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Aliases for AKR1C2 Gene

Aliases for AKR1C2 Gene

  • Aldo-Keto Reductase Family 1, Member C2 2 3 5
  • 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
  • DDH2 3 4
  • DD-2 3 4
  • DD2 3 4
  • Aldo-Keto Reductase Family 1, Member C2 (Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III) 2
  • Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase, Type III 3
  • Dihydrodiol Dehydrogenase 2; Bile Acid Binding Protein; 3-Alpha Hydroxysteroid Dehydrogenase 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
  • Type III 2
  • EC 1.1.1 63
  • HAKRD 3
  • MCDR2 3
  • SRXY8 3
  • HBAB 3
  • BABP 3
  • TDD 3
  • DD 3

External Ids for AKR1C2 Gene

Previous HGNC Symbols for AKR1C2 Gene

  • DDH2
  • TDD

Previous GeneCards Identifiers for AKR1C2 Gene

  • GC10M005079
  • GC10M004991
  • GC10M004985
  • GC10M005021

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 46xy sex reversal 8 and obesity, hyperphagia, and developmental delay. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include oxidoreductase activity and carboxylic acid binding. An important paralog of this gene is AKR1B1.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1C2 Gene

Genomics for AKR1C2 Gene

Genomic Location for AKR1C2 Gene

Chromosome:
10
Start:
4,922,564 bp from pter
End:
5,135,226 bp from pter
Size:
212,663 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

No data available for Regulatory Elements 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

Proteomics data for AKR1C2 Gene at MOPED

Selected DME Specific Peptides for AKR1C2 Gene

Post-translational modifications for AKR1C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1C2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AKR1C2 (AKR1C2)

Domains & Families for AKR1C2 Gene

Gene Families for AKR1C2 Gene

Protein Domains for AKR1C2 Gene

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

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
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 CatalyticActivity:
Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3-oxosteroid + NAD(P)H.
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.
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.

Enzyme Numbers (IUBMB) for AKR1C2 Gene

Gene Ontology (GO) - Molecular Function for AKR1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031406 carboxylic acid binding IDA 8573067
GO:0047086 ketosteroid monooxygenase activity IDA 21232532
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

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
Jensen Localization Image for AKR1C2 Gene COMPARTMENTS Subcellular localization image for AKR1C2 gene
Compartment Confidence
cytosol 4
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for AKR1C2 Gene

Pathways & Interactions for AKR1C2 Gene

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

Interacting Proteins for AKR1C2 Gene

Gene Ontology (GO) - Biological Process for AKR1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006693 prostaglandin metabolic process IDA 8573067
GO:0007186 G-protein coupled receptor signaling pathway IDA 18508192
GO:0008202 steroid metabolic process IDA 8573067
GO:0044598 doxorubicin metabolic process IMP 20837989
GO:0051897 positive regulation of protein kinase B signaling IDA 18508192
genes like me logo Genes that share ontologies with AKR1C2: view

No data available for SIGNOR curated interactions for AKR1C2 Gene

Drugs & Compounds for AKR1C2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ursodeoxycholic acid Approved, Investigational Pharma activator, Target, inducer 78
chenodeoxycholic acid Approved Pharma Antagonist 25
Ibuprofen Approved Pharma Channel blocker 456
(10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE Experimental Pharma Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
allopregnanolone
  • (+)-3a-Hydroxy-5a-pregnan-20-one
  • (3a)-Allopregnanolone
  • 3-a-Tetrahydroprogesterone
  • 3-alpha-Tetrahydroprogesterone
  • 3a,5a-Pregnanolone
516-54-1
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
5alpha-Dihydrodeoxycorticosterone
5alpha-Pregnan-20alpha-ol-3-one
5alpha-Pregnane-3alpha,20alpha-diol
genes like me logo Genes that share compounds with AKR1C2: view

Transcripts for AKR1C2 Gene

Unigene Clusters for AKR1C2 Gene

Aldo-keto reductase family 1, member C2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
AKR1C2

Expression for AKR1C2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for AKR1C2 Gene



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.
genes like me logo Genes that share expression patterns with AKR1C2: view

