NR1H4 Chromosome 12
Nuclear receptor subfamily 1 group H member 4
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What This Gene Does
This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Nuclear receptor subfamily 1 group H
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000012504
Associated Conditions (5)
NR1H4-related disorder
Cholestasis
progressive familial intrahepatic
5
Progressive familial intrahepatic cholestasis type 1
Key Variants
RS1322754256
Conflicting classifications of pathogenicity
Health Risk
RS137946171
Conflicting classifications of pathogenicity
Health Risk
RS140648896
Conflicting classifications of pathogenicity
Health Risk
RS147030757
Conflicting classifications of pathogenicity
Health Risk
RS368975126
Conflicting classifications of pathogenicity
Health Risk
RS372358310
Conflicting classifications of pathogenicity
NR1H4-related disorder, NR1H4-related disorder
Health Risk
RS373472692
Conflicting classifications of pathogenicity
NR1H4-related disorder, NR1H4-related disorder
Health Risk
RS574925287
Conflicting classifications of pathogenicity
Health Risk
RS1251445242
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 5
Health Risk
RS1555335782
Likely pathogenic
NR1H4-related disorder, Cholestasis, progressive familial intrahepatic
Health Risk
RS1566464880
Likely pathogenic
Health Risk
RS1593114820
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 5
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1322754256 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137946171 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140648896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147030757 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368975126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372358310 | Health Risk | Conflicting classifications of pathogenicity | NR1H4-related disorder, NR1H4-related disorder |
| RS373472692 | Health Risk | Conflicting classifications of pathogenicity | NR1H4-related disorder, NR1H4-related disorder |
| RS574925287 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1251445242 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS1555335782 | Health Risk | Likely pathogenic | NR1H4-related disorder, Cholestasis, progressive familial intrahepatic |
| RS1566464880 | Health Risk | Likely pathogenic | — |
| RS1593114820 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS2500723504 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS753528227 | Health Risk | Likely pathogenic | — |
| RS770757947 | Health Risk | Likely pathogenic | — |
| RS113090017 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS1313639936 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS1555335324 | Health Risk | Pathogenic | — |
| RS2500820482 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 5 |
| RS767846303 | Health Risk | Pathogenic | — |
| RS879255644 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 5 |