome 15q13.3. This pseudogene is situated within an intron region of the insulin-like growth factor 2 receptor gene (IGF2R). [provided by RefSeq, Jan 2009]

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

NDEL1 Gene

nudE neurodevelopment protein 1-like 1

This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]

PLAC8L1 Gene

PLAC8-like 1

SP140L Gene

SP140 nuclear body protein-like

LOC100287485 Gene

glycine-N-acyltransferase-like 2 pseudogene

LOC105369262 Gene

splicing factor 45-like

LOC105369260 Gene

double homeobox protein 4-like

UNKL Gene

unkempt family zinc finger-like

This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

PPP1R13L Gene

protein phosphatase 1, regulatory subunit 13 like

IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]

TMC5 Gene

transmembrane channel-like 5

LOC100128238 Gene

KIAA0895-like pseudogene

LOC105373347 Gene

periphilin-1-like

LOC400736 Gene

PRAME family member-like

LOC105379419 Gene

Ig kappa chain V-I region Walker-like

GAS2L1 Gene

growth arrest-specific 2 like 1

This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Jul 2013]

GAS2L3 Gene

growth arrest-specific 2 like 3

GAS2L2 Gene

growth arrest-specific 2 like 2

The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]

HN1L Gene

hematological and neurological expressed 1-like

LOC105371478 Gene

breakpoint cluster region protein-like

LOC100128958 Gene

ferredoxin 1-like pseudogene

LOC105374156 Gene

protein FAM188B2-like

ESPNL Gene

espin-like

LOC102725029 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC105369154 Gene

polycystin-1-like

LOC285299 Gene

FSHD region gene 2 family, member C-like

LOC101929349 Gene

activator of 90 kDa heat shock protein ATPase homolog 2-like

NPEPL1 Gene

aminopeptidase-like 1

CLMN Gene

calmin (calponin-like, transmembrane)

CLMP Gene

CXADR-like membrane protein

The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM, Mar 2008]

ASXL1 Gene

additional sex combs like transcriptional regulator 1

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

ASXL3 Gene

additional sex combs like transcriptional regulator 3

ASXL2 Gene

additional sex combs like transcriptional regulator 2

ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009]

LOC152845 Gene

pleiomorphic adenoma gene-like 2 pseudogene

CSNK1A1L Gene

casein kinase 1, alpha 1-like

PDCL Gene

phosducin-like

Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]

LOC101060006 Gene

NANOG neighbor homeobox-like

LOC101060000 Gene

dnaJ homolog subfamily B member 6-like

LOC340268 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

LOC102724181 Gene

rhophilin-2-like

LOC102724184 Gene

DNA (cytosine-5)-methyltransferase 3-like

LOC105376811 Gene

laminin subunit beta-2-like

LOC102724728 Gene

putative POM121-like protein 1

LOC102724727 Gene

protein FRG1B-like

LOC102724726 Gene

coxsackievirus and adenovirus receptor-like

CRYZL1 Gene

crystallin, zeta (quinone reductase)-like 1

This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]

LOC100996316 Gene

ankyrin repeat domain-containing protein 20A2-like

SIPA1L1 Gene

signal-induced proliferation-associated 1 like 1

SIPA1L2 Gene

signal-induced proliferation-associated 1 like 2

IGKDEL Gene

immunoglobulin kappa deleting element or like

SUPV3L1 Gene

suppressor of var1, 3-like 1 (S. cerevisiae)

LMAN1L Gene

lectin, mannose-binding, 1 like

RBPJL Gene

recombination signal binding protein for immunoglobulin kappa J region-like

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

KIAA1324L Gene

KIAA1324-like

LOC101929818 Gene

killer cell immunoglobulin-like receptor 3DL1

LOC101929815 Gene

D(1B) dopamine receptor-like

CLUL1 Gene

clusterin-like 1 (retinal)

GOLGA6L6 Gene

golgin A6 family-like 6

KLHL10 Gene

kelch-like family member 10

KLHL11 Gene

kelch-like family member 11

KLHL12 Gene

kelch-like family member 12

This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

KLHL13 Gene

kelch-like family member 13

This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

KLHL14 Gene

kelch-like family member 14

KLHL15 Gene

kelch-like family member 15

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

KLHL17 Gene

kelch-like family member 17

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

KLHL18 Gene

kelch-like family member 18

LOC442161 Gene

ribosomal protein L7-like 1 pseudogene

LOC100130632 Gene

zinc finger protein 530-like

GOLGA6L12P Gene

golgin A6 family-like 12, pseudogene

LOC100652871 Gene

glutathione S-transferase theta-4-like

SLK Gene

STE20-like kinase

SLA Gene

Src-like-adaptor

N4BP2L1 Gene

NEDD4 binding protein 2-like 1

N4BP2L2 Gene

NEDD4 binding protein 2-like 2

FLJ44635 Gene

TPT1-like protein

SGOL1P2 Gene

shugoshin-like 1 (S. pombe) pseudogene 2

LOC101927579 Gene

dynamin-1-like

TPD52L2 Gene

tumor protein D52-like 2

This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]

TPD52L3 Gene

tumor protein D52-like 3

This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TPD52L1 Gene

tumor protein D52-like 1

This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq, Jul 2008]

CAPSL Gene

calcyphosine-like

LOC105375354 Gene

postmeiotic segregation increased 2-like protein 5

LOC100129340 Gene

mitofusin-1-like

MYADML2 Gene

myeloid-associated differentiation marker-like 2

RIMKLA Gene

ribosomal modification protein rimK-like family member A

RIMKLB Gene

ribosomal modification protein rimK-like family member B

LOC100421100 Gene

RNA terminal phosphate cyclase-like 1 pseudogene

PBLD Gene

phenazine biosynthesis-like protein domain containing

LOC105379539 Gene

tyrosine-protein phosphatase non-receptor type 23-like

LOC105379538 Gene

putative HERC2-like protein 3

LOC100506922 Gene

atherin-like

RBBP8NL Gene

RBBP8 N-terminal like

LOC105371176 Gene

Ig heavy chain V-III region VH26-like

DOC2GP Gene

double C2-like domains, gamma, pseudogene

LOC101059990 Gene

dnaJ homolog subfamily B member 6-like

ATXN3L Gene

ataxin 3-like

This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]

LOC105369637 Gene

collagen alpha-1(I) chain-like

KIR3DX1 Gene

killer cell immunoglobulin-like receptor, three domains, X1

RD3L Gene

retinal degeneration 3-like

LOC101060089 Gene

cleavage and polyadenylation specificity factor subunit 5-like

CHP1 Gene

calcineurin-like EF-hand protein 1

This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]

NUPL1P1 Gene

nucleoporin like 1 pseudogene 1

LOC101929519 Gene

mucin-2-like

RFFL Gene

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

USP17L3 Gene

ubiquitin specific peptidase 17-like family member 3

USP17L Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein

LOC727930 Gene

chondroitin sulfate proteoglycan 4-like

SKIL Gene

SKI-like proto-oncogene

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC105378176 Gene

proline-rich receptor-like protein kinase PERK2

HSPA4L Gene

heat shock 70kDa protein 4-like

CPSF3L Gene

cleavage and polyadenylation specific factor 3-like

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

RFPL4B Gene

ret finger protein-like 4B

RFPL4A Gene

ret finger protein-like 4A

RILPL1 Gene

Rab interacting lysosomal protein-like 1

RILPL2 Gene

Rab interacting lysosomal protein-like 2

This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

SEL1L3 Gene

sel-1 suppressor of lin-12-like 3 (C. elegans)

SEL1L2 Gene

sel-1 suppressor of lin-12-like 2 (C. elegans)

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

LOC105370705 Gene

collagen alpha-2(I) chain-like

LOC101928879 Gene

COMM domain-containing protein 5-like

LOC105379702 Gene

ice-structuring glycoprotein-like

LOC105379704 Gene

CASP-like protein 4A1

NKIRAS2 Gene

NFKB inhibitor interacting Ras-like 2

NKIRAS1 Gene

NFKB inhibitor interacting Ras-like 1

LOC100420166 Gene

ribosomal protein L7-like 1 pseudogene

GATSL3 Gene

GATS protein-like 3

GATSL2 Gene

GATS protein-like 2

LOC105370815 Gene

serine/arginine repetitive matrix protein 3-like

BCL2L15 Gene

BCL2-like 15

BCL2L14 Gene

BCL2-like 14 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]

BCL2L11 Gene

BCL2-like 11 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]

BCL2L10 Gene

BCL2-like 10 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]

BCL2L13 Gene

BCL2-like 13 (apoptosis facilitator)

This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

BCL2L12 Gene

BCL2-like 12 (proline rich)

This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

FAM27L Gene

family with sequence similarity 27-like

LOC105375109 Gene

skin secretory protein xP2-like

COX7A2L Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. [provided by RefSeq, Jul 2008]

RYK Gene

receptor-like tyrosine kinase

The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

POM121L4P Gene

POM121 transmembrane nucleoporin-like 4 pseudogene

LOC101927923 Gene

small integral membrane protein 12-like

TYRL Gene

tyrosinase-like (pseudogene)

LOC105377133 Gene

basic proline-rich protein-like

LOC105377135 Gene

transcription initiation factor TFIID subunit 4-like

VSNL1 Gene

visinin-like 1

This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

STARD3NL Gene

STARD3 N-terminal like

This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]

ERO1L Gene

ERO1-like (S. cerevisiae)

CBLL1 Gene

Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

LOC105376669 Gene

ret finger protein-like 4A

MTRNR2L8 Gene

MT-RNR2-like 8

NDNL2 Gene

necdin-like 2

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

MTRNR2L3 Gene

MT-RNR2-like 3

MTRNR2L2 Gene

MT-RNR2-like 2

MTRNR2L1 Gene

MT-RNR2-like 1

MTRNR2L7 Gene

MT-RNR2-like 7

MTRNR2L6 Gene

MT-RNR2-like 6

MTRNR2L5 Gene

MT-RNR2-like 5

MTRNR2L4 Gene

MT-RNR2-like 4

FRYL Gene

FRY-like

IGLL1 Gene

immunoglobulin lambda-like polypeptide 1

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IGLL5 Gene

immunoglobulin lambda-like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NARFL Gene

nuclear prelamin A recognition factor-like

LOC100132154 Gene

putative ankyrin repeat domain-containing protein 30B-like

LOC100293704 Gene

serine/arginine repetitive matrix protein 3-like

LOC100507606 Gene

ankyrin repeat domain-containing protein 33B-like

DAPL1 Gene

death associated protein-like 1

LOC102723592 Gene

neurofibromin-like

LOC101060324 Gene

espin-like

LOC101060321 Gene

TBC1 domain family member-like

LOC101060328 Gene

collagen alpha-1(I) chain-like

LOC101929895 Gene

eukaryotic translation initiation factor 3 subunit A-like

UBA6 Gene

ubiquitin-like modifier activating enzyme 6

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

UBA5 Gene

ubiquitin-like modifier activating enzyme 5

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. [provided by RefSeq, Jul 2008]

UBA2 Gene

ubiquitin-like modifier activating enzyme 2

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

UBA3 Gene

ubiquitin-like modifier activating enzyme 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UBA1 Gene

ubiquitin-like modifier activating enzyme 1

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

LOC100506127 Gene

putative uncharacterized protein FLJ37770-like

LOC105373989 Gene

serine/arginine repetitive matrix protein 1-like

RPRML Gene

reprimo-like

LOC100509091 Gene

extracellular matrix protein 2-like

LOC105372585 Gene

formin-like protein 5

LOC100996586 Gene

Ig lambda chain V region 4A-like

LOC101928444 Gene

histone H2B type 1-F/J/L-like

LOC105379840 Gene

bcl-2-binding component 3-like

KATNBL1 Gene

katanin p80 subunit B-like 1

SVOPL Gene

SVOP-like

LOC101927016 Gene

keratin-associated protein 21-1-like

LOC105379252 Gene

coiled-coil domain-containing protein 29-like

LOC105373314 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1

USP6NL Gene

USP6 N-terminal like

SIGLEC30P Gene

sialic acid binding Ig-like lectin 30, pseudogene

CRKL Gene

v-crk avian sarcoma virus CT10 oncogene homolog-like

This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]

LOC100533679 Gene

URI1, prefoldin-like chaperone pseudogene

TSPYL4 Gene

TSPY-like 4

TSPYL5 Gene

TSPY-like 5

TSPYL6 Gene

TSPY-like 6

TSPYL1 Gene

TSPY-like 1

The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]

TSPYL2 Gene

TSPY-like 2

This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]

LOC101060126 Gene

atrophin-1-like

NUMBL Gene

numb homolog (Drosophila)-like

ARL4P2 Gene

ADP-ribosylation factor-like 4 pseudogene 2

GLYATL1P1 Gene

glycine-N-acyltransferase-like 1 pseudogene 1

LDHAL6FP Gene

lactate dehydrogenase A-like 6F, pseudogene

UBL4A Gene

ubiquitin-like 4A

SIGLEC16 Gene

sialic acid binding Ig-like lectin 16 (gene/pseudogene)

SIGLEC14 Gene

sialic acid binding Ig-like lectin 14

SIGLEC15 Gene

sialic acid binding Ig-like lectin 15

SIGLEC12 Gene

sialic acid binding Ig-like lectin 12 (gene/pseudogene)

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SIGLEC10 Gene

sialic acid binding Ig-like lectin 10

SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]

SIGLEC11 Gene

sialic acid binding Ig-like lectin 11

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

RPL7L1P4 Gene

ribosomal protein L7-like 1 pseudogene 4

NCKAP5L Gene

NCK-associated protein 5-like

LOC105376955 Gene

nuclear pore membrane glycoprotein 210-like

LOC105377532 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

LOC391322 Gene

D-dopachrome tautomerase-like

LOC105372013 Gene

basic salivary proline-rich protein 2-like

LOC101929226 Gene

histone H3.3-like

CCL4L1 Gene

chemokine (C-C motif) ligand 4-like 1

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

CCL4L2 Gene

chemokine (C-C motif) ligand 4-like 2

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]

