• Gene id: 157657

Gene Summary

• Gene Symbol: C8orf37   Gene   UCSC   Ensembl
• Aliases: BBS21, CORD16, FAP418, MOT25, RP64, smalltalk
• Gene name: chromosome 8 open reading frame 37
• Alternate names: protein C8orf37, Bardet-Biedl syndrome 21,
• Gene location: 8q22.1 (95269200: 95244912)     Exons: 6     NC_000008.11
• Gene summary(Entrez): 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 pig
• OMIM: 604050

Protein Summary

• Protein general information: Q96NL8  
  • Name: Protein C8orf37
  • Length: 207  
  • Mass: 23381
  • Tissue specificity: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level). {ECO
• Sequence:

  MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPN
  LDKKPSKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKS
  CDYLFFRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH

• Structural information:
  • Interpro: IPR029239  
  • STRING: ENSP00000286688
• Other Databases: GeneCards:  C8orf37  Malacards:  C8orf37

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0008594	photoreceptor cell morphogenesis	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097546	ciliary base	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008594	photoreceptor cell morphogenesis	ISS	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Bardet-Biedl syndrome	KEGG:H00418
Retinitis pigmentosa	KEGG:H00527
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Bardet-Biedl syndrome	KEGG:H00418
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881