Name

ASXL1 Gene

additional sex combs like transcriptional regulator 1

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

ASXL3 Gene

additional sex combs like transcriptional regulator 3

ASXL2 Gene

additional sex combs like transcriptional regulator 2

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

SCML2 Gene

sex comb on midleg-like 2 (Drosophila)

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

SCML1 Gene

sex comb on midleg-like 1 (Drosophila)

SCML4 Gene

sex comb on midleg-like 4 (Drosophila)

SHBG Gene

sex hormone-binding globulin

This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

SOX30 Gene

SRY (sex determining region Y)-box 30

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]

SOX18 Gene

SRY (sex determining region Y)-box 18

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]

SOX10 Gene

SRY (sex determining region Y)-box 10

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]

SOX11 Gene

SRY (sex determining region Y)-box 11

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]

SOX12 Gene

SRY (sex determining region Y)-box 12

Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]

SOX13 Gene

SRY (sex determining region Y)-box 13

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]

SOX14 Gene

SRY (sex determining region Y)-box 14

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]

SOX15 Gene

SRY (sex determining region Y)-box 15

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

SOX17 Gene

SRY (sex determining region Y)-box 17

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

SCMH1 Gene

sex comb on midleg homolog 1 (Drosophila)

SRXX2 Gene

46XX sex reversal 2

SRXX3 Gene

46XX sex reversal 3

SOX8 Gene

SRY (sex determining region Y)-box 8

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]

SOX9 Gene

SRY (sex determining region Y)-box 9

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]

SOX2 Gene

SRY (sex determining region Y)-box 2

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]

SOX3 Gene

SRY (sex determining region Y)-box 3

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008]

SOX1 Gene

SRY (sex determining region Y)-box 1

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]

SOX6 Gene

SRY (sex determining region Y)-box 6

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

SOX7 Gene

SRY (sex determining region Y)-box 7

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]

SOX4 Gene

SRY (sex determining region Y)-box 4

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]

SOX5 Gene

SRY (sex determining region Y)-box 5

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SRY Gene

sex determining region Y

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

SOX21 Gene

SRY (sex determining region Y)-box 21

SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004]

SOX5P Gene

SRY (sex determining region Y)-box 5 pseudogene

SOX30P1 Gene

SRY (sex determining region Y)-box 30 pseudogene 1

SXGQTL1 Gene

Sex hormone-binding blobulin circulating level QTL 1

C19ORF12 Gene

chromosome 19 open reading frame 12

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

C10ORF88 Gene

chromosome 10 open reading frame 88

LOC100288542 Gene

chromosome 14 open reading frame 119 pseudogene

C22ORF39 Gene

chromosome 22 open reading frame 39

C22ORF31 Gene

chromosome 22 open reading frame 31

C22ORF34 Gene

chromosome 22 open reading frame 34

C1ORF189 Gene

chromosome 1 open reading frame 189

C1ORF185 Gene

chromosome 1 open reading frame 185

C1ORF186 Gene

chromosome 1 open reading frame 186

CXORF58 Gene

chromosome X open reading frame 58

CXORF56 Gene

chromosome X open reading frame 56

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

CXORF57 Gene

chromosome X open reading frame 57

C12ORF4 Gene

chromosome 12 open reading frame 4

C14ORF119 Gene

chromosome 14 open reading frame 119

C18ORF15 Gene

chromosome 18 open reading frame 15

DUP5P13 Gene

Chromosome 5p13 duplication syndrome

C10ORF105 Gene

chromosome 10 open reading frame 105

C10ORF107 Gene

chromosome 10 open reading frame 107

BMIQ7 Gene

Obesity, susceptibility to, on chromosome 4

C1ORF234 Gene

chromosome 1 open reading frame 234

C2ORF81 Gene

chromosome 2 open reading frame 81

LOC100420788 Gene

chromosome 2 open reading frame 27A pseudogene

C14ORF79 Gene

chromosome 14 open reading frame 79

C20ORF96 Gene

chromosome 20 open reading frame 96

C17ORF47 Gene

chromosome 17 open reading frame 47

C17ORF49 Gene

chromosome 17 open reading frame 49

DEL15Q26QTER Gene

Chromosome 15q26-qter deletion syndrome

C11ORF49 Gene

chromosome 11 open reading frame 49

C11ORF40 Gene

chromosome 11 open reading frame 40

C11ORF42 Gene

chromosome 11 open reading frame 42

C11ORF45 Gene

chromosome 11 open reading frame 45

C19ORF18 Gene

chromosome 19 open reading frame 18

C7ORF43 Gene

chromosome 7 open reading frame 43

LOC100420668 Gene

chromosome 2 open reading frame 16 pseudogene

C9ORF118 Gene

chromosome 9 open reading frame 118

C9ORF117 Gene

chromosome 9 open reading frame 117

C9ORF116 Gene

chromosome 9 open reading frame 116

C9ORF114 Gene

chromosome 9 open reading frame 114

LOC724065 Gene

chromosome 19 open reading frame 53 pseudogene

C20ORF197 Gene

chromosome 20 open reading frame 197

C1ORF100 Gene

chromosome 1 open reading frame 100

C1ORF101 Gene

chromosome 1 open reading frame 101

C1ORF105 Gene

chromosome 1 open reading frame 105

C1ORF106 Gene

chromosome 1 open reading frame 106

C1ORF109 Gene

chromosome 1 open reading frame 109

LOC100526839 Gene

chromosome 18 open reading frame 32 pseudogene

LOC100526838 Gene

chromosome 18 open reading frame 32 pseudogene

C4ORF36 Gene

chromosome 4 open reading frame 36

C4ORF32 Gene

chromosome 4 open reading frame 32

C8ORF33 Gene

chromosome 8 open reading frame 33

C8ORF31 Gene

chromosome 8 open reading frame 31

C8ORF37 Gene

chromosome 8 open reading frame 37

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

C8ORF34 Gene

chromosome 8 open reading frame 34

C3ORF67 Gene

chromosome 3 open reading frame 67

C3ORF62 Gene

chromosome 3 open reading frame 62

XCE Gene

X chromosome controlling element

DCR Gene

Down syndrome chromosome region

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.[supplied by OMIM, Apr 2005]

