Name

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

protein domains predicted for gene products based on sequence similarity to known domain signatures

TANC1 Gene

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

TANC2 Gene

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

TRANK1 Gene

tetratricopeptide repeat and ankyrin repeat containing 1

ANK3 Gene

ankyrin 3, node of Ranvier (ankyrin G)

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

ANKFY1 Gene

ankyrin repeat and FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

ANKS1B Gene

ankyrin repeat and sterile alpha motif domain containing 1B

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1A Gene

ankyrin repeat and sterile alpha motif domain containing 1A

LOC100996316 Gene

ankyrin repeat domain-containing protein 20A2-like

ANKDD1A Gene

ankyrin repeat and death domain containing 1A

ANKDD1B Gene

ankyrin repeat and death domain containing 1B

LOC100132154 Gene

putative ankyrin repeat domain-containing protein 30B-like

KRIT1 Gene

KRIT1, ankyrin repeat containing

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

LOC100507606 Gene

ankyrin repeat domain-containing protein 33B-like

HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

LOC102725078 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC100507561 Gene

ankyrin repeat domain-containing protein 33B-like

ANKMY1 Gene

ankyrin repeat and MYND domain containing 1

ANKMY2 Gene

ankyrin repeat and MYND domain containing 2

LOC101060632 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

ANKS4B Gene

ankyrin repeat and sterile alpha motif domain containing 4B

LOC100129224 Gene

ankyrin repeat domain-containing protein SOWAHC-like

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

ABTB1 Gene

ankyrin repeat and BTB (POZ) domain containing 1

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

LOC729722 Gene

ankyrin repeat domain-containing protein ENSP00000383090-like

ASB9P1 Gene

ankyrin repeat and SOCS box containing 9 pseudogene 1

LOC102724207 Gene

ankyrin repeat domain-containing protein 36C-like

ANKAR Gene

ankyrin and armadillo repeat containing

ANKLE1 Gene

ankyrin repeat and LEM domain containing 1

ANKLE2 Gene

ankyrin repeat and LEM domain containing 2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

LOC101929816 Gene

ankyrin repeat domain-containing protein 30A-like

ANKUB1 Gene

ankyrin repeat and ubiquitin domain containing 1

LOC102725051 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC105379417 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC105369251 Gene

ankyrin repeat domain-containing protein 33B-like

LOC101059949 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

LOC391230 Gene

KN motif and ankyrin repeat domain-containing protein 1-like

LOC102723660 Gene

ankyrin repeat domain-containing protein SOWAHC-like

LOC100132004 Gene

putative ankyrin repeat domain-containing protein 30B-like

LOC105376334 Gene

ankyrin repeat domain-containing protein 36B pseudogene

LOC644339 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC105379425 Gene

ankyrin repeat domain-containing protein 20A2-like

ANKK1 Gene

ankyrin repeat and kinase domain containing 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

LOC101927345 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

LOC102723382 Gene

ankyrin repeat domain-containing protein 20B-like

ANKZF1 Gene

ankyrin repeat and zinc finger domain containing 1

ANKS3 Gene

ankyrin repeat and sterile alpha motif domain containing 3

ANKS6 Gene

ankyrin repeat and sterile alpha motif domain containing 6

LOC102723552 Gene

ankyrin repeat domain-containing protein 20A2

LOC101926917 Gene

ankyrin repeat domain-containing protein 18A-like

ASB10 Gene

ankyrin repeat and SOCS box containing 10

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

ASB12 Gene

ankyrin repeat and SOCS box containing 12

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]

ASB13 Gene

ankyrin repeat and SOCS box containing 13

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

ASB14 Gene

ankyrin repeat and SOCS box containing 14

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]

ASB16 Gene

ankyrin repeat and SOCS box containing 16

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]

ASB17 Gene

ankyrin repeat and SOCS box containing 17

ASB18 Gene

ankyrin repeat and SOCS box containing 18

ANKEF1 Gene

ankyrin repeat and EF-hand domain containing 1

LOC101927375 Gene

ankyrin repeat domain-containing protein 26-like

LOC100129384 Gene

ankyrin repeat domain-containing protein 33B-like

LOC105378283 Gene

putative ankyrin repeat domain-containing protein ENSP00000383069

ASB15 Gene

ankyrin repeat and SOCS box containing 15

This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

LOC100287028 Gene

ankyrin repeat domain-containing protein 33B-like

LOC729369 Gene

ankyrin repeat domain-containing protein 36B-like

ANKHD1 Gene

ankyrin repeat and KH domain containing 1

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]

ANKIB1 Gene

ankyrin repeat and IBR domain containing 1

LOC642574 Gene

IQ motif and ankyrin repeat domain-containing protein LOC642574

LOC102725001 Gene

putative ankyrin repeat domain-containing protein 20A5

LOC100292922 Gene

putative ankyrin repeat domain-containing protein ENSP00000330211

LOC101928041 Gene

ankyrin repeat domain-containing protein 20A2-like

ASZ1 Gene

ankyrin repeat, SAM and basic leucine zipper domain containing 1

LOC100132257 Gene

Putative ankyrin repeat domain-containing protein ENSP00000383069

LOC105379272 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

ASB2 Gene

ankyrin repeat and SOCS box containing 2

This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

ASB3 Gene

ankyrin repeat and SOCS box containing 3

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]

ASB1 Gene

ankyrin repeat and SOCS box containing 1

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]

ASB6 Gene

ankyrin repeat and SOCS box containing 6

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

ASB7 Gene

ankyrin repeat and SOCS box containing 7

The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ASB4 Gene

ankyrin repeat and SOCS box containing 4

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]

ASB5 Gene

ankyrin repeat and SOCS box containing 5

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]

ASB8 Gene

ankyrin repeat and SOCS box containing 8

ASB9 Gene

ankyrin repeat and SOCS box containing 9

This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

LOC100652976 Gene

ankyrin repeat domain-containing protein 33B-like

ASB11 Gene

ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

LOC102723891 Gene

ankyrin repeat domain-containing protein 20B-like

ANKRD19P Gene

ankyrin repeat domain 19, pseudogene

SHANK3 Gene

SH3 and multiple ankyrin repeat domains 3

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]

SHANK2 Gene

SH3 and multiple ankyrin repeat domains 2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1

ANKRD20A10P Gene

ankyrin repeat domain 20 family, member A10, pseudogene

ANKRD20A8P Gene

ankyrin repeat domain 20 family, member A8, pseudogene

LOC100420024 Gene

ankyrin repeat domain 33B pseudogene

LOC653071 Gene

ankyrin repeat domain 57 pseudogene

LOC644669 Gene

ankyrin repeat domain 30B pseudogene

AGAP1 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

AGAP2 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

AGAP3 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

AGAP4 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 4

AGAP5 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

AGAP6 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

AGAP9 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 9

ANKRD52 Gene

ankyrin repeat domain 52

ANKRD53 Gene

ankyrin repeat domain 53

ANKRD50 Gene

ankyrin repeat domain 50

ANKRD54 Gene

ankyrin repeat domain 54

ANKRD55 Gene

ankyrin repeat domain 55

LOC126860 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

FANK1 Gene

fibronectin type III and ankyrin repeat domains 1

ANKRD20A2 Gene

ankyrin repeat domain 20 family, member A2

ANKRD20A3 Gene

ankyrin repeat domain 20 family, member A3

ANKRD20A1 Gene

ankyrin repeat domain 20 family, member A1

ANKRD20A4 Gene

ankyrin repeat domain 20 family, member A4

LOC642204 Gene

ankyrin repeat domain 20 family, member A1 pseudogene

ANKRD33B Gene

ankyrin repeat domain 33B

LOC650226 Gene

ankyrin repeat domain 26 pseudogene

NRARP Gene

NOTCH-regulated ankyrin repeat protein

ANKRD63 Gene

ankyrin repeat domain 63

ANKRD61 Gene

ankyrin repeat domain 61

ANKRD60 Gene

ankyrin repeat domain 60

ANKRD66 Gene

ankyrin repeat domain 66

ANKRD65 Gene

ankyrin repeat domain 65

ANKRD20A18P Gene

ankyrin repeat domain 20 family, member A18, pseudogene

ANKRD6 Gene

ankyrin repeat domain 6

ANKRD30BL Gene

ankyrin repeat domain 30B-like

SOWAHA Gene

sosondowah ankyrin repeat domain family member A

SOWAHC Gene

sosondowah ankyrin repeat domain family member C

SOWAHD Gene

sosondowah ankyrin repeat domain family member D

ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ASAP2 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

ASAP3 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

ANKRD18EP Gene

ankyrin repeat domain 18E, pseudogene

LOC100287912 Gene

ankyrin repeat domain 11 pseudogene

AGAP7P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene

ANKRD20A17P Gene

ankyrin repeat domain 20 family, member A17, pseudogene

ANKRD20A6P Gene

ankyrin repeat domain 20 family, member A6, pseudogene

ANKRD20A15P Gene

ankyrin repeat domain 20 family, member A15, pseudogene

ANKRD62 Gene

ankyrin repeat domain 62

ANKRD13B Gene

ankyrin repeat domain 13B

ANKRD13C Gene

ankyrin repeat domain 13C

KANK4 Gene

KN motif and ankyrin repeat domains 4

KANK2 Gene

KN motif and ankyrin repeat domains 2

KANK3 Gene

KN motif and ankyrin repeat domains 3

KANK1 Gene

KN motif and ankyrin repeat domains 1

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

ANKRD35 Gene

ankyrin repeat domain 35

ANKRD36 Gene

ankyrin repeat domain 36

ANKRD37 Gene

ankyrin repeat domain 37

ANKRD31 Gene

ankyrin repeat domain 31

ANKRD32 Gene

ankyrin repeat domain 32

ANKRD33 Gene

ankyrin repeat domain 33

ANKRD39 Gene

ankyrin repeat domain 39

ANKRD36C Gene

ankyrin repeat domain 36C

LOC100420025 Gene

ankyrin repeat domain 33B pseudogene

LOC100420022 Gene

ankyrin repeat domain 33B pseudogene

LOC100420021 Gene

ankyrin repeat domain 33B pseudogene

ANKRD7 Gene

ankyrin repeat domain 7

ANKRD1 Gene

ankyrin repeat domain 1 (cardiac muscle)

The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

ANKRD2 Gene

ankyrin repeat domain 2 (stretch responsive muscle)

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

ANKRD9 Gene

ankyrin repeat domain 9

LOC100419814 Gene

ankyrin repeat domain 49 pseudogene

LOC100419815 Gene

ankyrin repeat domain 57 pseudogene

LOC100422376 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

ANKRD20A13P Gene

ankyrin repeat domain 20 family, member A13, pseudogene

LOC389834 Gene

ankyrin repeat domain 57 pseudogene

ANKRD20A16P Gene

ankyrin repeat domain 20 family, member A16, pseudogene

ACAP2 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

ANKRD30A Gene

ankyrin repeat domain 30A

ANKRD30B Gene

ankyrin repeat domain 30B

ANKRD20A9P Gene

ankyrin repeat domain 20 family, member A9, pseudogene

ANKRD36BP2 Gene

ankyrin repeat domain 36B pseudogene 2

ANKRD45 Gene

ankyrin repeat domain 45

ANKRD44 Gene

ankyrin repeat domain 44

ANKRD46 Gene

ankyrin repeat domain 46

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ANKRD40 Gene

ankyrin repeat domain 40

ANKRD42 Gene

ankyrin repeat domain 42

ANKRD49 Gene

ankyrin repeat domain 49

ANKRD18CP Gene

ankyrin repeat domain 18C, pseudogene

ANKRD11 Gene

ankyrin repeat domain 11

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

SOWAHB Gene

sosondowah ankyrin repeat domain family member B

AGAP11 Gene

ankyrin repeat and GTPase domain Arf GTPase activating protein 11

LOC100288656 Gene

ankyrin repeat domain 20 family, member A2 pseudogene

LOC391834 Gene

ankyrin repeat domain 49 pseudogene

ANKRD30BP1 Gene

ankyrin repeat domain 30B pseudogene 1

ANKRD30BP3 Gene

ankyrin repeat domain 30B pseudogene 3

ANKRD30BP2 Gene

ankyrin repeat domain 30B pseudogene 2

ANKRD16 Gene

ankyrin repeat domain 16

ANKRD17 Gene

ankyrin repeat domain 17

This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ANKRD12 Gene

ankyrin repeat domain 12

This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

ANKRD10 Gene

ankyrin repeat domain 10

ANKRD34A Gene

ankyrin repeat domain 34A

ANKRD34C Gene

ankyrin repeat domain 34C

ANKRD34B Gene

ankyrin repeat domain 34B

ANKRD18B Gene

ankyrin repeat domain 18B

ANKRD18A Gene

ankyrin repeat domain 18A

ANKRD20A7P Gene

ankyrin repeat domain 20 family, member A7, pseudogene

ANKRD20A14P Gene

ankyrin repeat domain 20 family, member A14, pseudogene

LOC100124373 Gene

ankyrin repeat domain 39 pseudogene

ANKRD27 Gene

ankyrin repeat domain 27 (VPS9 domain)

ANKRD26 Gene

ankyrin repeat domain 26

This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ANKRD24 Gene

ankyrin repeat domain 24

ANKRD23 Gene

ankyrin repeat domain 23

This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]

ANKRD22 Gene

ankyrin repeat domain 22

ANKRD29 Gene

ankyrin repeat domain 29

LOC100419906 Gene

ankyrin repeat domain 11 pseudogene

ARAP3 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008]

ARAP2 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

DZANK1 Gene

double zinc ribbon and ankyrin repeat domains 1

This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]

AGAP10P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene

ARAP1 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

LOC643348 Gene

ankyrin repeat domain 26 pseudogene

ANKRD57P1 Gene

ankyrin repeat domain 57 pseudogene 1

LOC100862705 Gene

KN motif and ankyrin repeat domains 1 pseudogene

ANKRD20A11P Gene

ankyrin repeat domain 20 family, member A11, pseudogene

ANKRD36P1 Gene

ankyrin repeat domain 36 pseudogene 1

ANKRD20A19P Gene

ankyrin repeat domain 20 family, member A19, pseudogene

ANKRD28 Gene

ankyrin repeat domain 28

LOC100419957 Gene

ankyrin repeat domain 57 pseudogene

ANKRD20A20P Gene

ankyrin repeat domain 20 family, member A20, pseudogene

ANKRD18DP Gene

ankyrin repeat domain 18D, pseudogene

ANKRD36BP1 Gene

ankyrin repeat domain 36B pseudogene 1

LOC100130680 Gene

ankyrin repeat domain 49 pseudogene

ANKRD13D Gene

ankyrin repeat domain 13 family, member D

ANKRD13A Gene

ankyrin repeat domain 13A

ANKRA2 Gene

ankyrin repeat, family A (RFXANK-like), 2

ANKRD20A5P Gene

ankyrin repeat domain 20 family, member A5, pseudogene

ANKRD54P1 Gene

ankyrin repeat domain 54 pseudogene 1

ANKRD20A12P Gene

ankyrin repeat domain 20 family, member A12, pseudogene

LOC100419920 Gene

ankyrin repeat domain 33B pseudogene

ANKRD26P4 Gene

ankyrin repeat domain 26 pseudogene 4

ANKRD26P3 Gene

ankyrin repeat domain 26 pseudogene 3

ANKRD26P2 Gene

ankyrin repeat domain 26 pseudogene 2

ANKRD26P1 Gene

ankyrin repeat domain 26 pseudogene 1

ANKRD36B Gene

ankyrin repeat domain 36B

ACAP1 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

ACAP3 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

RFXANK Gene

regulatory factor X-associated ankyrin-containing protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

POTEM Gene

POTE ankyrin domain family, member M

TNKS2 Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2

BANK1 Gene

B-cell scaffold protein with ankyrin repeats 1

The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

POTEJ Gene

POTE ankyrin domain family, member J

POTEI Gene

POTE ankyrin domain family, member I

POTEH Gene

POTE ankyrin domain family, member H

POTEG Gene

POTE ankyrin domain family, member G

POTEF Gene

POTE ankyrin domain family, member F

POTEE Gene

POTE ankyrin domain family, member E

POTED Gene

POTE ankyrin domain family, member D

POTEC Gene

POTE ankyrin domain family, member C

POTEB Gene

POTE ankyrin domain family, member B

POTEA Gene

POTE ankyrin domain family, member A

ANK1 Gene

ankyrin 1, erythrocytic

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

ANK2 Gene

ankyrin 2, neuronal

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

GPANK1 Gene

G patch domain and ankyrin repeats 1

This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]

