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 s... See more...

Aliases for AKR1C2 Gene

Aliases for AKR1C2 Gene

  • Aldo-Keto Reductase Family 1 Member C2 2 3 4 5
  • DD2 2 3 4
  • Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III 2 3
  • Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase 3 4
  • Testicular 17,20-Desmolase Deficiency 2 3
  • Chlordecone Reductase Homolog HAKRD 3 4
  • 3-Alpha-HSD3 3 4
  • DD/BABP 3 4
  • HAKRD 2 3
  • MCDR2 2 3
  • BABP 2 3
  • DD-2 3 4
  • DDH2 3 4
  • DD 2 3
  • Aldo-Keto Reductase Family 1, Member C2 (Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III) 2
  • Dihydrodiol Dehydrogenase/Bile Acid-Binding Protein 4
  • Type III 3-Alpha-Hydroxysteroid Dehydrogenase 4
  • Type II Dihydrodiol Dehydrogenase 3
  • Pseudo-Chlordecone Reductase 3
  • Dihydrodiol Dehydrogenase 2 4
  • AKR1C-Pseudo 3
  • EC 1.1.1.357 4
  • EC 1.3.1.20 4
  • EC 1.-.-.- 4
  • EC 1.1.1 51
  • AKR1C2 5
  • SRXY8 3
  • HBAB 3
  • TDD 3

External Ids for AKR1C2 Gene

Previous HGNC Symbols for AKR1C2 Gene

  • DDH2
  • TDD

Previous GeneCards Identifiers for AKR1C2 Gene

  • GC10M005079
  • GC10M004991
  • GC10M004985
  • GC10M005021
  • GC10M004922

Summaries for AKR1C2 Gene

Entrez Gene Summary for AKR1C2 Gene

  • 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]

GeneCards Summary for AKR1C2 Gene

AKR1C2 (Aldo-Keto Reductase Family 1 Member C2) is a Protein Coding gene. Diseases associated with AKR1C2 include 46,Xy Sex Reversal 8 and Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2. Among its related pathways are Synthesis of bile acids and bile salts and Steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and carboxylic acid binding. An important paralog of this gene is AKR1C1.

UniProtKB/Swiss-Prot Summary for AKR1C2 Gene

  • Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKR1C2 Gene

Genomics for AKR1C2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKR1C2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J005017 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 627.1 -2.7 -2668 6.6 LEF1 PKNOX1 RXRB MTA1 REST SP1 DPF2 HDAC1 SOX6 TCF12 AKR1C2 AKR1C3 ENSG00000239142 UCN3 AKR1C1 lnc-AKR1C2-6 piR-58297-034
GH10J005002 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl dbSUPER 621.8 +15.7 15732 3.8 RBFOX2 PKNOX1 POLR2A REST SP1 CTBP1 ATF3 ZNF217 RBM22 SIN3A AKR1C2 ENSG00000224251 AKR1C3 ENSG00000239148 LOC101928051 AKR1C1
GH10J005019 Enhancer 0.3 Ensembl dbSUPER 600.7 +0.9 932 0.2 AKR1C2 lnc-AKR1C2-6 ENSG00000239148 AKR1C1
GH10J004962 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 21.8 +53.7 53650 4 HNRNPL GATAD2A REST IKZF1 JUND RBFOX2 POLR2A IRF2 DPF2 HDAC1 AKR1C1 ENSG00000238840 AKR1C2 ENSG00000224251 piR-39858-040
GH10J004939 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +73.8 73758 10.1 GATAD2A ATF7 REST TFE3 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 ZNF7 AKR1C2 AKR1C1 ENSG00000224251 AKR1C3 piR-58297-033 piR-48209-046 AKR1E2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKR1C2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKR1C2

Genomic Locations for AKR1C2 Gene

Genomic Locations for AKR1C2 Gene
chr10:4,987,400-5,018,033
(GRCh38/hg38)
Size:
30,634 bases
Orientation:
Minus strand
chr10:5,029,967-5,060,223
(GRCh37/hg19)
Size:
30,257 bases
Orientation:
Minus strand

