AKR1C2 (aldo-keto reductase family 1 member C2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1646
Gene name Aldo-keto reductase family 1 member C2
Gene symbol AKR1C2
Synonyms (NCBI Gene)
AKR1C-pseudoBABPDDDD-2DD/BABPDD2DDH2HAKRDHBABMCDR2SRXY8TDD
Chromosome 10
Chromosome location 10p15.1
Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofacto
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs387906750 T>C Pathogenic Coding sequence variant, missense variant
rs387906751 T>G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs797044460 A>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT006986 hsa-miR-193b-3p Luciferase reporter assay 21512034
MIRT006986 hsa-miR-193b-3p Reporter assay;Proteomics 21512034
MIRT776283 hsa-miR-1825 CLIP-seq
MIRT776284 hsa-miR-199a-5p CLIP-seq
MIRT776285 hsa-miR-199b-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
Transcription factor Regulation Reference
TWIST1 Activation 19051271
TWIST2 Activation 19051271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (40)
GO ID Ontology Definition Evidence Reference
GO:0004032 Function Aldose reductase (NADPH) activity IBA
GO:0004032 Function Aldose reductase (NADPH) activity IDA 21232532
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600450 385 ENSG00000151632
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52895
Protein name Aldo-keto reductase family 1 member C2 (EC 1.-.-.-) (EC 1.1.1.112) (EC 1.1.1.209) (EC 1.1.1.53) (EC 1.1.1.62) (EC 1.3.1.20) (3-alpha-HSD3) (Chlordecone reductase homolog HAKRD) (Dihydrodiol dehydrogenase 2) (DD-2) (DD2) (Dihydrodiol dehydrogenase/bile aci
Protein function Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by phys
PDB 1IHI , 1J96 , 1XJB , 2HDJ , 2IPJ , 4JQ1 , 4JQ2 , 4JQ3 , 4JQ4 , 4JQA , 4JTQ , 4JTR , 4L1W , 4L1X , 4XO6 , 4XO7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 18 → 301 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal testes. Expressed in fetal and adult adrenal glands. {ECO:0000269|PubMed:21802064}.
Sequence
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - reactive oxygen species 		  Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency Pathogenic rs387906750, rs797044460, rs387906751, rs13222 RCV000022967
RCV000022968
RCV000022969
RCV000022970
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
17 ALPHA-HYDROXYPROGESTERONE ALDOLASE DEFICIENCY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AKR1C2-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (80)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46, XY disorder of sex development Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenocarcinoma Adenocarcinoma LHGDN 18396902
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18396902
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29874986
★★★★★
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia CTD_human_DG 25304492
★★★★★
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Epithelium Barrett Epithelium BEFREE 18396902
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus LHGDN 18396902
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 17203165
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15492289, 19846565
★★★★★
★☆☆☆☆
Found in Text Mining only