POTEKP Gene

POTE ankyrin domain family, member K, pseudogene

LOC100130331 Gene

POTE ankyrin domain family, member F pseudogene

TNKS Gene

tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase

LOC105375817 Gene

POTE ankyrin domain family member A-like

UACA Gene

uveal autoantigen with coiled-coil domains and ankyrin repeats

POTEB3 Gene

POTE ankyrin domain family, member B3

LOC100288966 Gene

POTE ankyrin domain family member D-like

LOC102723502 Gene

POTE ankyrin domain family member B-like

POTEB2 Gene

POTE ankyrin domain family, member B2

LRRC37A10P Gene

leucine rich repeat containing 37, member A10, pseudogene

LRRC27 Gene

leucine rich repeat containing 27

LRRC26 Gene

leucine rich repeat containing 26

LRRC24 Gene

leucine rich repeat containing 24

LRRC23 Gene

leucine rich repeat containing 23

LRRC20 Gene

leucine rich repeat containing 20

LRRC29 Gene

leucine rich repeat containing 29

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

LRRC28 Gene

leucine rich repeat containing 28

UTY Gene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

ARMC10P1 Gene

armadillo repeat containing 10 pseudogene 1

LOC100131429 Gene

armadillo repeat containing 1 pseudogene

LOC100130639 Gene

leucine rich repeat containing 3C pseudogene

PQLC3 Gene

PQ loop repeat containing 3

LRRC25 Gene

leucine rich repeat containing 25

LRRC37A2 Gene

leucine rich repeat containing 37, member A2

LRRC37A3 Gene

leucine rich repeat containing 37, member A3

LOC100420547 Gene

GTF2I repeat domain containing 1 pseudogene

GTF2IRD1P1 Gene

GTF2I repeat domain containing 1 pseudogene 1

ACRC Gene

acidic repeat containing

LOC105371804 Gene

leucine-rich repeat-containing protein 37A3 pseudogene

TMTC2 Gene

transmembrane and tetratricopeptide repeat containing 2

XIRP1 Gene

xin actin binding repeat containing 1

XIRP2 Gene

xin actin binding repeat containing 2

LRRC9 Gene

leucine rich repeat containing 9

LRRC4 Gene

leucine rich repeat containing 4

This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]

LRRC6 Gene

leucine rich repeat containing 6

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012]

LRRC7 Gene

leucine rich repeat containing 7

LRRC1 Gene

leucine rich repeat containing 1

LRRC3 Gene

leucine rich repeat containing 3

MORN5 Gene

MORN repeat containing 5

MORN4 Gene

MORN repeat containing 4

MORN1 Gene

MORN repeat containing 1

KBTBD7 Gene

kelch repeat and BTB (POZ) domain containing 7

KBTBD4 Gene

kelch repeat and BTB (POZ) domain containing 4

KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

KBTBD2 Gene

kelch repeat and BTB (POZ) domain containing 2

KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

BTRCP1 Gene

beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1

LRRC18 Gene

leucine rich repeat containing 18

LRRC19 Gene

leucine rich repeat containing 19

LRRC17 Gene

leucine rich repeat containing 17

LRRC14 Gene

leucine rich repeat containing 14

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

LRRC15 Gene

leucine rich repeat containing 15

LRRC10 Gene

leucine rich repeat containing 10

LOC100422352 Gene

transmembrane and tetratricopeptide repeat containing 1 pseudogene

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

TECPR1 Gene

tectonin beta-propeller repeat containing 1

This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]

TECPR2 Gene

tectonin beta-propeller repeat containing 2

LOC105371788 Gene

leucine-rich repeat-containing protein 37B-like

BRWD3 Gene

bromodomain and WD repeat domain containing 3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]

BRWD1 Gene

bromodomain and WD repeat domain containing 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

LRRC37A4P Gene

leucine rich repeat containing 37, member A4, pseudogene

SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE2 Gene

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SYNE3 Gene

spectrin repeat containing, nuclear envelope family member 3

SYNE4 Gene

spectrin repeat containing, nuclear envelope family member 4

HEATR5A Gene

HEAT repeat containing 5A

HEATR5B Gene

HEAT repeat containing 5B

LOC100421674 Gene

kelch repeat and BTB (POZ) domain containing 2 pseudogene

PTAR1 Gene

protein prenyltransferase alpha subunit repeat containing 1

LOC100420765 Gene

leucine-rich pentatricopeptide repeat containing pseudogene

LRRC41 Gene

leucine rich repeat containing 41

LRRC40 Gene

leucine rich repeat containing 40

LRRC43 Gene

leucine rich repeat containing 43

LRRC42 Gene

leucine rich repeat containing 42

LRRC45 Gene

leucine rich repeat containing 45

LRRC47 Gene

leucine rich repeat containing 47

LRRC46 Gene

leucine rich repeat containing 46

LRRC49 Gene

leucine rich repeat containing 49

LRRC48 Gene

leucine rich repeat containing 48

LRRC4C Gene

leucine rich repeat containing 4C

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]

LRRC4B Gene

leucine rich repeat containing 4B

LRRC37BP1 Gene

leucine rich repeat containing 37B pseudogene 1

LRRC32 Gene

leucine rich repeat containing 32

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

LRRC36 Gene

leucine rich repeat containing 36

LRRC37A9P Gene

leucine rich repeat containing 37, member A9, pseudogene

LOC644158 Gene

leucine rich repeat containing 2 pseudogene

WDFY3 Gene

WD repeat and FYVE domain containing 3

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

WDFY2 Gene

WD repeat and FYVE domain containing 2

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

WDFY1 Gene

WD repeat and FYVE domain containing 1

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

TNRC6A Gene

trinucleotide repeat containing 6A

This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]

ARMCX6 Gene

armadillo repeat containing, X-linked 6

ARMCX5 Gene

armadillo repeat containing, X-linked 5

ARMCX4 Gene

armadillo repeat containing, X-linked 4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ARMCX3 Gene

armadillo repeat containing, X-linked 3

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

ARMCX2 Gene

armadillo repeat containing, X-linked 2

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

ARMCX1 Gene

armadillo repeat containing, X-linked 1

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

TNRC17 Gene

trinucleotide repeat containing 17

TNRC18 Gene

trinucleotide repeat containing 18

LRRC74A Gene

leucine rich repeat containing 74A

LRRC74B Gene

leucine rich repeat containing 74B

LOC105369258 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4

LRRC37A11P Gene

leucine rich repeat containing 37, member A11, pseudogene

LRRC3B Gene

leucine rich repeat containing 3B

LRRC38 Gene

leucine rich repeat containing 38

LRRC39 Gene

leucine rich repeat containing 39

LRRC30 Gene

leucine rich repeat containing 30

LRRC31 Gene

leucine rich repeat containing 31

LRRC34 Gene

leucine rich repeat containing 34

PQLC2 Gene

PQ loop repeat containing 2

GRWD1 Gene

glutamate-rich WD repeat containing 1

This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]

PQLC1 Gene

PQ loop repeat containing 1

DMWD Gene

dystrophia myotonica, WD repeat containing

TNRC18P2 Gene

trinucleotide repeat containing 18 pseudogene 2

TNRC18P3 Gene

trinucleotide repeat containing 18 pseudogene 3

ISLR2 Gene

immunoglobulin superfamily containing leucine-rich repeat 2

LOC100131280 Gene

integrin alpha FG-GAP repeat containing 2 pseudogene

LOC100288803 Gene

F-box and WD repeat domain containing 2 pseudogene

LOC101929254 Gene

leucine-rich repeat-containing protein 37B-like

MIMT1 Gene

MER1 repeat containing imprinted transcript 1 (non-protein coding)

LOC101060581 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5-like

LOC729707 Gene

transmembrane and tetratricopeptide repeat containing 4 pseudogene

NWD1 Gene

NACHT and WD repeat domain containing 1

NWD2 Gene

NACHT and WD repeat domain containing 2

PPP5D1 Gene

PPP5 tetratricopeptide repeat domain containing 1

LRRC34P2 Gene

leucine rich repeat containing 34 pseudogene 2

LRRC34P1 Gene

leucine rich repeat containing 34 pseudogene 1

WRAP53 Gene

WD repeat containing, antisense to TP53

This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]

LRRC69 Gene

leucine rich repeat containing 69

LRRC63 Gene

leucine rich repeat containing 63

LRRC61 Gene

leucine rich repeat containing 61

LRRC66 Gene

leucine rich repeat containing 66

LGR5 Gene

leucine-rich repeat containing G protein-coupled receptor 5

LGR4 Gene

leucine-rich repeat containing G protein-coupled receptor 4

G protein-coupled receptors (GPCRs) play key roles in a variety of physiologic functions. Members of the leucine-rich GPCR (LGR) family, such as GPR48, have multiple N-terminal leucine-rich repeats (LRRs) and a 7-transmembrane domain (Weng et al., 2008 [PubMed 18424556]).[supplied by OMIM, Aug 2008]