Genomic View for AKR1C2 Gene

Genes around AKR1C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1C2 Gene

Proteins for AKR1C2 Gene

  • Protein details for AKR1C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52895-AK1C2_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member C2
    Protein Accession:
    P52895
    Secondary Accessions:
    • A8K2N9
    • B4DKR9
    • Q14133
    • Q5SR16
    • Q7M4N1
    • Q96A71

    Protein attributes for AKR1C2 Gene

    Size:
    323 amino acids
    Molecular mass:
    36735 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AKR1C2 Gene

    Alternative splice isoforms for AKR1C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKR1C2 Gene

Selected DME Specific Peptides for AKR1C2 Gene

P52895:
  • KSIGVSNFN
  • EKCKDAGL

Post-translational modifications for AKR1C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1C2 Gene

Domains & Families for AKR1C2 Gene

Gene Families for AKR1C2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for AKR1C2 Gene

Suggested Antigen Peptide Sequences for AKR1C2 Gene

GenScript: Design optimal peptide antigens:
  • Type III 3-alpha-hydroxysteroid dehydrogenase (AK1C2_HUMAN)
  • cDNA FLJ52680, highly similar to Aldo-keto reductase family 1 member C2 (EC 1.-.-.-) (B4DK69_HUMAN)
  • cDNA FLJ53800, highly similar to Aldo-keto reductase family 1 member C2 (EC 1.-.-.-) (B4DKR9_HUMAN)
  • 3 alpha hydroxysteroid dehydrogenase III (Q1KXY7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52895

UniProtKB/Swiss-Prot:

AK1C2_HUMAN :
  • Belongs to the aldo/keto reductase family.
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1C2: view

Function for AKR1C2 Gene

Molecular function for AKR1C2 Gene

UniProtKB/Swiss-Prot Function:
Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + trans-1,2-dihydrobenzene-1,2-diol = catechol + H(+) + NADPH; Xref=Rhea:RHEA:16729, ChEBI:CHEBI:15378, ChEBI:CHEBI:16740, ChEBI:CHEBI:18135, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.20; Evidence={ECO:0000269|PubMed:8573067};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:34783, ChEBI:CHEBI:15378, ChEBI:CHEBI:36835, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.357; Evidence={ECO:0000269|PubMed:15929998, ECO:0000269|PubMed:17034817, ECO:0000269|PubMed:17442338, ECO:0000269|PubMed:8573067};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3alpha-hydroxysteroid + NAD(+) = a 3-oxosteroid + H(+) + NADH; Xref=Rhea:RHEA:34779, ChEBI:CHEBI:15378, ChEBI:CHEBI:36835, ChEBI:CHEBI:47788, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.357; Evidence={ECO:0000269|PubMed:15929998, ECO:0000269|PubMed:17034817, ECO:0000269|PubMed:17442338, ECO:0000269|PubMed:8573067};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=260 uM for (s)-tetralol {ECO:0000269|PubMed:8573067}; KM=520 uM for (s)-indan-1-ol {ECO:0000269|PubMed:8573067}; KM=5000 uM for benzene dihydrodiol {ECO:0000269|PubMed:8573067}; KM=1 uM for 5-beta-pregnane-3-alpha,20-alpha-diol {ECO:0000269|PubMed:8573067}; KM=208 uM for 9-alpha,11-beta-prostaglandin F(2) {ECO:0000269|PubMed:8573067}; KM=0.3 uM for 5-beta-androstane-3,17-dione {ECO:0000269|PubMed:8573067}; KM=79 uM for prostaglandin D(2) {ECO:0000269|PubMed:8573067};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by hexestrol with an IC(50) of 2.8 uM, 1,10-phenanthroline with an IC(50) of 2100 uM, 1,7-phenanthroline with an IC(50) of 1500 uM, flufenamic acid with an IC(50) of 0.9 uM, indomethacin with an IC(50) of 75 uM, ibuprofen with an IC(50) of 6.9 uM, lithocholic acid with an IC(50) of 0.07 uM, ursodeoxycholic acid with an IC(50) of 0.08 uM and chenodeoxycholic acid with an IC(50) of 0.13 uM.
GENATLAS Biochemistry:
aldo-keto reductase family 1,member C2 (3-alpha hydroxysteroid dehydrogenase,type III),mainly expressed in liver,also in other tissues,with high affinity binding for bile acids,also catalyzing detoxification of polycyclic aromatic hydrocarbons