DEL15Q11.2 Gene

Chromosome 15q11.2 deletion syndrome

C16ORF46 Gene

chromosome 16 open reading frame 46

LOC646058 Gene

chromosome 4 open reading frame 27 pseudogene

CXORF49B Gene

chromosome X open reading frame 49B

DEL1Q43Q44 Gene

Chromosome 1q42-q44 deletion syndrome

C10ORF82 Gene

chromosome 10 open reading frame 82

LOC100859919 Gene

chromosome 9 open reading frame 86 pseudogene 2

LOC100129478 Gene

chromosome 4 open reading frame 46 pseudogene

C1ORF27 Gene

chromosome 1 open reading frame 27

S7 Gene

surface antigen (chromosome 7) 2

C9ORF92 Gene

chromosome 9 open reading frame 92

C18ORF32 Gene

chromosome 18 open reading frame 32

C7ORF34 Gene

chromosome 7 open reading frame 34

C7ORF33 Gene

chromosome 7 open reading frame 33

C7ORF31 Gene

chromosome 7 open reading frame 31

CXDUPQ26.3 Gene

Chromosome Xq26.3 duplication syndrome

ADIPQTL2 Gene

Circulating adiponectin QTL on chromosome 5

C6ORF99 Gene

chromosome 6 open reading frame 99

BMIQ10 Gene

Obesity, susceptibility to, on chromosome 10q

BMIQ16 Gene

Chromosome 16p11.2 deletion syndrome, 220kb

DEL19P13.13 Gene

Chromosome 19p13.13 deletion syndrome

TRIP4Q32.1Q32.2 Gene

Chromosome 4q32.1-q32.2 triplication syndrome

C3CER1 Gene

chromosome 3 common eliminated region 1

DEL3Q13.31 Gene

Chromosome 3q13.31 deletion syndrome

C19ORF66 Gene

chromosome 19 open reading frame 66

C19ORF60 Gene

chromosome 19 open reading frame 60

C19ORF68 Gene

chromosome 19 open reading frame 68

C6ORF132 Gene

chromosome 6 open reading frame 132

C6ORF136 Gene

chromosome 6 open reading frame 136

C12ORF56 Gene

chromosome 12 open reading frame 56

DEL15Q25 Gene

Chromosome 15q25 deletion syndrome

C12ORF50 Gene

chromosome 12 open reading frame 50

NHCP1 Gene

non-histone chromosome protein 1

C21ORF33 Gene

chromosome 21 open reading frame 33

This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

LOC101241902 Gene

chromosome 4 open reading frame 46 pseudogene

C2ORF49 Gene

chromosome 2 open reading frame 49

C2ORF48 Gene

chromosome 2 open reading frame 48

C2ORF44 Gene

chromosome 2 open reading frame 44

C2ORF47 Gene

chromosome 2 open reading frame 47

C2ORF40 Gene

chromosome 2 open reading frame 40

C2ORF42 Gene

chromosome 2 open reading frame 42

DELXP21 Gene

Chromosome Xp21 deletion syndrome

C20ORF141 Gene

chromosome 20 open reading frame 141

C20ORF144 Gene

chromosome 20 open reading frame 144

DEL17Q12 Gene

Chromosome 17q12 deletion syndrome

LOC100505642 Gene

chromosome 9 open reading frame 85 pseudogene

C8ORF89 Gene

chromosome 8 open reading frame 89

C8ORF88 Gene

chromosome 8 open reading frame 88

C8ORF82 Gene

chromosome 8 open reading frame 82

C8ORF87 Gene

chromosome 8 open reading frame 87

C8ORF86 Gene

chromosome 8 open reading frame 86

C14ORF169 Gene

chromosome 14 open reading frame 169

C14ORF166 Gene

chromosome 14 open reading frame 166

C6ORF10 Gene

chromosome 6 open reading frame 10

C6ORF15 Gene

chromosome 6 open reading frame 15

LOC105369237 Gene

sperm protein associated with the nucleus on the X chromosome B/F

C17ORF99 Gene

chromosome 17 open reading frame 99

C17ORF98 Gene

chromosome 17 open reading frame 98

C17ORF97 Gene

chromosome 17 open reading frame 97

C17ORF96 Gene

chromosome 17 open reading frame 96

C15ORF61 Gene

chromosome 15 open reading frame 61

C15ORF65 Gene

chromosome 15 open reading frame 65

C19ORF44 Gene

chromosome 19 open reading frame 44

WHCR Gene

Wolf-Hirschhorn syndrome chromosome region

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010]

DEL2Q23.1 Gene

Chromosome 2q23.1 deletion syndrome

C22ORF42 Gene

chromosome 22 open reading frame 42

C22ORF46 Gene

chromosome 22 open reading frame 46

C1ORF95 Gene

chromosome 1 open reading frame 95

C1ORF94 Gene

chromosome 1 open reading frame 94

HPCQTL19 Gene

Prostate cancer aggressiveness quantitative trait locus on chromosome 19

CXORF21 Gene

chromosome X open reading frame 21

CXORF23 Gene

chromosome X open reading frame 23

LOC727964 Gene

chromosome 2 open reading frame 69 pseudogene

LOC100420864 Gene

chromosome 11 open reading frame 58 pseudogene

C16ORF74 Gene

chromosome 16 open reading frame 74

C16ORF70 Gene

chromosome 16 open reading frame 70

C16ORF71 Gene

chromosome 16 open reading frame 71

C16ORF72 Gene

chromosome 16 open reading frame 72

C16ORF78 Gene

chromosome 16 open reading frame 78

C14ORF28 Gene

chromosome 14 open reading frame 28

C20ORF62 Gene

chromosome 20 open reading frame 62

DUP16P11.2 Gene

Chromosome 16p11.2 duplication syndrome

LOC389895 Gene

chromosome 16 open reading frame 72-like

C11ORF16 Gene

chromosome 11 open reading frame 16

C9ORF172 Gene

chromosome 9 open reading frame 172

C10ORF71 Gene

chromosome 10 open reading frame 71

C10ORF76 Gene

chromosome 10 open reading frame 76

C9ORF163 Gene

chromosome 9 open reading frame 163

C2ORF91 Gene

chromosome 2 open reading frame 91

DEL8Q21.11 Gene

Chromosome 8q21.11 deletion syndrome

C5ORF28 Gene

chromosome 5 open reading frame 28

C5ORF22 Gene

chromosome 5 open reading frame 22

C5ORF24 Gene

chromosome 5 open reading frame 24

C1ORF159 Gene

chromosome 1 open reading frame 159

C1ORF158 Gene

chromosome 1 open reading frame 158

C10ORF2 Gene

chromosome 10 open reading frame 2

This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]