LGR6 Gene

leucine-rich repeat containing G protein-coupled receptor 6

This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

BIRC2 Gene

baculoviral IAP repeat containing 2

The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

LRSAM1 Gene

leucine rich repeat and sterile alpha motif containing 1

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

SGTB Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

SGTA Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha

This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]

WSB1 Gene

WD repeat and SOCS box containing 1

This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WSB2 Gene

WD repeat and SOCS box containing 2

This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

FBXW8 Gene

F-box and WD repeat domain containing 8

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FBXW9 Gene

F-box and WD repeat domain containing 9

Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW2 Gene

F-box and WD repeat domain containing 2

F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]

FBXW4 Gene

F-box and WD repeat domain containing 4

This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]

FBXW5 Gene

F-box and WD repeat domain containing 5

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]

FBXW7 Gene

F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

LRRC10B Gene

leucine rich repeat containing 10B

LRRC6P1 Gene

leucine rich repeat containing 6 pseudogene 1

LRRC37A7P Gene

leucine rich repeat containing 37, member A7, pseudogene

PPWD1 Gene

peptidylprolyl isomerase domain and WD repeat containing 1

BIRC8 Gene

baculoviral IAP repeat containing 8

BIRC7 Gene

baculoviral IAP repeat containing 7

This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]

BIRC6 Gene

baculoviral IAP repeat containing 6

This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]

BIRC5 Gene

baculoviral IAP repeat containing 5

This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

BIRC3 Gene

baculoviral IAP repeat containing 3

This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]

LOC642554 Gene

leucine rich repeat containing 59 pseudogene

LRRC37A Gene

leucine rich repeat containing 37A

LOC100421775 Gene

leucine rich repeat containing 8 family, member B pseudogene

LRRC2 Gene

leucine rich repeat containing 2

This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]

MORN3 Gene

MORN repeat containing 3

MORN2 Gene

MORN repeat containing 2

LOC100133244 Gene

leucine rich repeat containing 37, member A3 pseudogene

LRPPRC Gene

leucine-rich pentatricopeptide repeat containing

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

ARMC6 Gene

armadillo repeat containing 6

The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

ARMC1 Gene

armadillo repeat containing 1

TNRC18P1 Gene

trinucleotide repeat containing 18 pseudogene 1

LRRC37B Gene

leucine rich repeat containing 37B

KBTBD6 Gene

kelch repeat and BTB (POZ) domain containing 6

LRRC52 Gene

leucine rich repeat containing 52

LRRC53 Gene

leucine rich repeat containing 53

LRRC56 Gene

leucine rich repeat containing 56

LRRC57 Gene

leucine rich repeat containing 57

LRRC55 Gene

leucine rich repeat containing 55

LRRC58 Gene

leucine rich repeat containing 58

LRRC59 Gene

leucine rich repeat containing 59

LOC100533934 Gene

leucine rich repeat containing 37A pseudogene

LOC100533933 Gene

leucine rich repeat containing 37A pseudogene

LRRC14B Gene

leucine rich repeat containing 14B

LOC347674 Gene

armadillo repeat containing, X-linked 2 pseudogene

GTF2IRD2P1 Gene

GTF2I repeat domain containing 2 pseudogene 1

TMTC4 Gene

transmembrane and tetratricopeptide repeat containing 4

TMTC3 Gene

transmembrane and tetratricopeptide repeat containing 3

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

TMTC1 Gene

transmembrane and tetratricopeptide repeat containing 1

LRRC37A6P Gene

leucine rich repeat containing 37, member A6, pseudogene

LRRC37A8P Gene

leucine rich repeat containing 37, member A8, pseudogene

CTHRC1 Gene

collagen triple helix repeat containing 1

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

FBXW4P1 Gene

F-box and WD repeat domain containing 4 pseudogene 1

KATNB1 Gene

katanin p80 (WD repeat containing) subunit B 1

Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]

HEATR6 Gene

HEAT repeat containing 6

HEATR4 Gene

HEAT repeat containing 4

HEATR3 Gene

HEAT repeat containing 3

HEATR1 Gene

HEAT repeat containing 1

HEATR9 Gene

HEAT repeat containing 9

PQLC2L Gene

PQ loop repeat containing 2-like

DNER Gene

delta/notch-like EGF repeat containing

LRRC8E Gene

leucine rich repeat containing 8 family, member E

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

LRRC8D Gene

leucine rich repeat containing 8 family, member D

LRRC8A Gene

leucine rich repeat containing 8 family, member A

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

LRRC8B Gene

leucine rich repeat containing 8 family, member B

LRRC37A17P Gene

leucine rich repeat containing 37, member A17, pseudogene

TNRC6C Gene

trinucleotide repeat containing 6C

TNRC6B Gene

trinucleotide repeat containing 6B

GTF2IRD2B Gene

GTF2I repeat domain containing 2B

This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

LOC100421273 Gene

F-box and WD repeat domain containing 11 pseudogene

LRRC37A16P Gene

leucine rich repeat containing 37, member A16, pseudogene

SRPX2 Gene

sushi-repeat containing protein, X-linked 2

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010]

LRFN5 Gene

leucine rich repeat and fibronectin type III domain containing 5

LOC100419929 Gene

acidic repeat containing pseudogene

WRAP73 Gene

WD repeat containing, antisense to TP73

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]

KBTBD13 Gene

kelch repeat and BTB (POZ) domain containing 13

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

KBTBD12 Gene

kelch repeat and BTB (POZ) domain containing 12

KBTBD11 Gene

kelch repeat and BTB (POZ) domain containing 11

ARMCX7P Gene

armadillo repeat containing, X-linked 7, pseudogene

LRFN3 Gene

leucine rich repeat and fibronectin type III domain containing 3

LRFN2 Gene

leucine rich repeat and fibronectin type III domain containing 2

LRFN1 Gene

leucine rich repeat and fibronectin type III domain containing 1

LRFN4 Gene

leucine rich repeat and fibronectin type III domain containing 4

LRWD1 Gene

leucine-rich repeats and WD repeat domain containing 1

ARMC8P1 Gene

armadillo repeat containing 8 pseudogene 1

LOC105378804 Gene

leucine-rich repeat-containing protein 53

LOC105378803 Gene

leucine-rich repeat-containing protein 53-like

LOC100420850 Gene

leucine rich repeat containing 37B pseudogene

LRRC8C Gene

leucine rich repeat containing 8 family, member C

FBXW11P1 Gene

F-box and WD repeat domain containing 11 pseudogene 1

ITFG3 Gene

integrin alpha FG-GAP repeat containing 3

ITFG2 Gene

integrin alpha FG-GAP repeat containing 2

ITFG1 Gene

integrin alpha FG-GAP repeat containing 1

BTRC Gene

beta-transducin repeat containing E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]

LRRC37A5P Gene

leucine rich repeat containing 37, member A5, pseudogene

BRWD1P2 Gene

bromodomain and WD repeat domain containing 1 pseudogene 2

NHLRC3 Gene

NHL repeat containing 3

This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]

NHLRC2 Gene

NHL repeat containing 2

NHLRC1 Gene

NHL repeat containing E3 ubiquitin protein ligase 1

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

NHLRC4 Gene

NHL repeat containing 4

FBXW12 Gene

F-box and WD repeat domain containing 12

Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW10 Gene

F-box and WD repeat domain containing 10

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXW11 Gene

F-box and WD repeat domain containing 11

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]

WDPCP Gene

WD repeat containing planar cell polarity effector

This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

LRRC3C Gene

leucine rich repeat containing 3C

SRPX Gene

sushi-repeat containing protein, X-linked

STPG2 Gene

sperm-tail PG-rich repeat containing 2

STPG1 Gene

sperm-tail PG-rich repeat containing 1

ARMC10 Gene

armadillo repeat containing 10

This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in 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 3. [provided by RefSeq, Sep 2011]