Enzyme Numbers (IUBMB) for AKR1C2 Gene

Phenotypes From GWAS Catalog for AKR1C2 Gene

Gene Ontology (GO) - Molecular Function for AKR1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IDA 21232532
GO:0005496 steroid binding IBA 21873635
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA 21873635
GO:0016229 steroid dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IBA 21873635
genes like me logo Genes that share ontologies with AKR1C2: view
genes like me logo Genes that share phenotypes with AKR1C2: view

Human Phenotype Ontology for AKR1C2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AKR1C2 Gene

miRTarBase miRNAs that target AKR1C2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1C2

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AKR1C2 Gene

Localization for AKR1C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1C2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR1C2 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with AKR1C2: view

Pathways & Interactions for AKR1C2 Gene

genes like me logo Genes that share pathways with AKR1C2: view

Pathways by source for AKR1C2 Gene

SIGNOR curated interactions for AKR1C2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AKR1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006693 prostaglandin metabolic process IBA,IDA 8573067
GO:0007186 G protein-coupled receptor signaling pathway IDA 18508192
GO:0007586 digestion IDA 8573067
GO:0008202 steroid metabolic process IBA,IDA 8573067
genes like me logo Genes that share ontologies with AKR1C2: view

Drugs & Compounds for AKR1C2 Gene

(28) Drugs for AKR1C2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ursodeoxycholic acid Approved, Investigational Pharma Target, inducer, activator 127
chenodeoxycholic acid Approved Pharma Antagonist, Agonist, Full agonist, Target, substrate 29
NADH Approved Nutra Target 0
Testosterone Approved, Experimental, Investigational Pharma Target Endogenous androgen receptor agonist 660
Allopregnanolone Approved, Investigational Pharma GABA-A receptor activator, selective 0

(21) Additional Compounds for AKR1C2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5alpha-Dihydrodeoxycorticosterone
  • 5alpha-Pregnan-21-ol-3,20-dione
  • Allopregnane-21-ol-3,20-dione
  • 5a-Pregnan-21-ol-3,20-dione
  • 5α-pregnan-21-ol-3,20-dione
  • 5a-Dihydrodeoxycorticosterone
5alpha-Pregnan-20alpha-ol-3-one
  • Allopregnan-20alpha-ol-3-one
  • Allopregnan-20a-ol-3-one
  • Allopregnan-20α-ol-3-one
  • 5a-Pregnan-20a-ol-3-one
  • 5α-pregnan-20α-ol-3-one
5alpha-Pregnane-3alpha,20alpha-diol
  • Allopregnane-3alpha,20alpha-diol
  • Allopregnane-3a,20a-diol
  • Allopregnane-3α,20α-diol
  • 5a-Pregnane-3a,20a-diol
  • 5α-pregnane-3α,20α-diol
5a-Pregnane-3,20-dione
  • 3,20-Allopregnanedione
  • 3,20-dioxo-5alpha-Pregnane
  • 5-alpha-Dihydroprogesterone
  • 5alpha-Dihydroprogesterone
  • 3,20-dioxo-5a-Pregnane
566-65-4
Androsterone
  • (3alpha,5alpha)-3-Hydroxyandrostan-17-one
  • 3-Epihydroxyetioallocholan-17-one
  • 3alpha-Hydroxy-5alpha-androstan-17-one
  • 3alpha-Hydroxyetioallocholan-17-one
  • 5alpha-Androstane-3alpha-ol-17-one
53-41-8
genes like me logo Genes that share compounds with AKR1C2: view

