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AKR1C2 aldo-keto reductase family 1 member C2 [ Homo sapiens (human) ]

Gene ID: 1646, updated on 10-Dec-2024

Summary

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Official Symbol
AKR1C2provided by HGNC
Official Full Name
aldo-keto reductase family 1 member C2provided by HGNC
Primary source
HGNC:HGNC:385
See related
Ensembl:ENSG00000151632 MIM:600450; AllianceGenome:HGNC:385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DD; DD2; TDD; BABP; DD-2; DDH2; HBAB; HAKRD; MCDR2; SRXY8; DD/BABP; AKR1C-pseudo
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 cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Biased expression in fat (RPKM 84.8), liver (RPKM 37.2) and 10 other tissues See more
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Genomic context

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See AKR1C2 in Genome Data Viewer
Location:
10p15.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (4987775..5018000, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (4988109..5018344, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5029967..5060192, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member E2 Neighboring gene aldo-keto reductase family 1 member C6, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr10.185 Neighboring gene Sharpr-MPRA regulatory region 2775 Neighboring gene uncharacterized LOC124902365 Neighboring gene aldo-keto reductase family 1 member C1 Neighboring gene uncharacterized LOC101928051 Neighboring gene CRISPRi-validated cis-regulatory element chr10.193 Neighboring gene uncharacterized LOC107984198 Neighboring gene uncharacterized LOC124902366 Neighboring gene aldo-keto reductase family 1 member C3 Neighboring gene Sharpr-MPRA regulatory region 11333 Neighboring gene U8 small nucleolar RNA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. AKR1C2 acts as a targetable oncogene in esophageal squamous cell carcinoma via activating PI3K/AKT signaling pathway. Zhang ZF, et al. J Cell Mol Med, 2020 Sep. PMID 32678482, Free PMC Article
  2. Human 3-alpha hydroxysteroid dehydrogenase type 3 (3α-HSD3): the V54L mutation restricting the steroid alternative binding and enhancing the 20α-HSD activity. Zhang B, et al. J Steroid Biochem Mol Biol, 2014 May. PMID 24434280
  3. Proteomics-based identification of secreted protein dihydrodiol dehydrogenase 2 as a potential biomarker for predicting cisplatin efficacy in advanced NSCLC patients. Kuang P, et al. Lung Cancer, 2012 Aug. PMID 22534668
  4. Glucocorticoid-induced androgen inactivation by aldo-keto reductase 1C2 promotes adipogenesis in human preadipocytes. Veilleux A, et al. Am J Physiol Endocrinol Metab, 2012 Apr 15. PMID 22275760
  5. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Flück CE, et al. Am J Hum Genet, 2011 Aug 12. PMID 21802064, Free PMC Article

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AKR1C2 genetic variants mediate tobacco carcinogens metabolism involving bladder cancer susceptibility.
    Title: AKR1C2 genetic variants mediate tobacco carcinogens metabolism involving bladder cancer susceptibility.
  2. Function, drug resistance and prognostic effect of AKR1C2 in human cancer.
    Title: Function, drug resistance and prognostic effect of AKR1C2 in human cancer.
  3. Comprehensive analysis regarding the prognostic significance of downregulated ferroptosis-related gene AKR1C2 in gastric cancer and its underlying roles in immune response.
    Title: Comprehensive analysis regarding the prognostic significance of downregulated ferroptosis-related gene AKR1C2 in gastric cancer and its underlying roles in immune response.
  4. AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants.
    Title: AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants.
  5. AKR1C2 acts as a targetable oncogene in esophageal squamous cell carcinoma via activating PI3K/AKT signaling pathway.
    Title: AKR1C2 acts as a targetable oncogene in esophageal squamous cell carcinoma via activating PI3K/AKT signaling pathway.
  6. Ligand entry in human ileal bile acid-binding protein is mediated by histidine protonation.
    Title: Ligand entry in human ileal bile acid-binding protein is mediated by histidine protonation.
  7. Aldo-keto reductases protect metastatic melanoma from ER stress-independent ferroptosis.
    Title: Aldo-keto reductases protect metastatic melanoma from ER stress-independent ferroptosis.
  8. Tibolone is metabolized by the 3alpha/3beta-hydroxysteroid dehydrogenase activities of the four human isozymes of the aldo-keto reductase 1C subfamily: inversion of stereospecificity with a delta5(10)-3-ketosteroid.
    Title: Tibolone is metabolized by the 3alpha/3beta-hydroxysteroid dehydrogenase activities of the four human isozymes of the aldo-keto reductase 1C subfamily: inversion of stereospecificity with a delta5(10)-3-ketosteroid.
  9. Curcumin treatments considerably increased the expression of AKR1C2 in prostate cancer cell lines.
    Title: Modulation of AKR1C2 by curcumin decreases testosterone production in prostate cancer.
  10. Data show that increased levels of AKR1C1/C2 enhanced the sensitivity of esophageal squamous cell carcinoma (ESCC) cells to ethyl-3,4-dihydroxybenzoate (EDHB).
    Title: The roles of AKR1C1 and AKR1C2 in ethyl-3,4-dihydroxybenzoate induced esophageal squamous cell carcinoma cell death.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
MedGen: C1839840 OMIM: 614279 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ53800

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aldose reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldose reductase (NADPH) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables androsterone dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables bile acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables bile acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables carboxylic acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
Inferred from Electronic Annotation
more info
  
enables indanol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables ketosteroid monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ketosteroid monooxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
 PubMed 
enables trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to jasmonic acid stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to prostaglandin D stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in daunorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in digestion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in doxorubicin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in progesterone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in progesterone metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in prostaglandin metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in prostaglandin metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in steroid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
aldo-keto reductase family 1 member C2
Names
3-alpha-HSD3
chlordecone reductase homolog HAKRD
dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III
pseudo-chlordecone reductase
testicular 17,20-desmolase deficiency
trans-1,2-dihydrobenzene-1,2-diol dehydrogenase
type II dihydrodiol dehydrogenase
NP_001128713.1
NP_001307956.1
NP_001345.1
NP_001380321.1
NP_995317.1
XP_047280638.1
XP_047280639.1
XP_054220900.1
XP_054220901.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031852.1 RefSeqGene

    Range
    19159..35241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135241.3 → NP_001128713.1  aldo-keto reductase family 1 member C2 isoform 2

    See identical proteins and their annotated locations for NP_001128713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks multiple 3' coding exons, and includes a different terminal exon compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL391427
    Consensus CDS
    CCDS44350.1
    UniProtKB/TrEMBL
    B4E0M1
    Related
    ENSP00000408440.1, ENST00000455190.2
    Conserved Domains (1) summary
    cl00470
    Location:6 → 123
    AKR_SF; Aldo-keto reductase (AKR) superfamily

  2. NM_001321027.2 → NP_001307956.1  aldo-keto reductase family 1 member C2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL391427, AL713867
    Consensus CDS
    CCDS81438.1
    UniProtKB/TrEMBL
    B4DK69
    Related
    ENSP00000392694.2, ENST00000421196.7
    Conserved Domains (2) summary
    COG0656
    Location:8 → 279
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
    COG0667
    Location:17 → 271
    Tas; Predicted oxidoreductase (related to aryl-alcohol dehydrogenase) [General function prediction only]

  3. NM_001354.6 → NP_001345.1  aldo-keto reductase family 1 member C2 isoform 1

    See identical proteins and their annotated locations for NP_001345.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL391427, AL713867, BC007024, CA450425, DA451165, DA458030
    Consensus CDS
    CCDS7062.1
    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
    Conserved Domains (1) summary
    cd19108
    Location:6 → 308
    AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

  4. NM_001393392.1 → NP_001380321.1  aldo-keto reductase family 1 member C2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL391427, AL713867
    Consensus CDS
    CCDS7062.1
    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
    Related
    ENSP00000370129.4, ENST00000380753.9
    Conserved Domains (1) summary
    cd19108
    Location:6 → 308
    AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

  5. NM_205845.3 → NP_995317.1  aldo-keto reductase family 1 member C2 isoform 1

    See identical proteins and their annotated locations for NP_995317.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL713867, BC007024, BC063574, CA450425
    Consensus CDS
    CCDS7062.1
    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
    Conserved Domains (1) summary
    cd19108
    Location:6 → 308
    AKR_AKR1C1-35; AKR1C family of aldo-keto reductase (AKR)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    4987775..5018000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424682.1 → XP_047280638.1  aldo-keto reductase family 1 member C2 isoform X1

    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71

  2. XM_047424683.1 → XP_047280639.1  aldo-keto reductase family 1 member C2 isoform X1

    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    4988109..5018344 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364925.1 → XP_054220900.1  aldo-keto reductase family 1 member C2 isoform X1

    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71

  2. XM_054364926.1 → XP_054220901.1  aldo-keto reductase family 1 member C2 isoform X1

    UniProtKB/Swiss-Prot
    A8K2N9, B4DKR9, P52895, Q14133, Q5SR16, Q7M4N1, Q96A71
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P52895.3 GenPept UniProtKB/Swiss-Prot:P52895

Gene LinkOut

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