OSGEPL1 Gene

O-sialoglycoprotein endopeptidase-like 1

LOC100130011 Gene

synaptophysin-like 1 pseudogene

FCRL1 Gene

Fc receptor-like 1

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

FCRL2 Gene

Fc receptor-like 2

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]

FCRL3 Gene

Fc receptor-like 3

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq, Jul 2008]

FCRL4 Gene

Fc receptor-like 4

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]

FCRL6 Gene

Fc receptor-like 6

FCRLA Gene

Fc receptor-like A

This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

FCRLB Gene

Fc receptor-like B

FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]

LOC101927519 Gene

tubulin beta-7 chain-like

GFRAL Gene

GDNF family receptor alpha like

TREML3P Gene

triggering receptor expressed on myeloid cells-like 3, pseudogene

TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

LOC100130574 Gene

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

EIF5AL1 Gene

eukaryotic translation initiation factor 5A-like 1

GOLGA6L19 Gene

golgin A6 family-like 19

LOC100421782 Gene

heterogeneous nuclear ribonucleoprotein A1-like 2 pseudogene

SKINTL Gene

Skint-like, pseudogene

BCORL1 Gene

BCL6 corepressor-like 1

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GS1-259H13.2 Gene

transmembrane protein 225-like

PTHLH Gene

parathyroid hormone-like hormone

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]

DUX4L1 Gene

double homeobox 4 like 1

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

LOC102725015 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC105373384 Gene

MORF4 family-associated protein 1-like

LOC105373381 Gene

extracellular matrix protein 2-like

RASL11B Gene

RAS-like, family 11, member B

RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]

RASL11A Gene

RAS-like, family 11, member A

RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]

DUX4L17 Gene

double homeobox 4 like 17

DUX4L16 Gene

double homeobox 4 like 16

DUX4L15 Gene

double homeobox 4 like 15

DUX4L14 Gene

double homeobox 4 like 14

DUX4L13 Gene

double homeobox 4 like 13

DUX4L12 Gene

double homeobox 4 like 12

DUX4L11 Gene

double homeobox 4 like 11

DUX4L10 Gene

double homeobox 4 like 10

DUX4L19 Gene

double homeobox 4 like 19

DUX4L18 Gene

double homeobox 4 like 18

LOC102724844 Gene

immunoglobulin superfamily member 3-like

ZGLP1 Gene

zinc finger, GATA-like protein 1

GLB1L2 Gene

galactosidase, beta 1-like 2

GLB1L3 Gene

galactosidase, beta 1-like 3

ARL9 Gene

ADP-ribosylation factor-like 9

ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]

ARL1 Gene

ADP-ribosylation factor-like 1

The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

ARL3 Gene

ADP-ribosylation factor-like 3

ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]

ARL2 Gene

ADP-ribosylation factor-like 2

This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]

ARL6 Gene

ADP-ribosylation factor-like 6

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]

LOC105376432 Gene

protein artemis-like

MLXIPL Gene

MLX interacting protein-like

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008]

TXNL1 Gene

thioredoxin-like 1

LOC100509620 Gene

putative aquaporin-7-like protein 3

TAPBPL Gene

TAP binding protein-like

Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]

LOC102725078 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC102725070 Gene

coiled-coil domain-containing protein 29-like

LOC101927751 Gene

E3 ubiquitin-protein ligase RING1-like

NMLFS Gene

Nablus mask-like facial syndrome

LOC100507561 Gene

ankyrin repeat domain-containing protein 33B-like

LOC100420252 Gene

transmembrane channel-like 6 pseudogene

LOC105379472 Gene

serine/arginine repetitive matrix protein 3-like

LOC100431175 Gene

apolipoprotein O-like pseudogene

LOC105379785 Gene

extensin-like

LOC105379786 Gene

putative exonuclease GOR-like protein

ARL13B Gene

ADP-ribosylation factor-like 13B

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

ARL13A Gene

ADP-ribosylation factor-like 13A

UBALD1 Gene

UBA-like domain containing 1

UBALD2 Gene

UBA-like domain containing 2

FAM220BP Gene

Putative SIPAR-like protein C9orf51

PLCL2 Gene

phospholipase C-like 2

PLCL1 Gene

phospholipase C-like 1

REXO1L6P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene

LOC102723456 Gene

classical arabinogalactan protein 4-like

LOC100131939 Gene

PARK2 co-regulated-like pseudogene

ILVBL Gene

ilvB (bacterial acetolactate synthase)-like

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

LOC101928344 Gene

protein GVQW1-like

OACYLP Gene

O-acyltransferase like, pseudogene

This gene is ancient and exists in archaea, bacteria, fungi, worms, flies, and mammals. The gene has been inactivated by mutation and is nonfunctional in humans and chimpanzees. [provided by RefSeq, Oct 2008]

LOC645626 Gene

coiled-coil domain containing 29-like

APOBEC2 Gene

apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2

UHRF1BP1L Gene

UHRF1 binding protein 1-like

NEIL1 Gene

nei endonuclease VIII-like 1 (E. coli)

This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

NEIL3 Gene

nei endonuclease VIII-like 3 (E. coli)

NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]

NEIL2 Gene

nei endonuclease VIII-like 2 (E. coli)

NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM, Mar 2008]

CLYBL Gene

citrate lyase beta like

ELF2P2 Gene

E74-like factor 2 pseudogene 2

RAD54L Gene

RAD54-like (S. cerevisiae)

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

LOC100287294 Gene

equilibrative nucleoside transporter 4-like

MAML2 Gene

mastermind-like 2 (Drosophila)

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

MAML3 Gene

mastermind-like 3 (Drosophila)

MAML1 Gene

mastermind-like 1 (Drosophila)

This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]

PEX5L Gene

peroxisomal biogenesis factor 5-like

LOC102725207 Gene

annexin A8-like

LOC102724235 Gene

protein FAM231D-like

LOC642515 Gene

proline-rich transmembrane protein 1-like

LOC101232810 Gene

stathmin-like 3 pseudogene

DMRTA2 Gene

DMRT-like family A2

DMRTA1 Gene

DMRT-like family A1

EBPL Gene

emopamil binding protein-like

TOM1L2 Gene

target of myb1-like 2 (chicken)

ANTXRL Gene

anthrax toxin receptor-like

LOC105376502 Gene

microtubule cross-linking factor 1-like

LOC101060637 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

LOC641381 Gene

ADP-ribosylation factor-like 5A pseudogene

LOC105378579 Gene

serine/arginine repetitive matrix protein 1-like

LOC102724178 Gene

filamin-B-like

METTL11B Gene

methyltransferase like 11B

PABPN1L Gene

poly(A) binding protein, nuclear 1-like (cytoplasmic)

