AIP Chromosome 11
AHR interacting HSP90 co-chaperone
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What This Gene Does
The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"FKBP prolyl isomerase family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000110711
Associated Conditions (17)
Hereditary cancer-predisposing syndrome
Somatotroph adenoma
Pituitary dependent hypercortisolism
Dopamine agonists response
AIP-related disorder
Acroleukopathy
symmetric
Familial isolated pituitary adenoma
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Sarcoma
Gastric cancer
Malignant tumor of esophagus
Pituitary adenoma 5
multiple types
Pituitary adenoma predisposition
Key Variants
RS1006697477
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Somatotroph adenoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1009569366
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS104894190
Conflicting classifications of pathogenicity
Pituitary dependent hypercortisolism, Somatotroph adenoma, Hereditary cancer-predisposing syndrome
Health Risk
RS104895072
Conflicting classifications of pathogenicity
Somatotroph adenoma, Hereditary cancer-predisposing syndrome, Somatotroph adenoma
Health Risk
RS1063385
Conflicting classifications of pathogenicity
Somatotroph adenoma, Hereditary cancer-predisposing syndrome, AIP-related disorder
Health Risk
RS116940576
Conflicting classifications of pathogenicity
Somatotroph adenoma, Hereditary cancer-predisposing syndrome, AIP-related disorder
Health Risk
RS1202522544
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1266489288
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1293512916
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Somatotroph adenoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1323279729
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS138902236
Conflicting classifications of pathogenicity
Somatotroph adenoma, Hereditary cancer-predisposing syndrome, AIP-related disorder
Health Risk
RS139407567
Conflicting classifications of pathogenicity
Somatotroph adenoma, Hereditary cancer-predisposing syndrome, AIP-related disorder
Health Risk
All Variants (109)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267606576 | Health Risk | Pathogenic | Somatotroph adenoma, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS267606578 | Health Risk | Pathogenic | Somatotroph adenoma, Hereditary cancer-predisposing syndrome, Somatotroph adenoma |
| RS267606580 | Health Risk | Pathogenic | Somatotroph adenoma, Somatotroph adenoma |
| RS750938556 | Health Risk | Pathogenic | — |
| RS925348950 | Health Risk | Pathogenic | — |
| RS969013352 | Health Risk | Pathogenic | — |
| RS987431392 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2495405147 | Health Risk | Pathogenic/Likely pathogenic | Somatotroph adenoma, Somatotroph adenoma |
| RS267606579 | Health Risk | Pathogenic/Likely pathogenic | Somatotroph adenoma, Hereditary cancer-predisposing syndrome, Familial isolated pituitary adenoma |