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Aliases for C8orf37 Gene

Aliases for C8orf37 Gene

  • Chromosome 8 Open Reading Frame 37 2 3
  • CORD16 3 6
  • RP64 3 6
  • Protein C8orf37 3
  • Smalltalk 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C8orf37 Gene

Start:
95,244,913 bp from pter
End:
95,269,479 bp from pter
Size:
24,567 bases
Orientation:
Minus strand

Genomic View for C8orf37 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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 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 Gene Families and UniProtKB/Swiss-Prot for C8orf37 Gene

Function for C8orf37 Gene

Phenotypes for C8orf37 Gene

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

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 3
cytosol 2
extracellular 2
cytoskeleton 1
plasma membrane 1

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 --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with C8orf37: view

Pathways 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 for C8orf37 Gene

Transcripts for C8orf37 Gene

mRNA/cDNA for C8orf37 Gene

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

Unigene Clusters for C8orf37 Gene

Chromosome 8 open reading frame 37:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C8orf37

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for C8orf37

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with C8orf37: view

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 C14H8orf37 35
  • 87.92 (n)
  • 81.64 (a)
C8orf37 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C29H8orf37 35
  • 82.82 (n)
  • 78.88 (a)
C8orf37 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2610301B20Rik 35
  • 85.35 (n)
  • 78.26 (a)
2610301B20Rik 16
2610301B20Rik 36
  • 78 (a)
OneToOne
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 MAF
rs1048179 -- 95,245,183(-) TCAGT(A/G)TAGAA utr-variant-3-prime
rs1441397 -- 95,255,528(+) ATGTT(C/T)CCTTT intron-variant
rs1530257 -- 95,249,542(-) tcgag(C/T)agcta intron-variant
rs2055056 -- 95,265,842(+) AGGAC(C/T)GTATA intron-variant
rs2165498 -- 95,251,681(-) AAGGA(C/T)ATGtt intron-variant

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

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

(1) OMIM Diseases for C8orf37 Gene (614477)

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.

(1) University of Copenhagen DISEASES for C8orf37 Gene

Relevant External Links for C8orf37

Genetic Association Database (GAD)
C8orf37
Human Genome Epidemiology (HuGE) Navigator
C8orf37
genes like me logo Genes that share disorders with C8orf37: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Retinitis Pigmentosa Overview (PMID: 20301590) Pagon R.A. … Stephens K. ( 1993) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for C8orf37 Gene

Sources for C8orf37 Gene

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