Identity
HGNC
LOCATION
10p15.1
LOCUSID
ALIAS
3-alpha-HSD,C11,CDR,CHDR,DD-4,DD4,HAKRA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1109
MIM: 600451
HGNC: 387
Ensembl: ENSG00000198610
Variants:
dbSNP: 1109
ClinVar: 1109
TCGA: ENSG00000198610
COSMIC: AKR1C4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198610 | ENST00000263126 | P17516 |
| ENSG00000198610 | ENST00000380448 | P17516 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA449212 | daunorubicin | Chemical | VariantAnnotation | associated | PK | 20837989 | |
| PA449563 | exemestane | Chemical | ClinicalAnnotation | associated | PK | 27111237 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28259989 | 2017 | Mefenamic acid enhances anticancer drug sensitivity via inhibition of aldo-keto reductase 1C enzyme activity. | 20 |
| 28259989 | 2017 | Mefenamic acid enhances anticancer drug sensitivity via inhibition of aldo-keto reductase 1C enzyme activity. | 20 |
| 24189185 | 2014 | Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism. | 80 |
| 24189185 | 2014 | Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism. | 80 |
| 22356824 | 2012 | Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder. | 12 |
| 22356824 | 2012 | Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder. | 12 |
| 21521174 | 2011 | Stereospecific reduction of 5β-reduced steroids by human ketosteroid reductases of the AKR (aldo-keto reductase) superfamily: role of AKR1C1-AKR1C4 in the metabolism of testosterone and progesterone via the 5β-reductase pathway. | 21 |
| 21570127 | 2011 | AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. | 7 |
| 21521174 | 2011 | Stereospecific reduction of 5β-reduced steroids by human ketosteroid reductases of the AKR (aldo-keto reductase) superfamily: role of AKR1C1-AKR1C4 in the metabolism of testosterone and progesterone via the 5β-reductase pathway. | 21 |
| 21570127 | 2011 | AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. | 7 |
| 19692168 | 2010 | Genetic susceptibility to distinct bladder cancer subphenotypes. | 30 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
| 20214802 | 2010 | Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. | 11 |
| 19692168 | 2010 | Genetic susceptibility to distinct bladder cancer subphenotypes. | 30 |
| 20201926 | 2010 | Human variation in alcohol response is influenced by variation in neuronal signaling genes. | 52 |
Citation
Dessen P
AKR1C4 (aldo-keto reductase family 1 member C4)
Atlas Genet Cytogenet Oncol Haematol. 2017-04-01
Online version: http://atlasgeneticsoncology.org/gene/56854/gene-fusions/meetings/