ILDR2 Gene

immunoglobulin-like domain containing receptor 2

ILDR1 Gene

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

LOC100130049 Gene

ribosomal L1 domain-containing protein 1-like

ASTL Gene

astacin-like metallo-endopeptidase (M12 family)

RHBDL3 Gene

rhomboid, veinlet-like 3 (Drosophila)

RHBDL1 Gene

rhomboid, veinlet-like 1 (Drosophila)

This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

LOC105376747 Gene

collagen alpha-3(IX) chain-like

LOC105376746 Gene

formin-like protein 5

LOC100421094 Gene

ubiquitin specific peptidase 17-like family member 2 pseudogene

OSBPL9P4 Gene

oxysterol binding protein-like 9 pseudogene 4

OSBPL9P6 Gene

oxysterol binding protein-like 9 pseudogene 6

OSBPL9P1 Gene

oxysterol binding protein-like 9 pseudogene 1

MAD2L2 Gene

MAD2 mitotic arrest deficient-like 2 (yeast)

The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]

MAD2L1 Gene

MAD2 mitotic arrest deficient-like 1 (yeast)

MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

LOC101927966 Gene

40S ribosomal protein S24-like

LOC101930013 Gene

polycystin-1-like

CDRT15L2 Gene

CMT1A duplicated region transcript 15-like 2

MOXD2P Gene

monooxygenase, DBH-like 2, pseudogene

DNASE1L1 Gene

deoxyribonuclease I-like 1

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]

LOC101060191 Gene

E3 ubiquitin-protein ligase RING2-like

MTL3P Gene

metallothionein-like 3, pseudogene

GTF2A1L Gene

general transcription factor IIA, 1-like

The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]

OBSL1 Gene

obscurin-like 1

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

LOC646700 Gene

UPF0607 protein ENSP00000381418-like pseudogene

LOC102723728 Gene

nodal modulator 3-like

WAPAL Gene

wings apart-like homolog (Drosophila)

LOC100128795 Gene

coiled-coil domain-containing protein 144A-like

LOC100128865 Gene

methyltransferase like 5 pseudogene

LOC101929990 Gene

collagen alpha-1(XXVII) chain-like

LOC101929991 Gene

zinc finger protein 93-like

LOC129026 Gene

gamma-glutamyltransferase-like activity 1 pseudogene

This pseudogene is similar to the human gene encoding gamma-glutamyltransferase-like activity 1, an enzyme which hydrolyzes the gamma-glutamyl moiety of glutathione and converts leukotriene C4 to leukotriene D4. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

LOC105378101 Gene

basic proline-rich protein-like

ALG1L7P Gene

asparagine-linked glycosylation 1-like 7, pseudogene

LOC100294160 Gene

protein FAM136A-like

LOC100505841 Gene

zinc finger protein 474-like

MAD2L1P1 Gene

MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1

CCRL1P1 Gene

chemokine (C-C motif) receptor-like 1 pseudogene

LOC100131625 Gene

ADP-ribosylation factor-like 8B pseudogene

LOC100996716 Gene

vesicle-trafficking protein SEC22b-like

RAB40AL Gene

RAB40A, member RAS oncogene family-like

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]

ALS2CL Gene

ALS2 C-terminal like

LOC102723753 Gene

putative HERC2-like protein 3

LOC100289194 Gene

fibrous sheath CABYR-binding protein-like

LOC100129224 Gene

ankyrin repeat domain-containing protein SOWAHC-like

MAPK1IP1L Gene

mitogen-activated protein kinase 1 interacting protein 1-like

SIGLEC22P Gene

sialic acid binding Ig-like lectin 22, pseudogene

LOC105377621 Gene

collagen alpha-2(I) chain-like

CPVL Gene

carboxypeptidase, vitellogenic-like

The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008]

IMMP2L Gene

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]

LOC105379509 Gene

fibril-forming collagen alpha chain-like

TNFAIP8L2 Gene

tumor necrosis factor, alpha-induced protein 8-like 2

TNFAIP8L1 Gene

tumor necrosis factor, alpha-induced protein 8-like 1

ARL2BPP5 Gene

ADP-ribosylation factor-like 2 binding protein pseudogene 5

KLF7P1 Gene

kruppel-like factor 7 pseudogene 1

ARL2BPP2 Gene

ADP-ribosylation factor-like 2 binding protein pseudogene 2

LOC102724655 Gene

putative aquaporin-7-like protein 3

PMCHL2 Gene

pro-melanin-concentrating hormone-like 2, pseudogene

PMCHL1 Gene

pro-melanin-concentrating hormone-like 1, pseudogene

ALPPL2 Gene

alkaline phosphatase, placental-like 2

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]

SH3GLB1 Gene

SH3-domain GRB2-like endophilin B1

This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

SH3GLB2 Gene

SH3-domain GRB2-like endophilin B2

LOC102725236 Gene

histone-lysine N-methyltransferase 2C-like

LOC102723689 Gene

actin-related protein 3B-like

LOC102723688 Gene

trithorax group protein osa-like

CHI3L2 Gene

chitinase 3-like 2

The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

LOC105373619 Gene

collagen alpha-1(XI) chain-like

HELQ Gene

helicase, POLQ-like

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

CHI3L1 Gene

chitinase 3-like 1 (cartilage glycoprotein-39)

Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]

LOC102723971 Gene

beta-lactoglobulin-like

LOC100133326 Gene

serine/threonine-protein phosphatase 4 regulatory subunit 2-like

SEC14L3 Gene

SEC14-like 3 (S. cerevisiae)

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

SEC14L2 Gene

SEC14-like 2 (S. cerevisiae)

This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

SEC14L1 Gene

SEC14-like 1 (S. cerevisiae)

The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]

SEC14L6 Gene

SEC14-like 6 (S. cerevisiae)

SEC14L5 Gene

SEC14-like 5 (S. cerevisiae)

SEC14L4 Gene

SEC14-like 4 (S. cerevisiae)

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

SNED1 Gene

sushi, nidogen and EGF-like domains 1

MROH3P Gene

maestro heat-like repeat family member 3, pseudogene

LOC101929308 Gene

protein FAM173B-like

MROH9 Gene

maestro heat-like repeat family member 9

MROH8 Gene

maestro heat-like repeat family member 8

The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

MROH7 Gene

maestro heat-like repeat family member 7

LOC105369231 Gene

PRAME family member 22-like

LOC105369236 Gene

structure-specific endonuclease subunit SLX1-like

KANSL1L Gene

KAT8 regulatory NSL complex subunit 1-like

CR1L Gene

complement component (3b/4b) receptor 1-like

CUZD1 Gene

CUB and zona pellucida-like domains 1

THNSL2 Gene

threonine synthase-like 2 (S. cerevisiae)

This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

THNSL1 Gene

threonine synthase-like 1 (S. cerevisiae)

CREB3L2 Gene

cAMP responsive element binding protein 3-like 2

This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

LOC105379200 Gene

skin secretory protein xP2-like

PPIAL4A Gene

peptidylprolyl isomerase A (cyclophilin A)-like 4A

LOC100129055 Gene

cyclin Y-like 1 pseudogene

ATRNL1 Gene

attractin-like 1

IGLL4P Gene

immunoglobulin lambda-like polypeptide 4, pseudogene

LOC102724923 Gene

protein FRG1B-like

LOC102724922 Gene

putative aquaporin-7-like protein 3

PPIAL4E Gene

peptidylprolyl isomerase A (cyclophilin A)-like 4E

LOC102724928 Gene

putative cyclin-Y-like protein 3

LOC100996731 Gene

otopetrin-1-like

LOC100996736 Gene

otopetrin-1-like

SALL4P3 Gene

spalt-like transcription factor 4 pseudogene 3

SALL4P1 Gene

spalt-like transcription factor 4 pseudogene 1

SALL4P7 Gene

spalt-like transcription factor 4 pseudogene 7

GARNL3 Gene

GTPase activating Rap/RanGAP domain-like 3

SALL4P5 Gene

spalt-like transcription factor 4 pseudogene 5

LOC101928145 Gene

PNMA-like protein 2

LOC100294341 Gene

ADP-ribosylation factor-like protein 17

EVPLL Gene

envoplakin-like

LOC102723316 Gene

protein FRG1-like

THEGL Gene

theg spermatid protein-like

OSCAR Gene

osteoclast associated, immunoglobulin-like receptor

Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

ADSSL1 Gene

adenylosuccinate synthase like 1

ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008]

LOC105373509 Gene

BBSome-interacting protein 1-like

MUCL1 Gene

mucin-like 1

LOC390251 Gene

SH3-domain GRB2-like 1 pseudogene

CDYL Gene

chromodomain protein, Y-like

Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

TCP10L Gene

t-complex 10-like

LOC100289097 Gene

protein FRG1-like

LOC102723727 Gene

mitogen-activated protein kinase 7-like

LOC100421010 Gene

UPF0607 protein ENSP00000381418-like pseudogene

WI2-2373I1.2 Gene

forkhead box L1-like

WHSC1L1 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

GOLGA6L5P Gene

golgin A6 family-like 5, pseudogene

NIF3L1 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)

MSANTD2P1 Gene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

TLR10 Gene

toll-like receptor 10

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

SEL1L Gene

sel-1 suppressor of lin-12-like (C. elegans)

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC100506578 Gene

uncharacterized protein C12orf71-like

RANBP3L Gene

RAN binding protein 3-like

LOC105372267 Gene

nuclear factor interleukin-3-regulated protein-like

LOC105372269 Gene

HERV-K_22q11.23 provirus ancestral Gag polyprotein-like

LOC102725104 Gene

coiled-coil domain-containing protein 29-like

LOC102725101 Gene

Ig heavy chain V-III region VH26-like

LOC100420499 Gene

BAI1-associated protein 2-like 1 pseudogene

LOC100420494 Gene

ADP-ribosylation factor-like 16 pseudogene

LOC100131689 Gene

pumilio domain-containing protein KIAA0020-like

LOC105371242 Gene

peptidyl-prolyl cis-trans isomerase A-like 4G

LOC105376335 Gene

basic proline-rich protein-like

LOC105376333 Gene

formin-like protein 6

MAB21L1 Gene

mab-21-like 1 (C. elegans)

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

MAB21L2 Gene

mab-21-like 2 (C. elegans)

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

MAB21L3 Gene

mab-21-like 3 (C. elegans)

LOC101059944 Gene

collagen alpha-1(III) chain-like

LOC101929583 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

LOC100132330 Gene

mal, T-cell differentiation protein-like pseudogene

IL1RL1 Gene

interleukin 1 receptor-like 1

The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

IL1RL2 Gene

interleukin 1 receptor-like 2

The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]

LOC101930090 Gene

contactin-associated protein-like 3B

SGOL1P1 Gene

shugoshin-like 1 (S. pombe) pseudogene 1

MAMLD1 Gene

mastermind-like domain containing 1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

LOC100129949 Gene

protein RCC2-like

LOC105371788 Gene

leucine-rich repeat-containing protein 37B-like

CTTNBP2NL Gene

CTTNBP2 N-terminal like

RPP25L Gene

ribonuclease P/MRP 25kDa subunit-like

This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

OXA1L Gene

oxidase (cytochrome c) assembly 1-like

LPAL1 Gene

lipoprotein, Lp(a)-like 1

LPAL2 Gene

lipoprotein, Lp(a)-like 2, pseudogene

Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

LOC105373316 Gene

collagen alpha-4(IV) chain-like

ARPC5L Gene

actin related protein 2/3 complex, subunit 5-like

RPL7L1P8 Gene

ribosomal protein L7-like 1 pseudogene 8

RPL7L1P9 Gene

ribosomal protein L7-like 1 pseudogene 9

RPL7L1P1 Gene

ribosomal protein L7-like 1 pseudogene 1

RPL7L1P2 Gene

ribosomal protein L7-like 1 pseudogene 2

RPL7L1P3 Gene

ribosomal protein L7-like 1 pseudogene 3

RPL7L1P5 Gene

ribosomal protein L7-like 1 pseudogene 5

RPL7L1P6 Gene

ribosomal protein L7-like 1 pseudogene 6

RPL7L1P7 Gene

ribosomal protein L7-like 1 pseudogene 7

TAF7L Gene

TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa

This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

HRASLS Gene

HRAS-like suppressor

BCL2L1 Gene

BCL2-like 1

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008]

BCL2L2 Gene

BCL2-like 2

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]

AFAP1L1 Gene

actin filament associated protein 1-like 1

AFAP1L2 Gene

actin filament associated protein 1-like 2

LOC100128906 Gene

WDR45-like pseudogene

LOC101060524 Gene

D(1B) dopamine receptor-like

GON4L Gene

gon-4-like (C. elegans)

BAIAP2L2 Gene

BAI1-associated protein 2-like 2

The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

BAIAP2L1 Gene

BAI1-associated protein 2-like 1

This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]

EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene

CD5L Gene

CD5 molecule-like

CD99L2 Gene

CD99 molecule-like 2

This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

LOC100379236 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

EPS15L1 Gene

epidermal growth factor receptor pathway substrate 15-like 1

LOC105379645 Gene

killer cell immunoglobulin-like receptor 2DL2

ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1

LOC389895 Gene

chromosome 16 open reading frame 72-like

NIPAL1 Gene

NIPA-like domain containing 1

NIPAL2 Gene

NIPA-like domain containing 2

NIPAL3 Gene

NIPA-like domain containing 3

NIPAL4 Gene

NIPA-like domain containing 4

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

PRYP2 Gene

PTPN13-like, Y-linked pseudogene 2

PRYP3 Gene

PTPN13-like, Y-linked pseudogene 3

PRYP1 Gene

PTPN13-like, Y-linked pseudogene 1

PRYP4 Gene

PTPN13-like, Y-linked pseudogene 4

ARL2BP Gene

ADP-ribosylation factor-like 2 binding protein

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]

