Basic gene information | Gene symbol | AKR1C4 |
Gene name | aldo-keto reductase family 1, member C4 |
Synonyms | 3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA |
Cytomap | UCSC genome browser: 10p15.1 |
Type of gene | protein-coding |
RefGenes | NM_001818.3,
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Description | 3-alpha-HSD1aldo-keto reductase family 1 member C4chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4dihydrodiol dehydrogenase isozyme DD4type I 3-alpha-hydroxysteroid dehydrogenase |
Modification date | 20141211 |
dbXrefs | MIM : 600451 |
HGNC : HGNC |
Ensembl : ENSG00000198610 |
HPRD : 07040 |
Vega : OTTHUMG00000017591 |
Protein | UniProt: go to UniProt's Cross Reference DB Table |
Expression | CleanEX: HS_AKR1C4 |
BioGPS: 1109 |
Pathway | NCI Pathway Interaction Database: AKR1C4 |
KEGG: AKR1C4 |
REACTOME: AKR1C4 |
Pathway Commons: AKR1C4 |
Context | iHOP: AKR1C4 |
ligand binding site mutation search in PubMed: AKR1C4 |
UCL Cancer Institute: AKR1C4 |
Assigned class in TissGDB* | A |
Included tissue-specific gene expression resources | HPA,TiGER,GTEx |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC |
Reference showing the relevant tissue of AKR1C4 | Tibolone metabolism in human liver is catalyzed by 3alpha/3beta-hydroxysteroid dehydrogenase activities of the four isoforms of the aldo-keto reductase (AKR)1C subfamily. Steckelbroeck S, Oyesanmi B, Jin Y, Lee SH, Kloosterboer HJ, Penning TM. J Pharmacol Exp Ther. 2006 Mar;316(3):1300-9. Epub 2005 Dec 8. (pmid:16339391) go to article |
Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS
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BRCA (tumor) | BRCA (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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COAD (tumor) | COAD (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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HNSC (tumor) | HNSC (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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KICH (tumor) | KICH (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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KIRC (tumor) | KIRC (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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KIRP (tumor) | KIRP (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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LIHC (tumor) | LIHC (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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LUAD (tumor) | LUAD (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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LUSC (tumor) | LUSC (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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PRAD (tumor) | PRAD (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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STAD (tumor) | STAD (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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THCA (tumor) | THCA (normal) |
AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (tumor) | AKR1C4, HNF4A, ONECUT1, HNF1A, HNF4G (normal) |
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Disease ID | Disease name | # pubmeds | Source |
umls:C0011265 | Presenile dementia | 12 | BeFree |
umls:C0497327 | Dementia | 12 | BeFree |
umls:C0338656 | Impaired cognition | 5 | BeFree |
umls:C1270972 | Mild cognitive disorder | 5 | BeFree |
umls:C0002395 | Alzheimer's Disease | 3 | BeFree |
umls:C0023434 | Chronic Lymphocytic Leukemia | 3 | BeFree |
umls:C0262404 | Cerebellar degeneration | 3 | BeFree |
umls:C3494623 | Mild dementia | 3 | BeFree |
umls:C0001973 | Alcoholic Intoxication, Chronic | 2 | BeFree,GAD |
umls:C0005586 | Bipolar Disorder | 2 | BeFree,CTD_human |
umls:C0005684 | Malignant neoplasm of urinary bladder | 2 | BeFree,GAD |
umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
umls:C0019693 | HIV Infections | 2 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 2 | BeFree |
umls:C0338831 | Manic | 2 | BeFree |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0004623 | Bacterial Infections | 1 | BeFree |
umls:C0022521 | Kartagener Syndrome | 1 | BeFree |
umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
umls:C0024301 | Lymphoma, Follicular | 1 | BeFree |
umls:C0026764 | Multiple Myeloma | 1 | BeFree |
umls:C0027051 | Myocardial Infarction | 1 | BeFree |
umls:C0032463 | Polycythemia Vera | 1 | BeFree |
umls:C0033027 | Preleukemia | 1 | BeFree |
umls:C0038454 | Cerebrovascular accident | 1 | BeFree |
umls:C0038868 | Progressive supranuclear palsy | 1 | BeFree |
umls:C0040028 | Thrombocythemia, Essential | 1 | BeFree |
umls:C0042769 | Virus Diseases | 1 | BeFree |
umls:C0085090 | Lymphoma, AIDS-Related | 1 | BeFree |
umls:C0085400 | Neurofibrillary degeneration (morphologic abnormality) | 1 | BeFree |
umls:C0235946 | Cerebral atrophy | 1 | BeFree |
umls:C0241934 | Hypomania | 1 | BeFree |
umls:C0242006 | secondary myelofibrosis | 1 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
umls:C0242422 | Parkinsonian Disorders | 1 | BeFree |
umls:C0333463 | Senile Plaques | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
umls:C0600139 | Prostate carcinoma | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
umls:C0747249 | Paranoid ideation | 1 | BeFree |
umls:C1264606 | Persistent infection | 1 | BeFree |
umls:C1392786 | Cognitive changes | 1 | BeFree |
umls:C1456784 | Paranoia | 1 | BeFree,CTD_human |
umls:C1846502 | Mammographic Density | 1 | BeFree |
umls:C3463824 | MYELODYSPLASTIC SYNDROME | 1 | BeFree |
umls:C1839840 | MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE | 0 | CLINVAR,ORPHANET |