C12orf4
Summary: This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| chromosome 12 open reading frame 4 | MIM:616082 | Ensembl:ENSG00000047621 | HGNC:HGNC:1184 | PA25505 | 12p13.32 |
GO terms in C12orf4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005737 | cytoplasm |
| BP | ISS | GO:0043304 | regulation of mast cell degranulation |
Gene expression in normal tissue: C12orf4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C12orf4
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C12orf4
CLASSFICATION
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