SH3BGRL Gene

SH3 domain binding glutamate-rich protein like

POM121L9P Gene

POM121 transmembrane nucleoporin-like 9, pseudogene

This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008]

LOC100130466 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

SDF2L1 Gene

stromal cell-derived factor 2-like 1

PNPLA4P1 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

LOC101060052 Gene

zinc transporter ZIP1-like

LOC101060051 Gene

vegetative cell wall protein gp1-like

LOC101060056 Gene

mpv17-like protein 2

USP17L21 Gene

ubiquitin specific peptidase 17-like family member 21

TMED10P1 Gene

transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1

TMED10P2 Gene

transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2

F2RL3 Gene

coagulation factor II (thrombin) receptor-like 3

Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin. [provided by RefSeq, Jul 2008]

F2RL2 Gene

coagulation factor II (thrombin) receptor-like 2

This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]

F2RL1 Gene

coagulation factor II (thrombin) receptor-like 1

Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence. [provided by RefSeq, Jul 2008]

ERO1LB Gene

ERO1-like beta (S. cerevisiae)

LOC105379194 Gene

basic salivary proline-rich protein 4-like

LOC105379197 Gene

pleckstrin homology domain-containing family A member 7-like

LOC105370367 Gene

collagen alpha-2(VIII) chain-like

LOC105370368 Gene

collagen alpha-2(I) chain-like

DUX4L31 Gene

double homeobox 4 like 31, pseudogene

LOC102723390 Gene

protein FRG1-like

LOC100996364 Gene

40S ribosomal protein SA-like

LARGE Gene

like-glycosyltransferase

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

LAIR1 Gene

leukocyte-associated immunoglobulin-like receptor 1

The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LAIR2 Gene

leukocyte-associated immunoglobulin-like receptor 2

The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

LOC102724750 Gene

uncharacterized protein C2orf27-like

LOC102724751 Gene

putative BCR-like protein 2

LOC102724151 Gene

putative POM121-like protein 1

PDCL2P1 Gene

phosducin-like 2 pseudogene 1

LOC101930027 Gene

FERM and PDZ domain-containing protein 2-like

LOC645544 Gene

cuticle collagen 7-like

LOC100507393 Gene

putative uncharacterized protein FLJ44672-like

LOC101929862 Gene

RNA polymerase II transcription factor SIII subunit A3-like

URI1 Gene

URI1, prefoldin-like chaperone

This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]

OLFML1 Gene

olfactomedin-like 1

LUC7L Gene

LUC7-like (S. cerevisiae)

The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]

KLHL42 Gene

kelch-like family member 42

KLHL40 Gene

kelch-like family member 40

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

OLFML3 Gene

olfactomedin-like 3

GML Gene

glycosylphosphatidylinositol anchored molecule like

LOC101929479 Gene

golgin subfamily A member 2-like protein 3

LOC105378167 Gene

vegetative cell wall protein gp1-like

NMRAL1 Gene

NmrA-like family domain containing 1

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

LHFPL4 Gene

lipoma HMGIC fusion partner-like 4

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008]

LHFPL5 Gene

lipoma HMGIC fusion partner-like 5

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

LHFPL1 Gene

lipoma HMGIC fusion partner-like 1

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LHFPL2 Gene

lipoma HMGIC fusion partner-like 2

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TLL1 Gene

tolloid-like 1

This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

TLL2 Gene

tolloid-like 2

This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]

KLRG1 Gene

killer cell lectin-like receptor subfamily G, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]

LOC100130345 Gene

cadherin-related family member 3-like

KLHL41 Gene

kelch-like family member 41

This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]

KLF7 Gene

Kruppel-like factor 7 (ubiquitous)

The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

KLF6 Gene

Kruppel-like factor 6

This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]

KLF5 Gene

Kruppel-like factor 5 (intestinal)

This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

KLF4 Gene

Kruppel-like factor 4 (gut)

KLF3 Gene

Kruppel-like factor 3 (basic)

KLF2 Gene

Kruppel-like factor 2

Kruppel-like factors (KLFs) are a family of broadly expressed zinc finger transcription factors. KLF2 regulates T-cell trafficking by promoting expression of the lipid-binding receptor S1P1 (S1PR1; MIM 601974) and the selectin CD62L (SELL; MIM 153240) (summary by Weinreich et al., 2009 [PubMed 19592277]).[supplied by OMIM, Feb 2011]

KLF1 Gene

Kruppel-like factor 1 (erythroid)

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

KLF9 Gene

Kruppel-like factor 9

The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]

KLF8 Gene

Kruppel-like factor 8

This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

LOC105370942 Gene

gametogenetin-like

FAM91A2P Gene

protein FAM91A1-like

LOC105375661 Gene

collagen alpha-1(I) chain-like

IQCA1L Gene

IQ motif containing with AAA domain 1 like

LOC105379546 Gene

Ig heavy chain V-III region VH26-like

LOC105379541 Gene

Ig heavy chain V-III region VH26-like

HDGFL1 Gene

hepatoma derived growth factor-like 1

LOC101929983 Gene

PRAME family member 9/15-like

SKIV2L2 Gene

superkiller viralicidic activity 2-like 2 (S. cerevisiae)

AMOTL1 Gene

angiomotin like 1

The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

AMOTL2 Gene

angiomotin like 2

Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

SCML2 Gene

sex comb on midleg-like 2 (Drosophila)

This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]

SCML1 Gene

sex comb on midleg-like 1 (Drosophila)

SCML4 Gene

sex comb on midleg-like 4 (Drosophila)

LOC646112 Gene

origin recognition complex, subunit 3-like (yeast) pseudogene

LOC101928108 Gene

lymphocyte antigen 6A-2/6E-1-like

LDHAL6EP Gene

lactate dehydrogenase A-like 6E, pseudogene

KIAA0319L Gene

KIAA0319-like

This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]

LOC101929273 Gene

otogelin-like

ATP5J2LP Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene

LOC390358 Gene

ret finger protein-like 2 pseudogene

PCNXL4 Gene

pecanex-like 4 (Drosophila)

PCNXL3 Gene

pecanex-like 3 (Drosophila)

PCNXL2 Gene

pecanex-like 2 (Drosophila)

LOC101059997 Gene

alpha/beta hydrolase domain-containing protein 17A-like

LOC649783 Gene

HLA class II histocompatibility antigen-like

SALL4 Gene

spalt-like transcription factor 4

The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008]

SALL1 Gene

spalt-like transcription factor 1

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SALL3 Gene

spalt-like transcription factor 3

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

SALL2 Gene

spalt-like transcription factor 2

LOC391741 Gene

actin, beta-like 2 pseudogene

ADAMDEC1 Gene

ADAM-like, decysin 1

This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]

LOC100289037 Gene

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

DCLK1 Gene

doublecortin-like kinase 1

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]

DCLK3 Gene

doublecortin-like kinase 3

DCLK2 Gene

doublecortin-like kinase 2

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]

LOC105377368 Gene

histone-lysine N-methyltransferase SETMAR-like

HSPA1L Gene

heat shock 70kDa protein 1-like

This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]

CLTCL1 Gene

clathrin, heavy chain-like 1

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

KLF2P4 Gene

Kruppel-like factor 2 pseudogene 4

LOC100129291 Gene

uncharacterized protein CXorf49-like

CPSF4L Gene

cleavage and polyadenylation specific factor 4-like

LOC102724093 Gene

putative golgin subfamily A member 6-like protein 4

STAMBPL1 Gene

STAM binding protein-like 1

STK38L Gene

serine/threonine kinase 38 like

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

MTRNR2L11 Gene

MT-RNR2-like 11 (pseudogene)

LOC729722 Gene

ankyrin repeat domain-containing protein ENSP00000383090-like

LOC102725024 Gene

mucin-6-like

LOC729159 Gene

UPF0607 protein ENSP00000381418-like

LOC644249 Gene

coiled-coil domain-containing protein 29-like

DHFRL1 Gene

dihydrofolate reductase-like 1

ESYT1 Gene

extended synaptotagmin-like protein 1

ESYT2 Gene

extended synaptotagmin-like protein 2

ESYT3 Gene

extended synaptotagmin-like protein 3

REXO1L5P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5, pseudogene

HAGHL Gene

hydroxyacylglutathione hydrolase-like

PABPC4L Gene

poly(A) binding protein, cytoplasmic 4-like

LOC100996693 Gene

CAVP-target protein-like

LOC100996699 Gene

proline-rich protein 2-like

LOC105369728 Gene

serine/arginine repetitive matrix protein 1-like

HHATL Gene

hedgehog acyltransferase-like

KLRG2 Gene

killer cell lectin-like receptor subfamily G, member 2

RETNLB Gene

resistin like beta

LOC101928318 Gene

nucleolar protein 58-like

UHRF1 Gene

ubiquitin-like with PHD and ring finger domains 1

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]

UHRF2 Gene

ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]

LOC102725115 Gene

proline-rich protein 23D1-like

HEG1 Gene

heart development protein with EGF-like domains 1

DLL1 Gene

delta-like 1 (Drosophila)

DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]

DLL3 Gene

delta-like 3 (Drosophila)

This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

KLRB1 Gene

killer cell lectin-like receptor subfamily B, member 1

Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]

POM121L1P Gene

POM121 transmembrane nucleoporin-like 1, pseudogene

This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

NAALADL2 Gene

N-acetylated alpha-linked acidic dipeptidase-like 2

NAALADL1 Gene

N-acetylated alpha-linked acidic dipeptidase-like 1

LOC101927996 Gene

spidroin-2-like

POM121L11P Gene

POM121 transmembrane nucleoporin-like 11, pseudogene

MPV17L Gene

MPV17 mitochondrial membrane protein-like

POM121L12 Gene

POM121 transmembrane nucleoporin-like 12

LZTR1 Gene

leucine-zipper-like transcription regulator 1

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]

LOC100131223 Gene

ADP-ribosylation factor-like 8B pseudogene

BTNL9 Gene

butyrophilin-like 9

BTNL8 Gene

butyrophilin-like 8

BTNL3 Gene

butyrophilin-like 3

BTNL2 Gene

butyrophilin-like 2

LOC100421306 Gene

RecQ helicase-like pseudogene

GNB2L1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

ARL4A Gene

ADP-ribosylation factor-like 4A

ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100129707 Gene

presenilin associated, rhomboid-like pseudogene

LOC105378242 Gene

zinc finger protein 705A-like

LOC105378245 Gene

heterogeneous nuclear ribonucleoprotein A1-like

KLHL6 Gene

kelch-like family member 6

KLHL7 Gene

kelch-like family member 7

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

KLHL4 Gene

kelch-like family member 4

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KLHL5 Gene

kelch-like family member 5

KLHL2 Gene

kelch-like family member 2

KLHL3 Gene

kelch-like family member 3

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]

KLHL1 Gene

kelch-like family member 1

The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]

KLHL8 Gene

kelch-like family member 8

KLHL9 Gene

kelch-like family member 9

LOC102724200 Gene

trafficking protein particle complex subunit 10-like

LOC102724205 Gene

centromere protein J-like

LOC102724207 Gene

ankyrin repeat domain-containing protein 36C-like

LYG1 Gene

lysozyme G-like 1

LYG2 Gene

lysozyme G-like 2

The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]

LHFPL3 Gene

lipoma HMGIC fusion partner-like 3

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]

AFG3L1P Gene

AFG3-like AAA ATPase 1, pseudogene

LOC100653061 Gene

beta-glucuronidase-like protein SMA4

LOC102723408 Gene

tektin-4-like

LOC441711 Gene

RING finger protein 145-like

MPV17L2 Gene

MPV17 mitochondrial membrane protein-like 2

LOC100132025 Gene

transmembrane domain-containing protein ENSP00000320207-like

LOC102724992 Gene

metacaspase-1-like

LOC102724993 Gene

NPIP-like protein 1

ULK2 Gene

unc-51 like autophagy activating kinase 2

This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]

ULK3 Gene

unc-51 like kinase 3

ULK1 Gene

unc-51 like autophagy activating kinase 1

ULK4 Gene

unc-51 like kinase 4

ZFPL1 Gene

zinc finger protein-like 1

UBQLNL Gene

ubiquilin-like

SATL1 Gene

spermidine/spermine N1-acetyl transferase-like 1

LOC101060391 Gene

zinc finger CCCH domain-containing protein 18-like

UBL5 Gene

ubiquitin-like 5

This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

UBL7 Gene

ubiquitin-like 7

UBL3 Gene

ubiquitin-like 3

LOC645324 Gene

GrpE-like 1, mitochondrial (E. coli) pseudogene

LOC105379652 Gene

DLA class II histocompatibility antigen, DR-1 beta chain-like

LOC105379650 Gene

killer cell immunoglobulin-like receptor 2DS1

ARNTL Gene

aryl hydrocarbon receptor nuclear translocator-like

The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

PCYOX1L Gene

prenylcysteine oxidase 1 like

LOC105375795 Gene

uncharacterized protein FLJ40521-like

LOC101927245 Gene

vegetative cell wall protein gp1-like

LOC101928433 Gene

arabinogalactan protein 1-like

RPGRIP1L Gene

RPGRIP1-like

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC101928296 Gene

ATP synthase-coupling factor 6, mitochondrial-like

LOC101928297 Gene

tubulin beta-8 chain-like

CIDECP Gene

cell death-inducing DFFA-like effector c pseudogene

EBLN1 Gene

endogenous Bornavirus-like nucleoprotein 1

EBLN2 Gene

endogenous Bornavirus-like nucleoprotein 2

CERKL Gene

ceramide kinase-like

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

DHRS4L1 Gene

dehydrogenase/reductase (SDR family) member 4 like 1

DHRS4L2 Gene

dehydrogenase/reductase (SDR family) member 4 like 2

This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

LOC646535 Gene

60S ribosomal protein L7a-like

LOC105370944 Gene

inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1-like

RAD54L2 Gene

RAD54-like 2 (S. cerevisiae)