ARMC12 Gene

armadillo repeat containing 12

LOC100420548 Gene

GTF2I repeat domain containing 1 pseudogene

LRRC70 Gene

leucine rich repeat containing 70

LRRC71 Gene

leucine rich repeat containing 71

LRRC72 Gene

leucine rich repeat containing 72

LRRC73 Gene

leucine rich repeat containing 73

LOC100420575 Gene

leucine rich repeat containing 57 pseudogene

LOC646030 Gene

leucine-rich repeat-containing protein 37A2-like

LOC100533935 Gene

leucine rich repeat containing 37, member A2 pseudogene

LRRC16A Gene

leucine rich repeat containing 16A

LRRC16B Gene

leucine rich repeat containing 16B

LOC100131126 Gene

leucine rich repeat containing 59 pseudogene

WDSUB1 Gene

WD repeat, sterile alpha motif and U-box domain containing 1

ARMC4P1 Gene

armadillo repeat containing 4 pseudogene 1

ARMC8 Gene

armadillo repeat containing 8

ARMC9 Gene

armadillo repeat containing 9

ARMC7 Gene

armadillo repeat containing 7

ARMC4 Gene

armadillo repeat containing 4

ARMC5 Gene

armadillo repeat containing 5

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

ARMC2 Gene

armadillo repeat containing 2

ARMC3 Gene

armadillo repeat containing 3

Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]

LOC100499471 Gene

leucine rich repeat containing 14 pseudogene

GTF2IRD1 Gene

GTF2I repeat domain containing 1

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GTF2IRD2 Gene

GTF2I repeat domain containing 2

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PQLC1P2 Gene

PQ loop repeat containing 1 pseudogene 2

LRRC75B Gene

leucine rich repeat containing 75B

LRRC75A Gene

leucine rich repeat containing 75A

LINGO4 Gene

leucine rich repeat and Ig domain containing 4

LINGO3 Gene

leucine rich repeat and Ig domain containing 3

LINGO2 Gene

leucine rich repeat and Ig domain containing 2

LINGO1 Gene

leucine rich repeat and Ig domain containing 1

ELFN1 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 1

ELFN2 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 2

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

TTC28 Gene

tetratricopeptide repeat domain 28

TTC29 Gene

tetratricopeptide repeat domain 29

TTC24 Gene

tetratricopeptide repeat domain 24

TTC25 Gene

tetratricopeptide repeat domain 25

TTC26 Gene

tetratricopeptide repeat domain 26

TTC27 Gene

tetratricopeptide repeat domain 27

TTC22 Gene

tetratricopeptide repeat domain 22

This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

TTC23 Gene

tetratricopeptide repeat domain 23

LRRN4 Gene

leucine rich repeat neuronal 4

LRRN1 Gene

leucine rich repeat neuronal 1

TTC30A Gene

tetratricopeptide repeat domain 30A

TTC30B Gene

tetratricopeptide repeat domain 30B

PTCD2P2 Gene

pentatricopeptide repeat domain 2 pseudogene 2

WDR13 Gene

WD repeat domain 13

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2009]

WDR12 Gene

WD repeat domain 12

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]

WDR11 Gene

WD repeat domain 11

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]

WDR17 Gene

WD repeat domain 17

This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]

WDR19 Gene

WD repeat domain 19

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008]

WDR18 Gene

WD repeat domain 18

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

LOC100128762 Gene

telomeric repeat binding factor 2, interacting protein pseudogene

RFWD2P1 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1

DYZ1L5 Gene

DYZ1 repeat sequence

DYZ1L6 Gene

DYZ1 repeat sequence

DYZ1L7 Gene

DYZ1 repeat sequence

DYZ1L2 Gene

DYZ1 repeat sequence

DYZ1L3 Gene

DYZ1 repeat sequence

DYZ1L8 Gene

DYZ1 repeat sequence

DYZ1L9 Gene

DYZ1 repeat sequence

TTC39CP1 Gene

tetratricopeptide repeat domain 39C pseudogene 1

TTC4P1 Gene

tetratricopeptide repeat domain 4 pseudogene 1

DAW1 Gene

dynein assembly factor with WDR repeat domains 1

LOC101060322 Gene

telomeric repeat-binding factor 1 pseudogene

WDR92 Gene

WD repeat domain 92

This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

WDR91 Gene

WD repeat domain 91

DYZ1L18 Gene

DYZ1 repeat sequence

DYZ1L16 Gene

DYZ1 repeat sequence

DYZ1L14 Gene

DYZ1 repeat sequence

DYZ1L15 Gene

DYZ1 repeat sequence

DYZ1L12 Gene

DYZ1 repeat sequence

DYZ1L10 Gene

DYZ1 repeat sequence

DYZ1L11 Gene

DYZ1 repeat sequence

LOC646127 Gene

telomeric repeat-binding factor 1 pseudogene

WDR82P2 Gene

WD repeat domain 82 pseudogene 2

TTC21B Gene

tetratricopeptide repeat domain 21B

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]

FBXL20 Gene

F-box and leucine-rich repeat protein 20

Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL21 Gene

F-box and leucine-rich repeat protein 21 (gene/pseudogene)

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. Comparisons of this gene to orthologous sequences suggest that it may be a pseudogene, and may no longer express a functional protein.[provided by RefSeq, Aug 2009]

FBXL22 Gene

F-box and leucine-rich repeat protein 22

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

TTC14 Gene

tetratricopeptide repeat domain 14

TTC17 Gene

tetratricopeptide repeat domain 17

TTC16 Gene

tetratricopeptide repeat domain 16

TTC13 Gene

tetratricopeptide repeat domain 13

TTC12 Gene

tetratricopeptide repeat domain 12

TTC19 Gene

tetratricopeptide repeat domain 19

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]

LRRK1 Gene

leucine-rich repeat kinase 1

LRRK2 Gene

leucine-rich repeat kinase 2

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]

PHLPP1 Gene

PH domain and leucine rich repeat protein phosphatase 1

This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]

MROH3P Gene

maestro heat-like repeat family member 3, pseudogene

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

LOC100287965 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene

LOC728853 Gene

WD repeat domain 87 pseudogene

LOC100288437 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene

LRRN3 Gene

leucine rich repeat neuronal 3

LRRN2 Gene

leucine rich repeat neuronal 2

The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

LOC100419096 Gene

WD repeat domain 12 pseudogene

TTC9C Gene

tetratricopeptide repeat domain 9C

TTC9B Gene

tetratricopeptide repeat domain 9B

WDR7 Gene

WD repeat domain 7

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

WDR6 Gene

WD repeat domain 6

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. [provided by RefSeq, Aug 2008]

WDR5 Gene

WD repeat domain 5

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

WDR4 Gene

WD repeat domain 4

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

WDR3 Gene

WD repeat domain 3

This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

WDR1 Gene

WD repeat domain 1

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC401127 Gene

WD repeat domain 5 pseudogene

TERF1P1 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 1

TERF1P3 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3

TERF1P2 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2

TERF1P5 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 5

TERF1P4 Gene

telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4

WDR41 Gene

WD repeat domain 41

WDR43 Gene

WD repeat domain 43

WDR44 Gene

WD repeat domain 44

This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

WDR45 Gene

WD repeat domain 45

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

WDR46 Gene

WD repeat domain 46

WDR47 Gene

WD repeat domain 47

WDR48 Gene

WD repeat domain 48

WDR49 Gene

WD repeat domain 49

DYZ1L27 Gene

DYZ1 repeat sequence

DYZ1L26 Gene

DYZ1 repeat sequence

DYZ1L25 Gene

DYZ1 repeat sequence

DYZ1L22 Gene

DYZ1 repeat sequence

DYZ1L21 Gene

DYZ1 repeat sequence

DYZ1L20 Gene

DYZ1 repeat sequence

WDR45BP1 Gene

WD repeat domain 45B pseudogene 1

DYZ1L24 Gene

DYZ1 repeat sequence

DYZ1L23 Gene

DYZ1 repeat sequence

LOC101930132 Gene

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

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]

WDHD1 Gene

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PTCD2P1 Gene

pentatricopeptide repeat domain 2 pseudogene 1

FBXL3 Gene

F-box and leucine-rich repeat protein 3

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL5 Gene

F-box and leucine-rich repeat protein 5

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]

TTC41P Gene

tetratricopeptide repeat domain 41, pseudogene

LOC100130618 Gene

tetratricopeptide repeat domain 14 pseudogene

WDR45B Gene

WD repeat domain 45B

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]

WDR45P Gene

WD repeat domain 45 pseudogene

WDR78 Gene

WD repeat domain 78

WDR70 Gene

WD repeat domain 70

WDR73 Gene

WD repeat domain 73

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

WDR72 Gene

WD repeat domain 72

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

WDR75 Gene

WD repeat domain 75

WDR74 Gene

WD repeat domain 74

WDR77 Gene

WD repeat domain 77

WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM, Mar 2008]

WDR76 Gene

WD repeat domain 76

LRRFIP1 Gene

leucine rich repeat (in FLII) interacting protein 1

LRRFIP2 Gene

leucine rich repeat (in FLII) interacting protein 2

CGGBP1 Gene

CGG triplet repeat binding protein 1

CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008]

