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 re... See more...

Aliases for C8orf37 Gene

Aliases for C8orf37 Gene

  • Chromosome 8 Open Reading Frame 37 2 3 5
  • Bardet-Biedl Syndrome 21 2 3
  • Protein C8orf37 3 4
  • Smalltalk 3 4
  • CORD16 2 3
  • FAP418 2 3
  • BBS21 2 3
  • MOT25 2 3
  • RP64 2 3
  • Cone-Rod Dystrophy 16 2
  • FLJ30600 2
  • C8orf37 5

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 Bardet-Biedl Syndrome 21.

UniProtKB/Swiss-Prot Summary for C8orf37 Gene

  • May be involved in photoreceptor outer segment disk morphogenesis (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C8orf37 Gene

Genomics for C8orf37 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C8orf37 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8orf37 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C8orf37

Top Transcription factor binding sites by QIAGEN in the C8orf37 gene promoter:
  • C/EBPbeta
  • CUTL1
  • E2F
  • E2F-1
  • FOXC1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-3beta
  • Zic1

Genomic Locations for C8orf37 Gene

Genomic Locations for C8orf37 Gene
chr8:95,244,913-95,269,201
(GRCh38/hg38)
Size:
24,289 bases
Orientation:
Minus strand
chr8:96,257,141-96,281,462
(GRCh37/hg19)
Size:
24,322 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
    Secondary Accessions:
    • F4Y588

    Protein attributes for C8orf37 Gene

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

neXtProt entry for C8orf37 Gene

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

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for C8orf37 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C8orf37 Gene

GenScript: Design optimal peptide antigens:
  • Smalltalk (F4Y588_HUMAN)
genes like me logo Genes that share domains with C8orf37: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C8orf37 Gene

Function for C8orf37 Gene

Molecular function for C8orf37 Gene

UniProtKB/Swiss-Prot Function:
May be involved in photoreceptor outer segment disk morphogenesis (By similarity).

Phenotypes From GWAS Catalog for C8orf37 Gene

Gene Ontology (GO) - Molecular Function for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
genes like me logo Genes that share ontologies with C8orf37: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf37

No data available for Enzyme Numbers (IUBMB) , 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. Photoreceptor inner segment. Note=In the retina, located at the base of the primary cilium (PubMed:22177090). Expressed throughout photoreceptors cell body including the basal body, inner segment and synaptic terminus, but not in the outer segment. {ECO:0000250 UniProtKB:Q3UJP5, ECO:0000269 PubMed:22177090}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C8orf37 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
extracellular 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005737 cytoplasm IEA,IDA 22177090
GO:0005829 cytosol IBA,IDA --
GO:0005886 plasma membrane IDA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with C8orf37: view

Pathways & Interactions for C8orf37 Gene

PathCards logo

SuperPathways for C8orf37 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008594 photoreceptor cell morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with C8orf37: view

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 :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf37

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

No ASD Table

Relevant External Links for C8orf37 Gene

GeneLoc Exon Structure for
C8orf37

Expression for C8orf37 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for C8orf37 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C8orf37

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).

Evidence on tissue expression from TISSUES for C8orf37 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C8orf37 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with C8orf37: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 C8orf37 31
  • 100 (a)
OneToOne
C8H8orf37 30
  • 99.52 (n)
Cow
(Bos Taurus)
Mammalia C14H8orf37 30
  • 87.92 (n)
C8orf37 31
  • 81 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 2610301B20Rik 30 17 31
  • 85.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia MGC94199 30
  • 85.35 (n)
Dog
(Canis familiaris)
Mammalia C29H8orf37 30
  • 82.82 (n)
C8orf37 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia C8orf37 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C2H8ORF37 30
  • 67.2 (n)
C8orf37 31
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C8orf37 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489713 30
  • 57.48 (n)
Str.6865 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100534958 30
  • 52 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Species where no ortholog for C8orf37 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C8orf37 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
684431 Likely Pathogenic: Bardet-Biedl syndrome 21 95,263,689(-) AG/A FRAMESHIFT_VARIANT
684432 Likely Pathogenic: Bardet-Biedl syndrome 21 95,269,060(-) G/A NONSENSE
725033 Likely Benign: not provided 95,252,266(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
788871 Conflicting Interpretations: Retinitis pigmentosa; Cone-rod dystrophy 16; not provided 95,269,027(-) C/T INTRON_VARIANT
802425 Uncertain Significance: Cone-rod dystrophy 16 95,269,096(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for C8orf37 Gene

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

Variant ID Type Subtype PubMed ID
nsv1023866 CNV gain 25217958
nsv480322 CNV novel sequence insertion 20440878
nsv525440 CNV loss 19592680
nsv6315 CNV deletion 18451855
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)

Additional Variant Information for C8orf37 Gene

Human Gene Mutation Database (HGMD)
C8orf37
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8orf37

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

Disorders for C8orf37 Gene

MalaCards: The human disease database

(20) MalaCards diseases for C8orf37 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 16
  • cord16
bardet-biedl syndrome 21
  • bbs21
retinitis pigmentosa
  • retinitis pigmentosa 1
bardet-biedl syndrome
  • biedl-bardet syndrome
cone-rod dystrophy 2
  • cord2
- 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {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.
  • Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:26854863, ECO:0000269 PubMed:27008867}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C8orf37

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

No data available for Genatlas for C8orf37 Gene

Publications for C8orf37 Gene

  1. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. (PMID: 26854863) Khan AO … Bergmann C (Ophthalmic genetics 2016) 2 3 4
  2. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. (PMID: 22177090) Estrada-Cuzcano A … Cremers FP (American journal of human genetics 2012) 2 3 4
  3. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). (PMID: 27008867) Heon E … Sheffield VC (Human molecular genetics 2016) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for C8orf37 Gene

Sources for C8orf37 Gene