Transcripts for AKR1C2 Gene

mRNA/cDNA for AKR1C2 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1C2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3: -
SP4:

Relevant External Links for AKR1C2 Gene

GeneLoc Exon Structure for
AKR1C2

Expression for AKR1C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKR1C2 Gene

mRNA differential expression in normal tissues according to GTEx for AKR1C2 Gene

This gene is overexpressed in Liver (x9.3), Adipose - Subcutaneous (x5.4), Muscle - Skeletal (x4.3), and Adipose - Visceral (Omentum) (x4.2).

Protein differential expression in normal tissues from HIPED for AKR1C2 Gene

This gene is overexpressed in Stomach (11.9), Liver (10.6), and Nasopharynx (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKR1C2 Gene



Protein tissue co-expression partners for AKR1C2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKR1C2

SOURCE GeneReport for Unigene cluster for AKR1C2 Gene:

Hs.567256

mRNA Expression by UniProt/SwissProt for AKR1C2 Gene:

P52895-AK1C2_HUMAN
Tissue specificity: Expressed in fetal testes. Expressed in fetal and adult adrenal glands.

Evidence on tissue expression from TISSUES for AKR1C2 Gene

  • Lung(4.9)
  • Liver(4.7)
  • Intestine(4.4)
  • Blood(2.8)
  • Skin(2.7)
  • Kidney(2.6)
  • Stomach(2.6)
  • Adrenal gland(2.5)
  • Nervous system(2.5)
  • Muscle(2.4)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1C2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • reproductive
Regions:
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
genes like me logo Genes that share expression patterns with AKR1C2: view

Orthologs for AKR1C2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1C2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKR1C2 31
  • 99 (a)
OneToOne
AKR1C1 30
  • 96.45 (n)
Cow
(Bos Taurus)
Mammalia BT.63212 31
  • 78 (a)
ManyToMany
20ALPHA-HSD 31
  • 77 (a)
ManyToMany
-- 31
  • 76 (a)
ManyToMany
-- 31
  • 76 (a)
ManyToMany
-- 31
  • 74 (a)
ManyToMany
-- 31
  • 74 (a)
ManyToMany
AKR1C4 31
  • 74 (a)
ManyToMany
-- 31
  • 73 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
-- 31
  • 71 (a)
ManyToMany
-- 31
  • 71 (a)
ManyToMany
-- 31
  • 70 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Akr1c21 30 17 31
  • 77.61 (n)
ManyToMany
Akr1c6 31
  • 76 (a)
ManyToMany
Akr1c20 31
  • 73 (a)
ManyToMany
Akr1c19 31
  • 72 (a)
ManyToMany
Akr1cl 31
  • 71 (a)
ManyToMany
Akr1c18 31
  • 71 (a)
ManyToMany
Akr1c12 31
  • 68 (a)
ManyToMany
Akr1c14 31
  • 67 (a)
ManyToMany
Akr1c13 31
  • 66 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Akr1c2 30
  • 77.57 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC53504 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.12010 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6084 32
  • 50 (a)
CG10638 32
  • 43 (a)
CG12766 32
  • 42 (a)
CG6083 32
  • 41 (a)
CG9436 32
  • 41 (a)
BcDNA:GH10614 32
  • 40 (a)
CG2767 32
  • 39 (a)
Worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 32
  • 41 (a)
Y39G8B.1b 32
  • 40 (a)
C07D8.6 32
  • 38 (a)
T08H10.1 32
  • 36 (a)
F53F1.3 32
  • 35 (a)
Y39G8B.2 32
  • 35 (a)
ZC443.1 32
  • 35 (a)
F53F1.2 32
  • 34 (a)
C01G5.5 32
  • 31 (a)
C35D10.6 32
  • 31 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G59960 30
  • 50.36 (n)
Species where no ortholog for AKR1C2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for AKR1C2 Gene