TTC33 Gene

tetratricopeptide repeat domain 33

TTC32 Gene

tetratricopeptide repeat domain 32

TTC31 Gene

tetratricopeptide repeat domain 31

TTC37 Gene

tetratricopeptide repeat domain 37

This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

TTC36 Gene

tetratricopeptide repeat domain 36

TTC34 Gene

tetratricopeptide repeat domain 34

TTC38 Gene

tetratricopeptide repeat domain 38

LOC392529 Gene

cordon-bleu WH2 repeat protein pseudogene

DYZ1L4 Gene

DYZ1 repeat sequence

DYZ1L1 Gene

DYZ1 repeat sequence

WDR26 Gene

WD repeat domain 26

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WDR27 Gene

WD repeat domain 27

WDR24 Gene

WD repeat domain 24

WDR25 Gene

WD repeat domain 25

WDR20 Gene

WD repeat domain 20

This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

MROH2A Gene

maestro heat-like repeat family member 2A

WDR53 Gene

WD repeat domain 53

This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

LOC100130487 Gene

WD repeat domain 89 pseudogene

LOC402076 Gene

F-box and leucine-rich repeat protein 12 pseudogene

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]

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]

FBXL4 Gene

F-box and leucine-rich repeat protein 4

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

WDR86 Gene

WD repeat domain 86

LOC100132009 Gene

pentatricopeptide repeat domain 3 pseudogene

FBXL13 Gene

F-box and leucine-rich repeat protein 13

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL12 Gene

F-box and leucine-rich repeat protein 12

Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL15 Gene

F-box and leucine-rich repeat protein 15

FBXL17 Gene

F-box and leucine-rich repeat protein 17

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL16 Gene

F-box and leucine-rich repeat protein 16

Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL18 Gene

F-box and leucine-rich repeat protein 18

Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

TERF2 Gene

telomeric repeat binding factor 2

This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]

TERF1 Gene

telomeric repeat binding factor (NIMA-interacting) 1

This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]

TTC5 Gene

tetratricopeptide repeat domain 5

TTC4 Gene

tetratricopeptide repeat domain 4

This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]

TTC6 Gene

tetratricopeptide repeat domain 6

TTC1 Gene

tetratricopeptide repeat domain 1

This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

TTC3 Gene

tetratricopeptide repeat domain 3

TTC9 Gene

tetratricopeptide repeat domain 9

This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]

TTC8 Gene

tetratricopeptide repeat domain 8

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC100420742 Gene

tetratricopeptide repeat domain 22 pseudogene

PTCD2 Gene

pentatricopeptide repeat domain 2

PTCD3 Gene

pentatricopeptide repeat domain 3

PTCD1 Gene

pentatricopeptide repeat domain 1

LGI4 Gene

leucine-rich repeat LGI family, member 4

LGI2 Gene

leucine-rich repeat LGI family, member 2

LGI3 Gene

leucine-rich repeat LGI family, member 3

MROH6 Gene

maestro heat-like repeat family member 6

MROH1 Gene

maestro heat-like repeat family member 1

WDR90 Gene

WD repeat domain 90

DYZ1L19 Gene

DYZ1 repeat sequence

DYZ1L17 Gene

DYZ1 repeat sequence

DYZ1L13 Gene

DYZ1 repeat sequence

LOC100128335 Gene

WD repeat domain 12 pseudogene

MROH2B Gene

maestro heat-like repeat family member 2B

LOC391383 Gene

WD repeat domain 4 pseudogene

WDR5B Gene

WD repeat domain 5B

This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]

WDR55 Gene

WD repeat domain 55

WDR54 Gene

WD repeat domain 54

WDR59 Gene

WD repeat domain 59

TTC3P1 Gene

tetratricopeptide repeat domain 3 pseudogene 1

LOC100130607 Gene

WD repeat domain 4 pseudogene

LOC751837 Gene

WD repeat domain 57 (U5 snRNP specific) pseudogene

TTC39C Gene

tetratricopeptide repeat domain 39C

TTC39B Gene

tetratricopeptide repeat domain 39B

TTC39A Gene

tetratricopeptide repeat domain 39A

WDR60 Gene

WD repeat domain 60

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

LOC100533628 Gene

WD repeat domain 75 pseudogene

TTC21A Gene

tetratricopeptide repeat domain 21A

PRELP Gene

proline/arginine-rich end leucine-rich repeat protein

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

LRRTM4 Gene

leucine rich repeat transmembrane neuronal 4

LRRTM1 Gene

leucine rich repeat transmembrane neuronal 1

LRRTM3 Gene

leucine rich repeat transmembrane neuronal 3

LRRTM2 Gene

leucine rich repeat transmembrane neuronal 2

COBL Gene

cordon-bleu WH2 repeat protein

FBXL8 Gene

F-box and leucine-rich repeat protein 8

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

FBXL2 Gene

F-box and leucine-rich repeat protein 2

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

FBXL7 Gene

F-box and leucine-rich repeat protein 7

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

FBXL6 Gene

F-box and leucine-rich repeat protein 6

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

WDR87 Gene

WD repeat domain 87

WDR81 Gene

WD repeat domain 81

This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

WDR82 Gene

WD repeat domain 82

TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]

WDR83 Gene

WD repeat domain 83

This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

WDR88 Gene

WD repeat domain 88

WDR89 Gene

WD repeat domain 89

TERF2IP Gene

telomeric repeat binding factor 2, interacting protein

The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]

ERDA1 Gene

expanded repeat domain, CAG/CTG 1

WIPI2 Gene

WD repeat domain, phosphoinositide interacting 2

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

WIPI1 Gene

WD repeat domain, phosphoinositide interacting 1

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

TTC39DP Gene

tetratricopeptide repeat domain 39D, pseudogene

WDR82P1 Gene

WD repeat domain 82 pseudogene 1

LRRFIP1P1 Gene

leucine rich repeat (in FLII) interacting protein 1 pseudogene 1

LOC100289185 Gene

telomeric repeat-binding factor 1 pseudogene

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]

LOC100421684 Gene

tetratricopeptide repeat domain 34 pseudogene

LOC100421685 Gene

tetratricopeptide repeat domain 34 pseudogene

WDR35 Gene

WD repeat domain 35

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

WDR34 Gene

WD repeat domain 34

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

WDR37 Gene

WD repeat domain 37

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

WDR36 Gene

WD repeat domain 36

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]

WDR31 Gene

WD repeat domain 31

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

WDR33 Gene

WD repeat domain 33

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WDR38 Gene

WD repeat domain 38

LRIT2 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

LRIT3 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT1 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

PHLPP2 Gene

PH domain and leucine rich repeat protein phosphatase 2

RFWD2 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase

RFWD3 Gene

ring finger and WD repeat domain 3

LRR1 Gene

leucine rich repeat protein 1

The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

LRRCC1 Gene

leucine rich repeat and coiled-coil centrosomal protein 1

LOC105379422 Gene

octapeptide-repeat protein T2-like

TERF2IPP1 Gene

telomeric repeat binding factor 2, interacting protein pseudogene 1

LOC100419174 Gene

WD repeat domain 12 pseudogene

LOC100129078 Gene

tetratricopeptide repeat domain 5 pseudogene

WDR93 Gene

WD repeat domain 93

LOC100128050 Gene

WD repeat domain 77 pseudogene

TTC7B Gene

tetratricopeptide repeat domain 7B

TTC7A Gene

tetratricopeptide repeat domain 7A

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

LOC100128738 Gene

leucine rich repeat (in FLII) interacting protein 2 pseudogene

MROH5 Gene

maestro heat-like repeat family member 5

WDR62 Gene

WD repeat domain 62

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

WDR63 Gene

WD repeat domain 63

WDR61 Gene

WD repeat domain 61

WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]

WDR66 Gene

WD repeat domain 66

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

WDR64 Gene

WD repeat domain 64

TTC23L Gene

tetratricopeptide repeat domain 23-like

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]