C2ORF66 Gene

chromosome 2 open reading frame 66

C3ORF18 Gene

chromosome 3 open reading frame 18

C3ORF14 Gene

chromosome 3 open reading frame 14

C3ORF17 Gene

chromosome 3 open reading frame 17

LOC647996 Gene

chromosome 9 open reading frame 172 pseudogene

C1ORF233 Gene

chromosome 1 open reading frame 233

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

RCBTB2P1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

DEL9P Gene

Chromosome 9p deletion syndrome

LOC100289037 Gene

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

C9ORF62 Gene

chromosome 9 open reading frame 62

C9ORF66 Gene

chromosome 9 open reading frame 66

C9ORF64 Gene

chromosome 9 open reading frame 64

C9ORF69 Gene

chromosome 9 open reading frame 69

C12ORF60 Gene

chromosome 12 open reading frame 60

C12ORF66 Gene

chromosome 12 open reading frame 66

LOC100130170 Gene

chromosome 12 open reading frame 49 pseudogene

D6S2723E Gene

DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence

C11ORF98 Gene

chromosome 11 open reading frame 98

C11ORF97 Gene

chromosome 11 open reading frame 97

C11ORF96 Gene

chromosome 11 open reading frame 96

C11ORF95 Gene

chromosome 11 open reading frame 95

C11ORF94 Gene

chromosome 11 open reading frame 94

C11ORF91 Gene

chromosome 11 open reading frame 91

LOC100420831 Gene

chromosome 1 open reading frame 106 pseudogene

C6ORF163 Gene

chromosome 6 open reading frame 163

C6ORF165 Gene

chromosome 6 open reading frame 165

C2ORF16 Gene

chromosome 2 open reading frame 16

C2ORF15 Gene

chromosome 2 open reading frame 15

DEL2Q32Q33 Gene

Chromosome 2q32-q33 deletion syndrome

CECR5 Gene

cat eye syndrome chromosome region, candidate 5

CECR9 Gene

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

C18ORF65 Gene

chromosome 18 open reading frame 65

C18ORF63 Gene

chromosome 18 open reading frame 63

C20ORF173 Gene

chromosome 20 open reading frame 173

LOC100420911 Gene

chromosome 14 open reading frame 166 pseudogene

C7ORF69 Gene

chromosome 7 open reading frame 69

C7ORF60 Gene

chromosome 7 open reading frame 60

C7ORF61 Gene

chromosome 7 open reading frame 61

C7ORF62 Gene

chromosome 7 open reading frame 62

C7ORF65 Gene

chromosome 7 open reading frame 65

C7ORF66 Gene

chromosome 7 open reading frame 66

LOC100287427 Gene

chromosome 18 open reading frame 21 pseudogene

LOC100287425 Gene

chromosome 7 open reading frame 73 pseudogene

DEL1Q41Q42 Gene

Chromosome 1q41-q42 deletion syndrome

C6ORF25 Gene

chromosome 6 open reading frame 25

This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SS18L2P2 Gene

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

LOC100420892 Gene

chromosome 14 open reading frame 166 pseudogene

C14ORF93 Gene

chromosome 14 open reading frame 93

C15ORF32 Gene

chromosome 15 open reading frame 32

C19ORF35 Gene

chromosome 19 open reading frame 35

C11ORF44 Gene

chromosome 11 open reading frame 44

C21ORF62 Gene

chromosome 21 open reading frame 62

C21ORF2 Gene

chromosome 21 open reading frame 2

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

LOC100129667 Gene

chromosome 5 open reading frame 13 pseudogene

WBSCR27 Gene

Williams Beuren syndrome chromosome region 27

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

WBSCR28 Gene

Williams-Beuren syndrome chromosome region 28

C22ORF15 Gene

chromosome 22 open reading frame 15

DUP17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 duplication syndrome

C8ORF58 Gene

chromosome 8 open reading frame 58

C8ORF59 Gene

chromosome 8 open reading frame 59

C17ORF107 Gene

chromosome 17 open reading frame 107

C10ORF126 Gene

chromosome 10 open reading frame 126

C10ORF120 Gene

chromosome 10 open reading frame 120

C10ORF128 Gene

chromosome 10 open reading frame 128

C2ORF27A Gene

chromosome 2 open reading frame 27A

C2ORF27B Gene

chromosome 2 open reading frame 27B

C21ORF58 Gene

chromosome 21 open reading frame 58

DEL6Q24Q25 Gene

Chromosome 6q25-q25 deletion syndrome

LOC100132977 Gene

chromosome 2 open reading frame 27B pseudogene

C16ORF47 Gene

chromosome 16 open reading frame 47

C3ORF70 Gene

chromosome 3 open reading frame 70

C11ORF68 Gene

chromosome 11 open reading frame 68

C11ORF65 Gene

chromosome 11 open reading frame 65

C11ORF63 Gene

chromosome 11 open reading frame 63

C10ORF25 Gene

chromosome 10 open reading frame 25

C10ORF99 Gene

chromosome 10 open reading frame 99

LOC100127912 Gene

chromosome 2 open reading frame 27B pseudogene

SCLL Gene

Chromosome 8p11 myeloproliferative syndrome

C9ORF131 Gene

chromosome 9 open reading frame 131

C9ORF135 Gene

chromosome 9 open reading frame 135

C9ORF139 Gene

chromosome 9 open reading frame 139

C5ORF17 Gene

chromosome 5 open reading frame 17

C5ORF15 Gene

chromosome 5 open reading frame 15

C1ORF127 Gene

chromosome 1 open reading frame 127

C1ORF122 Gene

chromosome 1 open reading frame 122

C1ORF123 Gene

chromosome 1 open reading frame 123

C4ORF51 Gene

chromosome 4 open reading frame 51

C3ORF49 Gene

chromosome 3 open reading frame 49

C17ORF112 Gene

chromosome 17 open reading frame 112

C12ORF65 Gene

chromosome 12 open reading frame 65

This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

C9ORF50 Gene

chromosome 9 open reading frame 50

C9ORF57 Gene

chromosome 9 open reading frame 57

LOC100420839 Gene

chromosome 18 open reading frame 21 pseudogene

C20ORF196 Gene

chromosome 20 open reading frame 196

C20ORF195 Gene

chromosome 20 open reading frame 195

C19ORF84 Gene

chromosome 19 open reading frame 84

C19ORF80 Gene

chromosome 19 open reading frame 80

C19ORF81 Gene

chromosome 19 open reading frame 81

C14ORF37 Gene

chromosome 14 open reading frame 37

LOC100420683 Gene

chromosome X open reading frame 67 pseudogene