ENSEMBL:
Gene Tree for AKR1C2 (if available)
TreeFam:
Gene Tree for AKR1C2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1C2: view image

Paralogs for AKR1C2 Gene

(11) SIMAP similar genes for AKR1C2 Gene using alignment to 4 proteins:

  • AK1C2_HUMAN
  • B4DK69_HUMAN
  • Q1KXY7_HUMAN
  • S4R3P0_HUMAN
genes like me logo Genes that share paralogs with AKR1C2: view

Variants for AKR1C2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKR1C2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs13222 Pathogenic: 46,XY sex reversal 8. Pathogenic: CIC-DUX Sarcoma 4,995,770(-) A/CA/G MISSENSE_VARIANT | SYNONYMOUS_VARIANT
rs3207909 Benign: 46,XY sex reversal 8; not specified 4,999,206(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs387906750 Pathogenic: 46,XY sex reversal 8. 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,001,531(-) T/Cp.Ile79Val MISSENSE_VARIANT
rs387906751 Pathogenic: 46,XY sex reversal 8. 46,XY sex reversal 8 (SRXY8) [MIM:614279] 4,991,861(-) T/Gp.Asn300Thr MISSENSE_VARIANT
rs797044460 Pathogenic: 46,XY sex reversal 8. 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,000,649(-) A/Cp.His90Gln MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AKR1C2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKR1C2 Gene

Variant ID Type Subtype PubMed ID
dgv123n67 CNV loss 20364138
dgv2e19 OTHER inversion 19470904
dgv348n106 OTHER inversion 24896259
dgv349n106 OTHER inversion 24896259
esv1580698 OTHER inversion 17803354
esv2763913 CNV gain+loss 21179565
esv3578596 CNV loss 25503493
esv3622214 CNV loss 21293372
esv3622216 CNV loss 21293372
esv3622217 CNV gain 21293372
esv3891742 CNV loss 25118596
esv3891743 CNV loss 25118596
esv9055 OTHER inversion 19470904
nsv1036566 CNV loss 25217958
nsv1039386 CNV gain 25217958
nsv1045155 CNV loss 25217958
nsv1050246 CNV gain 25217958
nsv1078298 OTHER inversion 25765185
nsv1151631 OTHER inversion 26484159
nsv549881 CNV loss 21841781
nsv549882 CNV loss 21841781
nsv549883 CNV loss 21841781
nsv549884 CNV gain 21841781
nsv825221 CNV loss 20364138
nsv825227 CNV gain 20364138
nsv825228 CNV gain 20364138
nsv947727 CNV duplication 23825009

Variation tolerance for AKR1C2 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1C2 Gene

Human Gene Mutation Database (HGMD)
AKR1C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1C2 Gene

Disorders for AKR1C2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for AKR1C2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

AK1C2_HUMAN
  • 46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269 PubMed:21802064}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AKR1C2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AKR1C2: view

No data available for Genatlas for AKR1C2 Gene

Publications for AKR1C2 Gene

  1. Sequence of the cDNA of a human dihydrodiol dehydrogenase isoform (AKR1C2) and tissue distribution of its mRNA. (PMID: 9716498) Shiraishi H … Hara A (The Biochemical journal 1998) 2 3 4 23
  2. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. (PMID: 21802064) Flück CE … Biason-Lauber A (American journal of human genetics 2011) 2 3 4
  3. Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer. (PMID: 20056642) Setlur SR … Demichelis F (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 23 41
  4. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PMID: 19846565) Reding KW … Malone KE (American journal of epidemiology 2009) 3 23 41
  5. Crystal structure of human type III 3alpha-hydroxysteroid dehydrogenase/bile acid binding protein complexed with NADP(+) and ursodeoxycholate. (PMID: 11513593) Jin Y … Lewis M (Biochemistry 2001) 3 4 23

Products for AKR1C2 Gene

Sources for AKR1C2 Gene