Protein tissue co-expression partners for AKR1C2 Gene

Primer Products

In Situ Assay Products

Orthologs for AKR1C2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1C2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Akr1c21 35
  • 77.61 (n)
  • 73.37 (a)
Akr1c21 16
Akr1c12 36
  • 68 (a)
ManyToMany
Akr1c13 36
  • 66 (a)
ManyToMany
Akr1c14 36
  • 67 (a)
ManyToMany
Akr1c18 36
  • 71 (a)
ManyToMany
Akr1c19 36
  • 72 (a)
ManyToMany
Akr1c20 36
  • 73 (a)
ManyToMany
Akr1c21 36
  • 73 (a)
ManyToMany
Akr1c6 36
  • 76 (a)
ManyToMany
Akr1cl 36
  • 71 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia AKR1C1 35
  • 96.45 (n)
  • 95.48 (a)
AKR1C2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akr1c2 35
  • 77.57 (n)
  • 70.75 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 72 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 71 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
-- 36
  • 76 (a)
ManyToMany
-- 36
  • 71 (a)
ManyToMany
-- 36
  • 73 (a)
ManyToMany
20ALPHA-HSD 36
  • 77 (a)
ManyToMany
AKR1C4 36
  • 74 (a)
ManyToMany
BT.63212 36
  • 78 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12010 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53504 35
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH10614 37
  • 40 (a)
CG10638 37
  • 43 (a)
CG12766 37
  • 42 (a)
CG2767 37
  • 39 (a)
CG6083 37
  • 41 (a)
CG6084 37
  • 50 (a)
CG9436 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea C01G5.5 37
  • 31 (a)
C07D8.6 37
  • 38 (a)
C35D10.6 37
  • 31 (a)
F53F1.2 37
  • 34 (a)
F53F1.3 37
  • 35 (a)
T08H10.1 37
  • 36 (a)
Y39G8B.1a 37
  • 41 (a)
Y39G8B.1b 37
  • 40 (a)
Y39G8B.2 37
  • 35 (a)
ZC443.1 37
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G59960 35
  • 50.36 (n)
  • 43.8 (a)
Species with no ortholog for AKR1C2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for AKR1C2 Gene

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

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

Variants for AKR1C2 Gene

Sequence variations from dbSNP and Humsavar for AKR1C2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_014748 -
rs2854482 - 5,001,629(-) CGGGT(A/T)CCACC reference, missense
VAR_066632 46,XY sex reversal 8 (SRXY8)
VAR_066633 46,XY sex reversal 8 (SRXY8)
VAR_066634 46,XY sex reversal 8 (SRXY8)

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

Variant ID Type Subtype PubMed ID
nsv894783 CNV Loss 21882294
nsv894792 CNV Gain 21882294
dgv2e19 OTHER Inversion 19470904
nsv894794 CNV Loss 21882294
nsv825221 CNV Loss 20364138
esv1580698 OTHER Inversion 17803354
esv9055 OTHER Inversion 19470904
dgv123n67 CNV Loss 20364138
nsv825227 CNV Gain 20364138
nsv825228 CNV Gain 20364138

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)

Relevant External Links for AKR1C2 Gene

HapMap Linkage Disequilibrium report
AKR1C2
Human Gene Mutation Database (HGMD)
AKR1C2

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

Disorders for AKR1C2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AKR1C2 Gene - From: OMIM, ClinVar, Orphanet, and Swiss-Prot

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for AKR1C2

Genetic Association Database (GAD)
AKR1C2
Human Genome Epidemiology (HuGE) Navigator
AKR1C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKR1C2
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. (Biochem. J. 1998) 2 3 4 23 67
  2. Human type 3 3alpha-hydroxysteroid dehydrogenase (aldo-keto reductase 1C2) and androgen metabolism in prostate cells. (PMID: 12810547) Rizner T.L. … Penning T.M. (Endocrinology 2003) 3 23 25
  3. Kinetics of allopregnanolone formation catalyzed by human 3 alpha-hydroxysteroid dehydrogenase type III (AKR1C2). (PMID: 12416991) Trauger J.W. … LoGrasso P.V. (Biochemistry 2002) 3 23 25
  4. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. (PMID: 21802064) Fluck C.E. … Biason-Lauber A. (Am. J. Hum. Genet. 2011) 2 3
  5. Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer. (PMID: 20056642) Setlur S.R. … Demichelis F. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 23

Products for AKR1C2 Gene

Sources for AKR1C2 Gene

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