LOC100217367 Gene

chromosome 11 open reading frame 73 pseudogene

C1ORF43 Gene

chromosome 1 open reading frame 43

C20ORF57 Gene

chromosome 20 open reading frame 57

C18ORF54 Gene

chromosome 18 open reading frame 54

LOC100132570 Gene

chromosome 17 open reading frame 58 pseudogene

C7ORF13 Gene

chromosome 7 open reading frame 13

C4ORF33 Gene

chromosome 4 open reading frame 33

C12ORF10 Gene

chromosome 12 open reading frame 10

C15ORF41 Gene

chromosome 15 open reading frame 41

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

CECR1 Gene

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CECR2 Gene

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

CECR3 Gene

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

CECR6 Gene

cat eye syndrome chromosome region, candidate 6

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

LOC100420738 Gene

chromosome 9 open reading frame 78 pseudogene

LOC100131279 Gene

chromosome 2 open reading frame 69 pseudogene

RCC1 Gene

regulator of chromosome condensation 1

RCC2 Gene

regulator of chromosome condensation 2

ASOBS Gene

Asthma and obesity susceptibility, chromosome 16p11 inversion related

C17ORF104 Gene

chromosome 17 open reading frame 104

C17ORF105 Gene

chromosome 17 open reading frame 105

C17ORF102 Gene

chromosome 17 open reading frame 102

C17ORF100 Gene

chromosome 17 open reading frame 100

C21ORF59 Gene

chromosome 21 open reading frame 59

This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

C10ORF90 Gene

chromosome 10 open reading frame 90

C10ORF91 Gene

chromosome 10 open reading frame 91

C10ORF95 Gene

chromosome 10 open reading frame 95

LOC284269 Gene

chromosome 9 open reading frame 86 pseudogene 1

C22ORF29 Gene

chromosome 22 open reading frame 29

C22ORF23 Gene

chromosome 22 open reading frame 23

C22ORF24 Gene

chromosome 22 open reading frame 24

DUP2Q31.1 Gene

Chromosome 2q31.1 duplication syndrome

CXORF49 Gene

chromosome X open reading frame 49

LOC100420966 Gene

chromosome 17 open reading frame 98 pseudogene

LOC100420967 Gene

chromosome 2 open reading frame 27B pseudogene

C6ORF1 Gene

chromosome 6 open reading frame 1

C6ORF7 Gene

chromosome 6 open reading frame 7

C14ORF105 Gene

chromosome 14 open reading frame 105

DEL22Q11.2 Gene

Chromosome 22q11.2 deletion syndrome, distal

LOC100502572 Gene

chromosome 5 open reading frame 60 pseudogene

DEL13Q14 Gene

Chromosome 13q14 deletion syndrome

C1ORF204 Gene

chromosome 1 open reading frame 204

DUP16P13.3 Gene

Chromosome 16p13.3 duplication syndrome

C20ORF85 Gene

chromosome 20 open reading frame 85

DEL6PTER Gene

Chromosome 6pter deletion syndrome

C6ORF201 Gene

chromosome 6 open reading frame 201

C17ORF70 Gene

chromosome 17 open reading frame 70

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

C17ORF77 Gene

chromosome 17 open reading frame 77

C17ORF75 Gene

chromosome 17 open reading frame 75

C17ORF74 Gene

chromosome 17 open reading frame 74

C17ORF78 Gene

chromosome 17 open reading frame 78

SS18L2 Gene

synovial sarcoma translocation gene on chromosome 18-like 2

Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]

SS18L1 Gene

synovial sarcoma translocation gene on chromosome 18-like 1

This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C10ORF10 Gene

chromosome 10 open reading frame 10

The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]

C10ORF11 Gene

chromosome 10 open reading frame 11

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

C10ORF12 Gene

chromosome 10 open reading frame 12

C8ORF49 Gene

chromosome 8 open reading frame 49

DUPXQ28 Gene

Chromosome Xq28 duplication syndrome

C9ORF106 Gene

chromosome 9 open reading frame 106

C5ORF49 Gene

chromosome 5 open reading frame 49

C5ORF45 Gene

chromosome 5 open reading frame 45

C5ORF46 Gene

chromosome 5 open reading frame 46

C5ORF47 Gene

chromosome 5 open reading frame 47

C5ORF42 Gene

chromosome 5 open reading frame 42

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

LOC105377772 Gene

chromosome alignment-maintaining phosphoprotein 1-like

DEL2P12P11.2 Gene

Chromosome 2p12-p11.2 deletion syndrome

C8ORF22 Gene

chromosome 8 open reading frame 22

C4ORF29 Gene

chromosome 4 open reading frame 29

C4ORF22 Gene

chromosome 4 open reading frame 22

C4ORF27 Gene

chromosome 4 open reading frame 27

C4ORF26 Gene

chromosome 4 open reading frame 26

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]

DGCR Gene

DiGeorge syndrome chromosome region

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

C14ORF180 Gene

chromosome 14 open reading frame 180

LOC100887076 Gene

chromosome 9 open reading frame 172 pseudogene

ANCR Gene

Angelman syndrome chromosome region

Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]

DEL2Q31 Gene

Chromosome 2q31.2 deletion syndrome

C16ORF45 Gene

chromosome 16 open reading frame 45

LOC646408 Gene

chromosome 9 open reading frame 16 pseudogene

C16ORF58 Gene

chromosome 16 open reading frame 58

This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]

C16ORF59 Gene

chromosome 16 open reading frame 59

C16ORF52 Gene

chromosome 16 open reading frame 52

C16ORF54 Gene

chromosome 16 open reading frame 54

DEL16P12.1P11.2 Gene

Chromosome 16p12.2-p11.2 deletion syndrome

C2ORF82 Gene

chromosome 2 open reading frame 82

CHTF8 Gene

CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)

This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010]

C11ORF31 Gene

chromosome 11 open reading frame 31

This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq, Jul 2008]

DEL2P16.1-P15 Gene

Chromosome 2p16.1-p15 deletion syndrome

WBSCR17 Gene

Williams-Beuren syndrome chromosome region 17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

C5ORF34 Gene

chromosome 5 open reading frame 34

C1ORF147 Gene

chromosome 1 open reading frame 147

LOC100506911 Gene

chromosome 6 open reading frame 35 pseudogene

LOC642614 Gene

chromosome 2 open reading frame 69 pseudogene

DEL6Q11Q14 Gene

Chromosome 6q11-q14 deletion syndrome

C6ORF183 Gene

chromosome 6 open reading frame 183

C11ORF1 Gene

chromosome 11 open reading frame 1

ALS2CR11 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11

ALS2CR12 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12

C1ORF174 Gene

chromosome 1 open reading frame 174

C1ORF177 Gene

chromosome 1 open reading frame 177

C1ORF35 Gene

chromosome 1 open reading frame 35

DUP22Q11.2 Gene

Chromosome 22q11.2 microduplication syndrome

LOC100289470 Gene

chromosome 5 open reading frame 60 pseudogene

LOC101241901 Gene

chromosome 4 open reading frame 46 pseudogene

C9ORF89 Gene

chromosome 9 open reading frame 89

C9ORF84 Gene

chromosome 9 open reading frame 84

C9ORF85 Gene

chromosome 9 open reading frame 85

C1ORF68 Gene

chromosome 1 open reading frame 68

C6ORF89 Gene

chromosome 6 open reading frame 89

C12ORF49 Gene

chromosome 12 open reading frame 49

C12ORF40 Gene

chromosome 12 open reading frame 40

C12ORF43 Gene

chromosome 12 open reading frame 43

C12ORF42 Gene

chromosome 12 open reading frame 42

C12ORF45 Gene

chromosome 12 open reading frame 45

LOC100132615 Gene

chromosome 12 open reading frame 49 pseudogene

C19ORF53 Gene

chromosome 19 open reading frame 53

C19ORF52 Gene

chromosome 19 open reading frame 52

C19ORF57 Gene

chromosome 19 open reading frame 57

C19ORF54 Gene

chromosome 19 open reading frame 54

C6ORF106 Gene

chromosome 6 open reading frame 106

DUP7Q11.23 Gene

Chromosome 7q11.23 duplication syndrome

C20ORF194 Gene

chromosome 20 open reading frame 194

This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]

C19ORF71 Gene

chromosome 19 open reading frame 71

C2ORF70 Gene

chromosome 2 open reading frame 70

C2ORF71 Gene

chromosome 2 open reading frame 71

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

C2ORF73 Gene

chromosome 2 open reading frame 73

C2ORF74 Gene

chromosome 2 open reading frame 74

C2ORF76 Gene

chromosome 2 open reading frame 76

C2ORF78 Gene

chromosome 2 open reading frame 78

C6ORF120 Gene

chromosome 6 open reading frame 120

C21ORF140 Gene

chromosome 21 open reading frame 140

C7ORF49 Gene

chromosome 7 open reading frame 49

C14ORF159 Gene

chromosome 14 open reading frame 159

SS18L2P1 Gene

synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1

DEL16P13.3 Gene

Chromosome 16p13.3 deletion syndrome

LOC100420743 Gene

chromosome 6 open reading frame 58 pseudogene

C17ORF89 Gene

chromosome 17 open reading frame 89

C17ORF82 Gene

chromosome 17 open reading frame 82

C17ORF80 Gene

chromosome 17 open reading frame 80

C17ORF85 Gene

chromosome 17 open reading frame 85

C15ORF59 Gene

chromosome 15 open reading frame 59

C15ORF57 Gene

chromosome 15 open reading frame 57

C15ORF56 Gene

chromosome 15 open reading frame 56

C15ORF54 Gene

chromosome 15 open reading frame 54

C15ORF53 Gene

chromosome 15 open reading frame 53

C15ORF52 Gene

chromosome 15 open reading frame 52

LOC647503 Gene

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

TSG11 Gene

Tumor suppressor gene on chromosome 11

DEL17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 deletion syndrome

DEL1P32P31 Gene

Chromosome 1p32-p31 deletion syndrome

C8ORF76 Gene

chromosome 8 open reading frame 76

C8ORF74 Gene

chromosome 8 open reading frame 74

C16ORF86 Gene

chromosome 16 open reading frame 86

C10ORF142 Gene

chromosome 10 open reading frame 142

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

DEL14Q11Q22 Gene

Chromosome 14q11-q22 deletion syndrome

C8ORF4 Gene

chromosome 8 open reading frame 4

This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]

LOC100420879 Gene

chromosome 2 open reading frame 27B pseudogene

ASPSCR1 Gene

alveolar soft part sarcoma chromosome region, candidate 1

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

C14ORF39 Gene

chromosome 14 open reading frame 39

LOC100129574 Gene

chromosome 12 open reading frame 29 pseudogene

DUP17P13.3 Gene

Chromosome 17p13.3 duplication syndrome

LOC642669 Gene

chromosome 2 open reading frame 27A pseudogene

C1ORF21 Gene

chromosome 1 open reading frame 21

C12ORF73 Gene

chromosome 12 open reading frame 73

C12ORF76 Gene

chromosome 12 open reading frame 76

C6ORF203 Gene

chromosome 6 open reading frame 203

LOC644525 Gene

chromosome 2 open reading frame 27A pseudogene

SMCR8 Gene

Smith-Magenis syndrome chromosome region, candidate 8

SMCR2 Gene

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

SMCR6 Gene

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

C9ORF156 Gene

chromosome 9 open reading frame 156

LOC100301521 Gene

chromosome 15 open reading frame 40 pseudogene

C9ORF153 Gene

chromosome 9 open reading frame 153

C9ORF152 Gene

chromosome 9 open reading frame 152

LOC100652967 Gene

chromosome 14 open reading frame 2 pseudogene

C2ORF80 Gene

chromosome 2 open reading frame 80

C2ORF88 Gene

chromosome 2 open reading frame 88

C5ORF38 Gene

chromosome 5 open reading frame 38

C5ORF30 Gene

chromosome 5 open reading frame 30

C1ORF145 Gene

chromosome 1 open reading frame 145

C1ORF146 Gene

chromosome 1 open reading frame 146

C1ORF141 Gene

chromosome 1 open reading frame 141

C1ORF143 Gene

chromosome 1 open reading frame 143

C3ORF20 Gene

chromosome 3 open reading frame 20

C3ORF22 Gene

chromosome 3 open reading frame 22

CXORF51B Gene

chromosome X open reading frame 51B

CXORF51A Gene

chromosome X open reading frame 51A

RCC2P1 Gene

regulator of chromosome condensation 2 pseudogene 1

RCC2P2 Gene

regulator of chromosome condensation 2 pseudogene 2

RCC2P3 Gene

regulator of chromosome condensation 2 pseudogene 3

RCC2P4 Gene

regulator of chromosome condensation 2 pseudogene 4

RCC2P5 Gene

regulator of chromosome condensation 2 pseudogene 5

RCC2P6 Gene

regulator of chromosome condensation 2 pseudogene 6

RCC2P7 Gene

regulator of chromosome condensation 2 pseudogene 7

RCC2P8 Gene

regulator of chromosome condensation 2 pseudogene 8

C9ORF72 Gene

chromosome 9 open reading frame 72

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

C16ORF89 Gene

chromosome 16 open reading frame 89

This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

C16ORF82 Gene

chromosome 16 open reading frame 82

C16ORF87 Gene

chromosome 16 open reading frame 87

C11ORF88 Gene

chromosome 11 open reading frame 88

C11ORF87 Gene

chromosome 11 open reading frame 87

CSE1L Gene

CSE1 chromosome segregation 1-like (yeast)

