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Tbio Protein C8orf37

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]

 Comments

Property Summary

NCBI Gene PubMed Count 14
PubMed Score 119.37
PubTator Score 13.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (9)

Disease Z-score Confidence
cone-rod dystrophy 56 5.283 2.6
Hematocele of tunica vaginalis testis 3 4.962 2.5
Retinitis pigmentosa 153 4.251 2.1
Polydactyly 93 4.182 2.1
Fundus dystrophy 77 4.093 2.0
Bardet-Biedl Syndrome 40 3.532 1.8
CONE-ROD DYSTROPHY 16 1
lung carcinoma 2,844
posterior fossa group B ependymoma 1,530

Expression

  Differential Expression (2)

Disease log2 FC p
posterior fossa group B ependymoma 2.300 0.000
lung carcinoma 1.300 0.000

Synonym

Accession Q96NL8 F4Y588
Symbols RP64
BBS21
CORD16
smalltalk

Gene

C8orf37

 GO Component (4)

 Compartment GO Term (17)

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 UniProt Keyword (6)

Gene RIF (5)

PMID Text
25802487 Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin.
25113443 Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia.
23788369 Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy.
22177090 In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence 

MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEI      1 - 70
LEEPNLDKKPSKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVV     71 - 140
SYDDYMWDKSCDYLFFRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH       141 - 207
//

Text Mined References (13)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
27008867 2016 Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
26865426 2016 A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
26854863 2016 C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
25802487 2015 Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
25113443 2016 Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
23788369 2013 Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22177090 2012 Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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