USP17L28 Gene

ubiquitin specific peptidase 17-like family member 28

USP17L22 Gene

ubiquitin specific peptidase 17-like family member 22

USP17L23 Gene

ubiquitin specific peptidase 17-like family member 23

USP17L20 Gene

ubiquitin specific peptidase 17-like family member 20

KIAA1549L Gene

KIAA1549-like

MYCLK1 Gene

v-myc avian myelocytomatosis viral oncogene homolog-like 1

AMIGO1 Gene

adhesion molecule with Ig-like domain 1

AMIGO2 Gene

adhesion molecule with Ig-like domain 2

LOC105377792 Gene

protein app1-like

LOC643802 Gene

u3 small nucleolar ribonucleoprotein protein MPP10-like

STXBP5L Gene

syntaxin binding protein 5-like

UBAP1L Gene

ubiquitin associated protein 1-like

EPB41L4B Gene

erythrocyte membrane protein band 4.1 like 4B

EPB41L4A Gene

erythrocyte membrane protein band 4.1 like 4A

Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008]

LOC101060158 Gene

diamine acetyltransferase 1-like

EXTL1 Gene

exostosin-like glycosyltransferase 1

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]

EXTL2 Gene

exostosin-like glycosyltransferase 2

EXTL3 Gene

exostosin-like glycosyltransferase 3

This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]

RGSL1 Gene

regulator of G-protein signaling like 1

SLFNL1 Gene

schlafen-like 1

NXNL1 Gene

nucleoredoxin-like 1

NXNL2 Gene

nucleoredoxin-like 2

LCNL1 Gene

lipocalin-like 1

ACCSL Gene

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

SUPT20HL2 Gene

suppressor of Ty 20 homolog (S. cerevisiae)-like 2

SUPT20HL1 Gene

suppressor of Ty 20 homolog (S. cerevisiae)-like 1

DKKL1 Gene

dickkopf-like 1

The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

NOL4L Gene

nucleolar protein 4-like

LOC101060458 Gene

peptidyl-prolyl cis-trans isomerase A-like

LOC101929941 Gene

neural Wiskott-Aldrich syndrome protein-like

LOC101929943 Gene

tropomyosin alpha-3 chain-like

IGFL1 Gene

IGF-like family member 1

IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]

TTLL11 Gene

tubulin tyrosine ligase-like family member 11

TTLL10 Gene

tubulin tyrosine ligase-like family member 10

TTLL12 Gene

tubulin tyrosine ligase-like family member 12

ODF2L Gene

outer dense fiber of sperm tails 2-like

LOC101930552 Gene

zinc finger protein 717-like

LOC105371752 Gene

proline-rich protein 36-like

LOC100996763 Gene

notch homolog 2 N-terminal-like protein

PHLDA1 Gene

pleckstrin homology-like domain, family A, member 1

This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]

PHLDA3 Gene

pleckstrin homology-like domain, family A, member 3

PHLDA2 Gene

pleckstrin homology-like domain, family A, member 2

This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]

GOLPH3L Gene

golgi phosphoprotein 3-like

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]

AMMECR1L Gene

AMMECR1-like

RAD21L1 Gene

RAD21-like 1 (S. pombe)

LOC101929530 Gene

Fanconi anemia group D2 protein-like

LOC101929536 Gene

atherin-like

RBMXL1 Gene

RNA binding motif protein, X-linked-like 1

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]

RBMXL3 Gene

RNA binding motif protein, X-linked-like 3

RBMXL2 Gene

RNA binding motif protein, X-linked-like 2

This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

RHEBL1 Gene

Ras homolog enriched in brain like 1

LOC100129216 Gene

beta-defensin 131-like

LOC645262 Gene

phosphodiesterase 4D interacting protein-like

LOC101930132 Gene

pollen-specific leucine-rich repeat extensin-like protein 1

ANKRD30BL Gene

ankyrin repeat domain 30B-like

SYPL1 Gene

synaptophysin-like 1

RFPL1 Gene

ret finger protein-like 1

SYPL2 Gene

synaptophysin-like 2

LOC728307 Gene

melanoma associated antigen (mutated) 1-like 1 pseudogene

CKLF Gene

chemokine-like factor

The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]

LOC100287794 Gene

double homeobox protein 4-like protein 4

LOC101060294 Gene

PRAME family member 13-like

LOC105369253 Gene

rootletin-like

LOC105369252 Gene

hepatocyte growth factor-like protein

LOC101060327 Gene

protein FAM231B-like

SECISBP2L Gene

SECIS binding protein 2-like

CTCFL Gene

CCCTC-binding factor (zinc finger protein)-like

CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

CDC5L Gene

cell division cycle 5-like

The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]

FIGNL2 Gene

fidgetin-like 2

LOC105376114 Gene

histone-lysine N-methyltransferase SETMAR-like

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

CDR2L Gene

cerebellar degeneration-related protein 2-like

LOC100422604 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 pseudogene

MSLNL Gene

mesothelin-like

LOC105378775 Gene

cell death regulator Aven-like

SEH1L Gene

SEH1-like (S. cerevisiae)

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SS18L2P2 Gene

synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2

VILL Gene

villin-like

The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]

PPIAL4C Gene

peptidylprolyl isomerase A (cyclophilin A)-like 4C

TXNL1P1 Gene

thioredoxin-like 1 pseudogene 1

CALCRL Gene

calcitonin receptor-like

OLR1 Gene

oxidized low density lipoprotein (lectin-like) receptor 1

This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

LOC440489 Gene

ubiquitin fusion degradation 1 like (yeast) pseudogene

OGFRL1 Gene

opioid growth factor receptor-like 1

LOC100420896 Gene

UPF0607 protein ENSP00000381418-like pseudogene

LOC101930332 Gene

autism susceptibility gene 2 protein-like

DBIL5P Gene

diazepam binding inhibitor-like 5, pseudogene

LOC100419161 Gene

nei endonuclease VIII-like 2 (E. coli) pseudogene

SLA2 Gene

Src-like-adaptor 2

This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FRRS1L Gene

ferric-chelate reductase 1-like

DAZL Gene

deleted in azoospermia-like

The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

WHSC1L2P Gene

Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

CUX1 Gene

cut-like homeobox 1

The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]

CUX2 Gene

cut-like homeobox 2

This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]

GLYATL2 Gene

glycine-N-acyltransferase-like 2

GLYATL3 Gene

glycine-N-acyltransferase-like 3

GLYATL1 Gene

glycine-N-acyltransferase-like 1

RINL Gene

Ras and Rab interactor-like

ACOXL Gene

acyl-CoA oxidase-like

LOC646804 Gene

alkylated DNA repair protein alkB homolog 8-like