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

CECR7 Gene

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

C3ORF79 Gene

chromosome 3 open reading frame 79

C12ORF71 Gene

chromosome 12 open reading frame 71

C12ORF74 Gene

chromosome 12 open reading frame 74

C12ORF75 Gene

chromosome 12 open reading frame 75

C12ORF77 Gene

chromosome 12 open reading frame 77

C12ORF79 Gene

chromosome 12 open reading frame 79

C15ORF39 Gene

chromosome 15 open reading frame 39

C11ORF84 Gene

chromosome 11 open reading frame 84

C11ORF85 Gene

chromosome 11 open reading frame 85

C11ORF86 Gene

chromosome 11 open reading frame 86

C11ORF80 Gene

chromosome 11 open reading frame 80

C11ORF72 Gene

chromosome 11 open reading frame 72

C19ORF33 Gene

chromosome 19 open reading frame 33

C19ORF38 Gene

chromosome 19 open reading frame 38

C19ORF67 Gene

chromosome 19 open reading frame 67

C1ORF61 Gene

chromosome 1 open reading frame 61

C1ORF64 Gene

chromosome 1 open reading frame 64

DELXP11.3 Gene

Chromosome Xp11.3 deletion syndrome

C7ORF73 Gene

chromosome 7 open reading frame 73

C7ORF72 Gene

chromosome 7 open reading frame 72

C7ORF71 Gene

chromosome 7 open reading frame 71

C10ORF55 Gene

chromosome 10 open reading frame 55

IGHDOR15@ Gene

immunoglobulin heavy diversity orphans on chromosome 15

CHTF18 Gene

CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)

CHTF18, CHTF8 (MIM 613202), and DCC1 (DSCC1; MIM 613203) are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

ADIPQTL3 Gene

Circulating adiponectin QTL on chromosome 14

C6ORF52 Gene

chromosome 6 open reading frame 52

C6ORF58 Gene

chromosome 6 open reading frame 58

DUP17Q12 Gene

Chromosome 17q12 duplication syndrome

LOC391636 Gene

chromosome 9 open reading frame 78 pseudogene

C15ORF26 Gene

chromosome 15 open reading frame 26

C15ORF27 Gene

chromosome 15 open reading frame 27

C19ORF26 Gene

chromosome 19 open reading frame 26

C19ORF24 Gene

chromosome 19 open reading frame 24

C19ORF25 Gene

chromosome 19 open reading frame 25

LOC647086 Gene

chromosome 20 open reading frame 27 pseudogene

LOC100129996 Gene

chromosome 6 open reading frame 203 pseudogene

SS18 Gene

synovial sarcoma translocation, chromosome 18

C1ORF198 Gene

chromosome 1 open reading frame 198

C1ORF196 Gene

chromosome 1 open reading frame 196

C1ORF195 Gene

chromosome 1 open reading frame 195

C1ORF194 Gene

chromosome 1 open reading frame 194

CXORF65 Gene

chromosome X open reading frame 65

CXORF67 Gene

chromosome X open reading frame 67

CXORF66 Gene

chromosome X open reading frame 66

The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009]

C8ORF48 Gene

chromosome 8 open reading frame 48

C8ORF46 Gene

chromosome 8 open reading frame 46

C8ORF44 Gene

chromosome 8 open reading frame 44

C10ORF113 Gene

chromosome 10 open reading frame 113

C10ORF111 Gene

chromosome 10 open reading frame 111

C1ORF226 Gene

chromosome 1 open reading frame 226

C1ORF228 Gene

chromosome 1 open reading frame 228

LOC100505524 Gene

chromosome 5 open reading frame 63 pseudogene

LOC729141 Gene

chromosome 18 open reading frame 25 pseudogene

C9ORF3 Gene

chromosome 9 open reading frame 3

This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

C9ORF9 Gene

chromosome 9 open reading frame 9

C17ORF59 Gene

chromosome 17 open reading frame 59

C17ORF58 Gene

chromosome 17 open reading frame 58

C17ORF51 Gene

chromosome 17 open reading frame 51

C17ORF50 Gene

chromosome 17 open reading frame 50

C17ORF53 Gene

chromosome 17 open reading frame 53

C11ORF58 Gene

chromosome 11 open reading frame 58

C11ORF53 Gene

chromosome 11 open reading frame 53

C11ORF52 Gene

chromosome 11 open reading frame 52

C11ORF57 Gene

chromosome 11 open reading frame 57

C11ORF54 Gene

chromosome 11 open reading frame 54

WBSCR22 Gene

Williams Beuren syndrome chromosome region 22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

C10ORF35 Gene

chromosome 10 open reading frame 35

C10ORF32 Gene

chromosome 10 open reading frame 32

C1ORF132 Gene

chromosome 1 open reading frame 132

DUP3Q29 Gene

chromosome 3q29 microduplication syndrome

C9ORF129 Gene

chromosome 9 open reading frame 129

DUPXP11.23P11.22 Gene

Chromosome Xp11.23-p11.22 duplication syndrome

C20ORF187 Gene

chromosome 20 open reading frame 187

C20ORF181 Gene

chromosome 20 open reading frame 181

C5ORF66 Gene

chromosome 5 open reading frame 66

C5ORF67 Gene

chromosome 5 open reading frame 67

C5ORF64 Gene

chromosome 5 open reading frame 64

C5ORF63 Gene

chromosome 5 open reading frame 63

C5ORF60 Gene

chromosome 5 open reading frame 60

LOC728024 Gene

chromosome X open reading frame 56 pseudogene

C1ORF112 Gene

chromosome 1 open reading frame 112

C1ORF111 Gene

chromosome 1 open reading frame 111

C1ORF110 Gene

chromosome 1 open reading frame 110

C1ORF116 Gene

chromosome 1 open reading frame 116

C1ORF115 Gene

chromosome 1 open reading frame 115

C4ORF47 Gene

chromosome 4 open reading frame 47

C4ORF46 Gene

chromosome 4 open reading frame 46

This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

C4ORF45 Gene

chromosome 4 open reading frame 45

C4ORF48 Gene

chromosome 4 open reading frame 48

C3ORF58 Gene

chromosome 3 open reading frame 58

C3ORF52 Gene

chromosome 3 open reading frame 52

C3ORF56 Gene

chromosome 3 open reading frame 56

RCBTB2 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RCBTB1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