WDR83OS Gene

WD repeat domain 83 opposite strand

MROH4P Gene

maestro heat-like repeat family member 4, pseudogene

ARVCF Gene

armadillo repeat gene deleted in velocardiofacial syndrome

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

WDR95P Gene

WD repeat domain 95, pseudogene

LOC102724602 Gene

COMM domain-containing protein 6-like

NLRP14 Gene

NLR family, pyrin domain containing 14

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

KDELC1P1 Gene

KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1

LOC105378955 Gene

tripartite motif-containing protein LOC642612

LOC102724971 Gene

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

CCDC178 Gene

coiled-coil domain containing 178

CCDC170 Gene

coiled-coil domain containing 170

The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

CCDC172 Gene

coiled-coil domain containing 172

CCDC173 Gene

coiled-coil domain containing 173

CCDC174 Gene

coiled-coil domain containing 174

CCDC175 Gene

coiled-coil domain containing 175

CCDC176 Gene

coiled-coil domain containing 176

CCDC177 Gene

coiled-coil domain containing 177

LOC100420545 Gene

abhydrolase domain containing 15 pseudogene

LOC100420541 Gene

abhydrolase domain containing 15 pseudogene

RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

GGA1 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGA3 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA2 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

FHOD1 Gene

formin homology 2 domain containing 1

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. [provided by RefSeq, Jul 2008]

FHOD3 Gene

formin homology 2 domain containing 3

Proteins that contain formin (FMN1; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM, Apr 2010]

NACC2 Gene

NACC family member 2, BEN and BTB (POZ) domain containing

NACC1 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

LOC100288028 Gene

coiled-coil domain containing 59 pseudogene

MACROD2 Gene

MACRO domain containing 2

MACROD1 Gene

MACRO domain containing 1

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

LOC100419750 Gene

DTW domain containing 1 pseudogene

GPATCH2 Gene

G patch domain containing 2

TRIM75P Gene

tripartite motif containing 75, pseudogene

SRRD Gene

SRR1 domain containing

SORBS1 Gene

sorbin and SH3 domain containing 1

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SORBS3 Gene

sorbin and SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SORBS2 Gene

sorbin and SH3 domain containing 2

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ZSCAN5CP Gene

zinc finger and SCAN domain containing 5C, pseudogene

ZSWIM5P3 Gene

zinc finger, SWIM-type containing 5 pseudogene 3

ZSWIM5P2 Gene

zinc finger, SWIM-type containing 5 pseudogene 2

ZSWIM5P1 Gene

zinc finger, SWIM-type containing 5 pseudogene 1

CCDC70 Gene

coiled-coil domain containing 70

CCDC71 Gene

coiled-coil domain containing 71

CCDC78 Gene

coiled-coil domain containing 78

The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

CCDC79 Gene

coiled-coil domain containing 79

TATDN2P1 Gene

TatD DNase domain containing 2 pseudogene 1

LOC100420353 Gene

tripartite motif containing 60 pseudogene

ZBTB7A Gene

zinc finger and BTB domain containing 7A

ZBTB7C Gene

zinc finger and BTB domain containing 7C

ZBTB7B Gene

zinc finger and BTB domain containing 7B

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

PCNP Gene

PEST proteolytic signal containing nuclear protein

DENND2C Gene

DENN/MADD domain containing 2C

DENND2D Gene

DENN/MADD domain containing 2D

ZCCHC23 Gene

zinc finger, CCHC domain containing 23

ZCCHC24 Gene

zinc finger, CCHC domain containing 24

LOC100421259 Gene

zinc finger and BTB domain containing 14 pseudogene

SDAD1P1 Gene

SDA1 domain containing 1 pseudogene 1

SDAD1P2 Gene

SDA1 domain containing 1 pseudogene 2

SDAD1P3 Gene

SDA1 domain containing 1 pseudogene 3

CCDC162P Gene

coiled-coil domain containing 162, pseudogene

SAMD4A Gene

sterile alpha motif domain containing 4A

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

SAMD4B Gene

sterile alpha motif domain containing 4B

CDADC1 Gene

cytidine and dCMP deaminase domain containing 1

AOC2 Gene

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ZDHHC3 Gene

zinc finger, DHHC-type containing 3

GLT8D2 Gene

glycosyltransferase 8 domain containing 2

GLT8D1 Gene

glycosyltransferase 8 domain containing 1

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

EXD3 Gene

exonuclease 3'-5' domain containing 3

EXD2 Gene

exonuclease 3'-5' domain containing 2

EXD1 Gene

exonuclease 3'-5' domain containing 1

SPRYD3 Gene

SPRY domain containing 3

SPRYD4 Gene

SPRY domain containing 4

SPRYD7 Gene

SPRY domain containing 7

KLHDC4 Gene

kelch domain containing 4

KLHDC2 Gene

kelch domain containing 2

KLHDC3 Gene

kelch domain containing 3

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

KLHDC1 Gene

kelch domain containing 1

TRIM51 Gene

tripartite motif-containing 51

HDDC2 Gene

HD domain containing 2

HDDC3 Gene

HD domain containing 3

TRIM53AP Gene

tripartite motif containing 53A, pseudogene

WWOX Gene

WW domain containing oxidoreductase

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LOC340268 Gene

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

OCIAD2P1 Gene

OCIA domain containing 2 pseudogene 1

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

KCTD9P6 Gene

potassium channel tetramerization domain containing 9 pseudogene 6

RDM1 Gene

RAD52 motif containing 1

This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]

PTCHD3P2 Gene

patched domain containing 3 pseudogene 2

PTCHD3P3 Gene

patched domain containing 3 pseudogene 3

PTCHD3P1 Gene

patched domain containing 3 pseudogene 1

LOC100422530 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

TCTEX1D2 Gene

Tctex1 domain containing 2

TCTEX1D1 Gene

Tctex1 domain containing 1

LDLRAD1 Gene

low density lipoprotein receptor class A domain containing 1

LDLRAD2 Gene

low density lipoprotein receptor class A domain containing 2

LDLRAD3 Gene

low density lipoprotein receptor class A domain containing 3

CCT4P2 Gene

chaperonin containing TCP1, subunit 4 (delta) pseudogene 2

KCTD13 Gene

potassium channel tetramerization domain containing 13

KCTD12 Gene

potassium channel tetramerization domain containing 12

KCTD10 Gene

potassium channel tetramerization domain containing 10

KCTD17 Gene

potassium channel tetramerization domain containing 17

KCTD16 Gene

potassium channel tetramerization domain containing 16

KCTD15 Gene

potassium channel tetramerization domain containing 15

KCTD14 Gene

potassium channel tetramerization domain containing 14

KCTD19 Gene

potassium channel tetramerization domain containing 19

KCTD18 Gene

potassium channel tetramerization domain containing 18

PCID2 Gene

PCI domain containing 2

PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011]

EFCC1 Gene

EF-hand and coiled-coil domain containing 1

LOC100420467 Gene

glyoxalase domain containing 4 pseudogene

LOC100420464 Gene

salvador family WW domain containing protein 1 pseudogene

PBLD Gene

phenazine biosynthesis-like protein domain containing

RTFDC1 Gene

replication termination factor 2 domain containing 1

ZMYND19P1 Gene

zinc finger, MYND-type containing 19 pseudogene 1

RFFL Gene

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

TRIM9 Gene

tripartite motif containing 9

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

TRIM8 Gene

tripartite motif containing 8

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]

TRIM3 Gene

tripartite motif containing 3

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

TRIM2 Gene

tripartite motif containing 2

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

TRIM5 Gene

tripartite motif containing 5

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]

TRIM4 Gene

tripartite motif containing 4

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]

TRIM7 Gene

tripartite motif containing 7

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TRIM6 Gene

tripartite motif containing 6

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]

LOC153893 Gene

DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) pseudogene

CCDC171 Gene

coiled-coil domain containing 171

SH2D1B Gene

SH2 domain containing 1B

By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

SH2D1A Gene

SH2 domain containing 1A

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CSDC2 Gene

cold shock domain containing C2, RNA binding

LYPD4 Gene

LY6/PLAUR domain containing 4

LYPD5 Gene

LY6/PLAUR domain containing 5

LYPD2 Gene

LY6/PLAUR domain containing 2

LYPD3 Gene

LY6/PLAUR domain containing 3

LYPD1 Gene

LY6/PLAUR domain containing 1

LYPD8 Gene

LY6/PLAUR domain containing 8

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

LOC101928879 Gene

COMM domain-containing protein 5-like

LOC730076 Gene

zinc finger domain containing pseudogene

CISH Gene

cytokine inducible SH2-containing protein

The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

RGAG4 Gene

retrotransposon gag domain containing 4

RGAG1 Gene

retrotransposon gag domain containing 1

EEPD1 Gene

endonuclease/exonuclease/phosphatase family domain containing 1

SOSTDC1 Gene

sclerostin domain containing 1

This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]

TRABD2A Gene

TraB domain containing 2A

TRABD2B Gene

TraB domain containing 2B

CDPF1 Gene

cysteine-rich, DPF motif domain containing 1

WWP2 Gene

WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. 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 10. [provided by RefSeq, Jul 2012]

WWP1 Gene

WW domain containing E3 ubiquitin protein ligase 1

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]

GATAD1 Gene

GATA zinc finger domain containing 1

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

LOC105379252 Gene

coiled-coil domain-containing protein 29-like

KLHDC8A Gene

kelch domain containing 8A

This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

RLTPR Gene

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing

UBAC2 Gene

UBA domain containing 2

UBAC1 Gene

UBA domain containing 1

LOC100533670 Gene

tripartite motif containing 60 pseudogene

LOC100533677 Gene

coiled-coil domain containing 176 pseudogene

RHBDD2 Gene

rhomboid domain containing 2

RHBDD3 Gene

rhomboid domain containing 3

RHBDD1 Gene

rhomboid domain containing 1

CHCHD2 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2

CHCHD3 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3

CHCHD6 Gene

coiled-coil-helix-coiled-coil-helix domain containing 6

CHCHD7 Gene

coiled-coil-helix-coiled-coil-helix domain containing 7

CHCHD4 Gene

coiled-coil-helix-coiled-coil-helix domain containing 4

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

CHCHD5 Gene

coiled-coil-helix-coiled-coil-helix domain containing 5

LOC387770 Gene

tripartite motif containing 49D1 pseudogene

SPHKAP Gene

SPHK1 interactor, AKAP domain containing

CRADD Gene

CASP2 and RIPK1 domain containing adaptor with death domain

The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq, Jul 2008]

IQCA1 Gene

IQ motif containing with AAA domain 1

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

LYRM5 Gene

LYR motif containing 5

GDPD2 Gene

glycerophosphodiester phosphodiesterase domain containing 2

This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GDPD3 Gene

glycerophosphodiester phosphodiesterase domain containing 3

GDPD4 Gene

glycerophosphodiester phosphodiesterase domain containing 4

GDPD5 Gene

glycerophosphodiester phosphodiesterase domain containing 5

Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]

ROCK1 Gene

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq, Jul 2008]

ROCK2 Gene

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

LOC100130574 Gene

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

LOC100130571 Gene

coiled-coil domain containing 107 pseudogene

PCED1CP Gene

PC-esterase domain containing 1C, pseudogene

NT5DC4 Gene

5'-nucleotidase domain containing 4

NT5DC2 Gene

5'-nucleotidase domain containing 2

NT5DC1 Gene

5'-nucleotidase domain containing 1

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

RUSC2 Gene

RUN and SH3 domain containing 2

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUSC1 Gene

RUN and SH3 domain containing 1

LZIC Gene

leucine zipper and CTNNBIP1 domain containing

TRIM60P7Y Gene

tripartite motif containing 60 pseudogene 7, Y-linked

BEND3P3 Gene

BEN domain containing 3 pseudogene 3

BEND3P2 Gene

BEN domain containing 3 pseudogene 2

FMO9P Gene

flavin containing monooxygenase 9 pseudogene

ZC3H12A Gene

zinc finger CCCH-type containing 12A

ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]

ZC3H12B Gene

zinc finger CCCH-type containing 12B

The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]

ZC3H12C Gene

zinc finger CCCH-type containing 12C

ZC3H12D Gene

zinc finger CCCH-type containing 12D

LOC102725070 Gene

coiled-coil domain-containing protein 29-like

ZFYVE21 Gene

zinc finger, FYVE domain containing 21

RWDD2A Gene

RWD domain containing 2A

RWDD2B Gene

RWD domain containing 2B

UBALD1 Gene

UBA-like domain containing 1

UBALD2 Gene

UBA-like domain containing 2

BROX Gene

BRO1 domain and CAAX motif containing

NRDE2 Gene

NRDE-2, necessary for RNA interference, domain containing

ZAK Gene

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC645626 Gene

coiled-coil domain containing 29-like

SPTY2D1 Gene

SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)

CASD1 Gene

CAS1 domain containing 1

VSTM5 Gene

V-set and transmembrane domain containing 5

VSTM4 Gene

V-set and transmembrane domain containing 4

VSTM1 Gene

V-set and transmembrane domain containing 1

TRIM43CP Gene

tripartite motif containing 43C, pseudogene

LOC100288211 Gene

PPPDE peptidase domain containing 1 pseudogene

ZBTB45P2 Gene

zinc finger and BTB domain containing 45 pseudogene 2

ZBTB45P1 Gene

zinc finger and BTB domain containing 45 pseudogene 1

HERC1 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HERC3 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HERC2 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC5 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]

HERC4 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HERC6 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

TBCCD1 Gene

TBCC domain containing 1

PLEKHF1 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 1

PLEKHF2 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 2

SAMD5 Gene

sterile alpha motif domain containing 5

SAMD7 Gene

sterile alpha motif domain containing 7

SAMD1 Gene

sterile alpha motif domain containing 1

SAMD3 Gene

sterile alpha motif domain containing 3

SAMD8 Gene

sterile alpha motif domain containing 8

SAMD9 Gene

sterile alpha motif domain containing 9

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

CCDC101 Gene

coiled-coil domain containing 101

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

FAHD2B Gene

fumarylacetoacetate hydrolase domain containing 2B

FAHD2A Gene

fumarylacetoacetate hydrolase domain containing 2A

CCDC105 Gene

coiled-coil domain containing 105

CCDC107 Gene

coiled-coil domain containing 107

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

CCDC106 Gene

coiled-coil domain containing 106

CCDC108 Gene

coiled-coil domain containing 108

PEF1 Gene

penta-EF-hand domain containing 1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

AARD Gene

alanine and arginine rich domain containing protein

FAHD1 Gene

fumarylacetoacetate hydrolase domain containing 1

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]

PDDC1 Gene

Parkinson disease 7 domain containing 1

TRIM60P16 Gene

tripartite motif containing 60 pseudogene 16

TRIM60P17 Gene

tripartite motif containing 60 pseudogene 17

TRIM60P18 Gene

tripartite motif containing 60 pseudogene 18

TRIM60P19 Gene

tripartite motif containing 60 pseudogene 19

LOC100130049 Gene

ribosomal L1 domain-containing protein 1-like

SPRED1 Gene

sprouty-related, EVH1 domain containing 1

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

SPRED2 Gene

sprouty-related, EVH1 domain containing 2

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

SPRED3 Gene

sprouty-related, EVH1 domain containing 3

This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

CRISPLD2 Gene

cysteine-rich secretory protein LCCL domain containing 2

CRISPLD1 Gene

cysteine-rich secretory protein LCCL domain containing 1

MDGA1 Gene

MAM domain containing glycosylphosphatidylinositol anchor 1

MDGA2 Gene

MAM domain containing glycosylphosphatidylinositol anchor 2

DDRGK1 Gene

DDRGK domain containing 1

MFSD10 Gene

major facilitator superfamily domain containing 10

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PRDM5 Gene

PR domain containing 5

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

KHDC1 Gene

KH homology domain containing 1

DALRD3 Gene

DALR anticodon binding domain containing 3

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

INF2 Gene

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

CHCHD10 Gene

coiled-coil-helix-coiled-coil-helix domain containing 10

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

CNTD1 Gene

cyclin N-terminal domain containing 1

CNTD2 Gene

cyclin N-terminal domain containing 2

DCDC2B Gene

doublecortin domain containing 2B

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]

DCDC2C Gene

doublecortin domain containing 2C

PRDM9 Gene

PR domain containing 9

The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM, Mar 2008]

LOC100128795 Gene

coiled-coil domain-containing protein 144A-like

BTBD7P1 Gene

BTB (POZ) domain containing 7 pseudogene 1

PDZRN4 Gene

PDZ domain containing ring finger 4

PDZRN3 Gene

PDZ domain containing ring finger 3

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

LOC388955 Gene

PRELI domain-containing protein 1, mitochondrial pseudogene

DENND1C Gene

DENN/MADD domain containing 1C

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1B Gene

DENN/MADD domain containing 1B

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1A Gene

DENN/MADD domain containing 1A

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

ZCCHC12 Gene

zinc finger, CCHC domain containing 12

ZCCHC11 Gene

zinc finger, CCHC domain containing 11

ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]

ZCCHC10 Gene

zinc finger, CCHC domain containing 10

ZCCHC17 Gene

zinc finger, CCHC domain containing 17

ZCCHC16 Gene

zinc finger, CCHC domain containing 16

ZCCHC14 Gene

zinc finger, CCHC domain containing 14

ZCCHC18 Gene

zinc finger, CCHC domain containing 18

IMPAD1 Gene

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

CENPBD1 Gene