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Aliases for C8orf37 Gene

Aliases for C8orf37 Gene

  • Chromosome 8 Open Reading Frame 37 2 3 5
  • Smalltalk 3
  • CORD16 3
  • BBS21 3
  • RP64 3

External Ids for C8orf37 Gene

Previous GeneCards Identifiers for C8orf37 Gene

  • GC08M096327
  • GC08M091465
  • GC08M096257

Summaries for C8orf37 Gene

Entrez Gene Summary for C8orf37 Gene

  • 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]

GeneCards Summary for C8orf37 Gene

C8orf37 (Chromosome 8 Open Reading Frame 37) is a Protein Coding gene. Diseases associated with C8orf37 include cone-rod dystrophy 16 and c8orf37-related retinitis pigmentosa.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8orf37 Gene

Genomics for C8orf37 Gene

Regulatory Elements for C8orf37 Gene

Promoters for C8orf37 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C8orf37 on UCSC Golden Path with GeneCards custom track

Genomic Location for C8orf37 Gene

Chromosome:
8
Start:
95,244,913 bp from pter
End:
95,270,337 bp from pter
Size:
25,425 bases
Orientation:
Minus strand

Genomic View for C8orf37 Gene

Genes around C8orf37 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8orf37 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8orf37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8orf37 Gene

Proteins for C8orf37 Gene

  • Protein details for C8orf37 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NL8-CH037_HUMAN
    Recommended name:
    Protein C8orf37
    Protein Accession:
    Q96NL8

    Protein attributes for C8orf37 Gene

    Size:
    207 amino acids
    Molecular mass:
    23381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C8orf37 Gene

Proteomics data for C8orf37 Gene at MOPED

Post-translational modifications for C8orf37 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C8orf37 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C8orf37 Gene

Domains & Families for C8orf37 Gene

Gene Families for C8orf37 Gene

Protein Domains for C8orf37 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C8orf37 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C8orf37: view

No data available for UniProtKB/Swiss-Prot for C8orf37 Gene

Function for C8orf37 Gene

genes like me logo Genes that share phenotypes with C8orf37: view

Human Phenotype Ontology for C8orf37 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for C8orf37 Gene

miRTarBase miRNAs that target C8orf37

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C8orf37 Gene

Localization for C8orf37 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8orf37 Gene

Cytoplasm. Note=In the retina, located at the base of the primary cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C8orf37 Gene COMPARTMENTS Subcellular localization image for C8orf37 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3
extracellular 2

Gene Ontology (GO) - Cellular Components for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with C8orf37: view

Pathways & Interactions for C8orf37 Gene

SuperPathways for C8orf37 Gene

No Data Available

Interacting Proteins for C8orf37 Gene

Gene Ontology (GO) - Biological Process for C8orf37 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C8orf37 Gene

Drugs & Compounds for C8orf37 Gene

No Compound Related Data Available

Transcripts for C8orf37 Gene

mRNA/cDNA for C8orf37 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C8orf37 Gene

Chromosome 8 open reading frame 37:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C8orf37 Gene

No ASD Table

Relevant External Links for C8orf37 Gene

GeneLoc Exon Structure for
C8orf37
ECgene alternative splicing isoforms for
C8orf37

Expression for C8orf37 Gene

mRNA expression in normal human tissues for C8orf37 Gene

Protein differential expression in normal tissues from HIPED for C8orf37 Gene

This gene is overexpressed in Blymphocyte (23.5), Spinal cord (11.3), Fetal Brain (10.2), Retina (9.8), and Testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C8orf37 Gene



SOURCE GeneReport for Unigene cluster for C8orf37 Gene Hs.548157

mRNA Expression by UniProt/SwissProt for C8orf37 Gene

Q96NL8-CH037_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).
genes like me logo Genes that share expression patterns with C8orf37: view

Protein tissue co-expression partners for C8orf37 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for C8orf37 Gene

Orthologs for C8orf37 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8orf37 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8H8orf37 35
  • 99.52 (n)
  • 99.52 (a)
C8orf37 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8orf37 36
  • 81 (a)
OneToOne
C14H8orf37 35
  • 87.92 (n)
  • 81.64 (a)
dog
(Canis familiaris)
Mammalia C29H8orf37 35
  • 82.82 (n)
  • 78.88 (a)
C8orf37 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2610301B20Rik 16
2610301B20Rik 36
  • 78 (a)
OneToOne
2610301B20Rik 35
  • 85.35 (n)
  • 78.26 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia C8orf37 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia MGC94199 35
  • 85.35 (n)
  • 79.71 (a)
chicken
(Gallus gallus)
Aves C2H8ORF37 35
  • 67.2 (n)
  • 58.73 (a)
C8orf37 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8orf37 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489713 35
  • 57.48 (n)
  • 52.04 (a)
Str.6865 35
zebrafish
(Danio rerio)
Actinopterygii LOC100534958 35
  • 52 (n)
  • 45.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for C8orf37:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C8orf37 Gene

ENSEMBL:
Gene Tree for C8orf37 (if available)
TreeFam:
Gene Tree for C8orf37 (if available)

Paralogs for C8orf37 Gene

No data available for Paralogs for C8orf37 Gene

Variants for C8orf37 Gene

Sequence variations from dbSNP and Humsavar for C8orf37 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_033683 -
VAR_067305 Cone-rod dystrophy 16 (CORD16)
VAR_067306 Retinitis pigmentosa 64 (RP64)
rs2514554 -- 95,244,638(+) ACACA(C/T)CAGAG downstream-variant-500B
rs2514555 -- 95,244,769(+) TCCCA(A/G)CACTT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for C8orf37 Gene

Variant ID Type Subtype PubMed ID
nsv6315 CNV Loss 18451855
nsv525440 CNV Loss 19592680
nsv819165 CNV Loss 19587683

Variation tolerance for C8orf37 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C8orf37 Gene

HapMap Linkage Disequilibrium report
C8orf37
Human Gene Mutation Database (HGMD)
C8orf37

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8orf37 Gene

Disorders for C8orf37 Gene

MalaCards: The human disease database

(7) MalaCards diseases for C8orf37 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 16
  • retinitis pigmentosa 64
c8orf37-related retinitis pigmentosa
  • retinitis pigmentosa 64
retinitis pigmentosa
  • retinitis pigmentosa 1
immunodeficiency 13
  • icl
cone-rod dystrophy
  • cone-rod dystrophy 5
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CH037_HUMAN
  • Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 64 (RP64) [MIM:614500]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C8orf37

Genetic Association Database (GAD)
C8orf37
Human Genome Epidemiology (HuGE) Navigator
C8orf37
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C8orf37
genes like me logo Genes that share disorders with C8orf37: view

No data available for Genatlas for C8orf37 Gene

Publications for C8orf37 Gene

  1. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. (PMID: 22177090) Estrada-Cuzcano A. … Cremers F.P. (Am. J. Hum. Genet. 2012) 2 3 4 67
  2. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. (PMID: 25802487) Ravesh Z. … Ali M. (Mol. Vis. 2015) 3
  3. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. (PMID: 25113443) Katagiri S. … Iwata T. (Ophthalmic Genet. 2014) 3
  4. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene. (PMID: 23788369) van Huet R.A. … Klevering B.J. (Invest. Ophthalmol. Vis. Sci. 2013) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for C8orf37 Gene

Sources for C8orf37 Gene

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