DUP18PDEL18Q Gene

Chromosome 18 pericentric inversion

LOC441320 Gene

chromosome 11 open reading frame2 pseudogene

DEL18P Gene

Chromosome 18p deletion syndrome

DEL18Q Gene

Chromosome 18q deletion syndrome

C9ORF24 Gene

chromosome 9 open reading frame 24

This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

CECR Gene

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

LOC100420928 Gene

chromosome 15 open reading frame 43 pseudogene

C14ORF2 Gene

chromosome 14 open reading frame 2

C11ORF39 Gene

chromosome 11 open reading frame 39

C14ORF1 Gene

chromosome 14 open reading frame 1

C11ORF30 Gene

chromosome 11 open reading frame 30

SCZD11 Gene

Schizophrenia susceptibility locus, chromosome 10q-related

C20ORF27 Gene

chromosome 20 open reading frame 27

C20ORF24 Gene

chromosome 20 open reading frame 24

CHAMP1 Gene

chromosome alignment maintaining phosphoprotein 1

C14ORF132 Gene

chromosome 14 open reading frame 132

LOC100526841 Gene

chromosome 18 open reading frame 32 pseudogene

LOC441750 Gene

chromosome 12 open reading frame 49 pseudogene

CPXCR1 Gene

CPX chromosome region, candidate 1

This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

C7ORF77 Gene

chromosome 7 open reading frame 77

C7ORF76 Gene

chromosome 7 open reading frame 76

C1ORF53 Gene

chromosome 1 open reading frame 53

C1ORF52 Gene

chromosome 1 open reading frame 52

C1ORF50 Gene

chromosome 1 open reading frame 50

C1ORF56 Gene

chromosome 1 open reading frame 56

C1ORF54 Gene

chromosome 1 open reading frame 54

C18ORF21 Gene

chromosome 18 open reading frame 21

C18ORF25 Gene

chromosome 18 open reading frame 25

HBFQTL4 Gene

Fetal hemoglobin QTL on chromosome 8

DEL15Q24 Gene

Chromosome 15q24 deletion syndrome

LOC390314 Gene

chromosome 20 open reading frame 27 pseudogene

C16DELQ22 Gene

Chromosome 16q22 deletion syndrome

C7ORF25 Gene

chromosome 7 open reading frame 25

C7ORF26 Gene

chromosome 7 open reading frame 26

LOC100129168 Gene

chromosome 6 open reading frame 203 pseudogene

C6ORF62 Gene

chromosome 6 open reading frame 62

DEL15Q13.3 Gene

Chromosome 15q13.3 microdeletion syndrome

C12ORF29 Gene

chromosome 12 open reading frame 29

DEL5Q12 Gene

Chromosome 5q12 deletion sydrome

C19ORF70 Gene

chromosome 19 open reading frame 70

C19ORF73 Gene

chromosome 19 open reading frame 73

CXORF40A Gene

chromosome X open reading frame 40A

CXORF40B Gene

chromosome X open reading frame 40B

DUP1Q21 Gene

Chromosome 1q21.1 duplication syndrome

C2ORF50 Gene

chromosome 2 open reading frame 50

C2ORF57 Gene

chromosome 2 open reading frame 57

C2ORF54 Gene

chromosome 2 open reading frame 54

LOC645086 Gene

chromosome 11 open reading frame 58 pseudogene

WBSCR2 Gene

Williams-Beuren syndrome chromosome region 2

C14ORF177 Gene

chromosome 14 open reading frame 177

C14ORF178 Gene

chromosome 14 open reading frame 178

C16ORF95 Gene

chromosome 16 open reading frame 95

LOC100129254 Gene

chromosome 3 open reading frame 38 pseudogene

C2ORF27AP2 Gene

chromosome 2 open reading frame 27A pseudogene 2

C2ORF27AP3 Gene

chromosome 2 open reading frame 27A pseudogene 3

C2ORF27AP1 Gene

chromosome 2 open reading frame 27A pseudogene 1

XIC Gene

X chromosome inactivation center

C1ORF210 Gene

chromosome 1 open reading frame 210

C1ORF216 Gene

chromosome 1 open reading frame 216

C17ORF62 Gene

chromosome 17 open reading frame 62

C17ORF64 Gene

chromosome 17 open reading frame 64

C17ORF67 Gene

chromosome 17 open reading frame 67

C18ORF8 Gene

chromosome 18 open reading frame 8

This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

LOC646970 Gene

chromosome 5 open reading frame 15 pseudogene

LOC100132762 Gene

chromosome 17 open reading frame 80 pseudogene

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

C5ORF58 Gene

chromosome 5 open reading frame 58

C5ORF56 Gene

chromosome 5 open reading frame 56

C5ORF52 Gene

chromosome 5 open reading frame 52

C5ORF51 Gene

chromosome 5 open reading frame 51

C1ORF86 Gene

chromosome 1 open reading frame 86

C1ORF87 Gene

chromosome 1 open reading frame 87

CXORF36 Gene

chromosome X open reading frame 36

C8ORF17 Gene

chromosome 8 open reading frame 17

C4ORF19 Gene

chromosome 4 open reading frame 19

C4ORF17 Gene

chromosome 4 open reading frame 17

C3ORF84 Gene

chromosome 3 open reading frame 84

CXORF38 Gene

chromosome X open reading frame 38

LOC100129989 Gene

chromosome 12 open reading frame 29 pseudogene

C9ORF16 Gene

chromosome 9 open reading frame 16

LOC100420859 Gene

chromosome 2 open reading frame 69 pseudogene

C16ORF62 Gene

chromosome 16 open reading frame 62

C20ORF78 Gene

chromosome 20 open reading frame 78

C3ORF80 Gene

chromosome 3 open reading frame 80

DEL1P36 Gene

Chromosome 1p36 deletion syndrome

C11ORF24 Gene

chromosome 11 open reading frame 24

LOC100130455 Gene

chromosome 20 open reading frame 196 pseudogene

C10ORF67 Gene

chromosome 10 open reading frame 67

C10ORF62 Gene

chromosome 10 open reading frame 62

C6ORF229 Gene

chromosome 6 open reading frame 229

C6ORF222 Gene

chromosome 6 open reading frame 222

C6ORF223 Gene

chromosome 6 open reading frame 223

C6ORF226 Gene

chromosome 6 open reading frame 226

C9ORF171 Gene

chromosome 9 open reading frame 171

C9ORF170 Gene

chromosome 9 open reading frame 170

C1ORF162 Gene

chromosome 1 open reading frame 162

C1ORF167 Gene

chromosome 1 open reading frame 167

GTSCR1 Gene

Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding)

