ARID4A Chromosome 14
AT-rich interaction domain 4A
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What This Gene Does
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
AT-rich interaction domain containing
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000032219
Associated Conditions (23)
Colorectal cancer
Gastric cancer
Acute myeloid leukemia
Malignant tumor of esophagus
Lymphoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Thymoma
Thyroid cancer
nonmedullary
1
Colon adenocarcinoma
Sarcoma
Melanoma
Hepatocellular carcinoma
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Uveal melanoma
Nonpapillary renal cell carcinoma
Lung cancer
+3 more conditions
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS62621193 | Health Risk | Conflicting classifications of pathogenicity | Colorectal cancer, Gastric cancer, Acute myeloid leukemia |
| RS1594966387 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |