Entity Details

Primary name C12orf4
Entity type gene
Source Source Link

Details

PrimaryID57102
RefseqGeneNG_051648
SymbolC12orf4
Namechromosome 12 open reading frame 4
Chromosome12
Location12p13.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-10-11
ModificationDate2021-06-12

Ontological Relatives

UniProt IDsCL004_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0043304 regulation of mast cell degranulation

Diseases

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Disease IDSourceNameDescription
618221 OMIMMental retardation, autosomal recessive 66 (MRT66)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT66 patients have intellectual disability, delayed speech development, neuropsychiatric symptoms, and relatively normal life span. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions