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

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AKR1C2 genetic variants mediate tobacco carcinogens metabolism involving bladder cancer susceptibility.
Title: AKR1C2 genetic variants mediate tobacco carcinogens metabolism involving bladder cancer susceptibility.
Function, drug resistance and prognostic effect of AKR1C2 in human cancer.
Title: Function, drug resistance and prognostic effect of AKR1C2 in human cancer.
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.
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.
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.
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.
Aldo-keto reductases protect metastatic melanoma from ER stress-independent ferroptosis.
Title: Aldo-keto reductases protect metastatic melanoma from ER stress-independent ferroptosis.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120422 (e-PCR)
- UniSTS:133417

SHGC-12403 (e-PCR)
- UniSTS:73049

SHGC-100143 (e-PCR)
- UniSTS:182152

STS-U05861 (e-PCR)
- UniSTS:52114

RH92273 (e-PCR)
- UniSTS:88528

RH11162 (e-PCR)
- UniSTS:89050

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

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

NP_001307956.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

NP_001345.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

NP_001380321.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

NP_995317.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

XP_047280638.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

XP_047280639.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

XP_054220900.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

XP_054220901.1

EC 1.1.1.112

EC 1.1.1.209

EC 1.1.1.357

EC 1.1.1.53

EC 1.1.1.62

EC 1.3.1.20

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

NG_031852.1 RefSeqGene

Range

19159..35241

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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]
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)
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)
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)