C1ORF168 Gene

chromosome 1 open reading frame 168

LOC100526840 Gene

chromosome 18 open reading frame 32 pseudogene

C2ORF83 Gene

chromosome 2 open reading frame 83

C18ORF12 Gene

chromosome 18 open reading frame 12

LOC389705 Gene

chromosome 4 open reading frame 27 pseudogene

DEL7Q11.23 Gene

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

C9ORF91 Gene

chromosome 9 open reading frame 91

LOC100289196 Gene

chromosome 7 open reading frame 73 pseudogene

C12ORF57 Gene

chromosome 12 open reading frame 57

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C12ORF54 Gene

chromosome 12 open reading frame 54

DUP17Q21.31 Gene

Chromosome 17q21.31 duplication syndrome

C19ORF40 Gene

chromosome 19 open reading frame 40

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

C19ORF43 Gene

chromosome 19 open reading frame 43

C19ORF45 Gene

chromosome 19 open reading frame 45

C19ORF47 Gene

chromosome 19 open reading frame 47

C19ORF48 Gene

chromosome 19 open reading frame 48

C6ORF118 Gene

chromosome 6 open reading frame 118

C2ORF61 Gene

chromosome 2 open reading frame 61

C2ORF69 Gene

chromosome 2 open reading frame 69

C2ORF68 Gene

chromosome 2 open reading frame 68

LOC100128808 Gene

chromosome 11 open reading frame 51 pseudogene

LOC100420925 Gene

chromosome 2 open reading frame 27A pseudogene

C7ORF55 Gene

chromosome 7 open reading frame 55

C7ORF57 Gene

chromosome 7 open reading frame 57

C7ORF50 Gene

chromosome 7 open reading frame 50

C14ORF142 Gene

chromosome 14 open reading frame 142

C14ORF144 Gene

chromosome 14 open reading frame 144

DEL19Q13.11 Gene

Chromosome 19q13.11 deletion syndrome

LOC100288558 Gene

chromosome 4 open reading frame 46 pseudogene

LOC100420770 Gene

chromosome 12 open reading frame 10 pseudogene

LOC100420779 Gene

chromosome 16 open reading frame 70 pseudogene

LOC100420778 Gene

chromosome 2 open reading frame 27A pseudogene

C14ORF80 Gene

chromosome 14 open reading frame 80

C15ORF48 Gene

chromosome 15 open reading frame 48

This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]

C15ORF40 Gene

chromosome 15 open reading frame 40

C15ORF43 Gene

chromosome 15 open reading frame 43

C21ORF91 Gene

chromosome 21 open reading frame 91

DEL10Q26 Gene

Chromosome 10q deletion syndrome

WBSCR16 Gene

Williams-Beuren syndrome chromosome region 16

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

C8ORF60 Gene

chromosome 8 open reading frame 60

LOC100287212 Gene

chromosome 4 open reading frame 3 pseudogene

C4ORF50 Gene

chromosome 4 open reading frame 50

C10ORF131 Gene

chromosome 10 open reading frame 131

OTDD Gene

Otodental dysplasia chromosome deletion syndrome

DEL17Q11.2 Gene

chromosome 17q11.2 deletion syndrome

LOC100125409 Gene

chromosome 4 open reading frame 27 pseudogene

LOC399815 Gene

chromosome 10 open reading frame 88 pseudogene

C15ORF62 Gene

chromosome 15 open reading frame 62

AMLCR2 Gene

acute myeloid leukemia chromosome region 2

C16ORF13 Gene

chromosome 16 open reading frame 13

DUP8Q22.1 Gene

Leri pleonosteosis chromosome duplication syndrome

C11ORF21 Gene

chromosome 11 open reading frame 21

C4ORF3 Gene

chromosome 4 open reading frame 3

C11ORF71 Gene

chromosome 11 open reading frame 71

C11ORF70 Gene

chromosome 11 open reading frame 70

C11ORF73 Gene

chromosome 11 open reading frame 73

C11ORF74 Gene

chromosome 11 open reading frame 74

This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

HDLCQ2 Gene

High density lipoprotein cholesterol level QTL on chromosome 8

C10ORF54 Gene

chromosome 10 open reading frame 54

C10ORF53 Gene

chromosome 10 open reading frame 53

DEL4Q21 Gene

Chromosome 4q21 deletion syndrome

DUP22Q13 Gene

Chromosome 22q13 duplication syndrome

GCY Gene

growth control, Y chromosome influenced

C9ORF147 Gene

chromosome 9 open reading frame 147

C9ORF142 Gene

chromosome 9 open reading frame 142

C1ORF131 Gene

chromosome 1 open reading frame 131

C1ORF134 Gene

chromosome 1 open reading frame 134

C1ORF137 Gene

chromosome 1 open reading frame 137

LOC100420789 Gene

chromosome 2 open reading frame 27A pseudogene

C3ORF33 Gene

chromosome 3 open reading frame 33

C3ORF30 Gene

chromosome 3 open reading frame 30

C3ORF36 Gene

chromosome 3 open reading frame 36

C3ORF35 Gene

chromosome 3 open reading frame 35

C3ORF38 Gene

chromosome 3 open reading frame 38

LOC644462 Gene

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2 pseudogene

LOC389473 Gene

chromosome 5 open reading frame 13 pseudogene

C20ORF203 Gene

chromosome 20 open reading frame 203

C20ORF202 Gene

chromosome 20 open reading frame 202

C9ORF40 Gene

chromosome 9 open reading frame 40

C9ORF41 Gene

chromosome 9 open reading frame 41

C9ORF43 Gene

chromosome 9 open reading frame 43

C9ORF47 Gene

chromosome 9 open reading frame 47

C16ORF96 Gene

chromosome 16 open reading frame 96

C16ORF97 Gene

chromosome 16 open reading frame 97

C16ORF92 Gene

chromosome 16 open reading frame 92

C16ORF93 Gene

chromosome 16 open reading frame 93

C16ORF90 Gene

chromosome 16 open reading frame 90

C16ORF91 Gene

chromosome 16 open reading frame 91

LOC729930 Gene

chromosome 11 open reading frame 74 pseudogene

DEL17P13.1 Gene

Chromosome 17p13.1 deletion syndrome

C12ORF80 Gene

chromosome 12 open reading frame 80

DEL11P15P14 Gene

Chromosome 11p15-p14 deletion syndrome

C6ORF141 Gene

chromosome 6 open reading frame 141

DEL1Q21 Gene

Chromosome 1q21.1 deletion syndrome

C1ORF74 Gene

chromosome 1 open reading frame 74

C2ORF72 Gene

chromosome 2 open reading frame 72

C18ORF42 Gene

chromosome 18 open reading frame 42

C9ORF78 Gene

chromosome 9 open reading frame 78

NHP2L1 Gene

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

Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

C1ORF220 Gene

chromosome 1 open reading frame 220

C1ORF229 Gene

chromosome 1 open reading frame 229

C9ORF173 Gene

chromosome 9 open reading frame 173

C6ORF48 Gene

chromosome 6 open reading frame 48

C6ORF47 Gene

chromosome 6 open reading frame 47