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Aliases for AKR1C2 Gene

Aliases for AKR1C2 Gene

  • Aldo-Keto Reductase Family 1, Member C2 2 3
  • DDH2 3 4 6
  • DD2 3 4 6
  • 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 3 6
  • SRXY8 3 6
  • DD-2 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
  • Aldo-Keto Reductase Family 1 Member C2 3
  • 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 64
  • MCDR2 3
  • HBAB 3
  • BABP 3
  • TDD 3
  • DD 3

External Ids for AKR1C2 Gene

Previous Symbols for AKR1C2 Gene

  • DDH2
  • TDD

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 46,xy disorder of sex development due to isolated 17,20 lyase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Domains for AKR1C2 Gene

Gene Families for AKR1C2 Gene

HGNC:
  • AKR :Aldo-keto reductases

Protein Domains for AKR1C2 Gene

UniProtKB/Swiss-Prot:

AK1C2_HUMAN
Family:
  • Belongs to the aldo/keto reductase family.:
    • P52895
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-PGF2 {ECO:0000269 PubMed:8573067}; KM=0.3 uM for 5-beta-androstane-3,17-dione {ECO:0000269 PubMed:8573067}; KM=79 uM for PGD2 {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:0004032 alditol:NADP+ 1-oxidoreductase activity IDA 21232532
GO:0004958 prostaglandin F receptor activity --
GO:0016491 oxidoreductase activity --
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA 20837989
GO:0018636 phenanthrene 9,10-monooxygenase activity IDA 21851338
genes like me logo Genes that share ontologies with AKR1C2: view

Phenotypes for AKR1C2 Gene

GenomeRNAi human phenotypes for AKR1C2:
genes like me logo Genes that share phenotypes with AKR1C2: view

miRNA for AKR1C2 Gene

miRTarBase miRNAs that target AKR1C2

No data available for Animal Models , Transcription Factor Targeting 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 3
nucleus 2

Gene Ontology (GO) - Cellular Components for AKR1C2 Gene

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

Pathways for AKR1C2 Gene

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

Pathways by source for AKR1C2 Gene

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:0007586 digestion IDA 8573067
GO:0008202 steroid metabolic process IDA 8573067
GO:0008284 positive regulation of cell proliferation IDA 18508192
genes like me logo Genes that share ontologies with AKR1C2: view

Compounds for AKR1C2 Gene

(12) HMDB Compounds for AKR1C2 Gene

Compound Synonyms Cas Number PubMed IDs
Androstanedione
  • 5a-Androsta-3,17-dione
846-46-8
Androsterone
  • (3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one
53-41-8
Chenodeoxycholic acid
  • (+)-chenodeoxycholate
474-25-9
Ibuprofen
  • alpha-(4-Isobutylphenyl)propionate
15687-27-1
Lithocholic acid
  • (3a,5b)-3-hydroxy-cholan-24-oate
434-13-9

(4) Drugbank Compounds for AKR1C2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE
target
2'-Monophosphoadenosine 5'-Diphosphoribose
target
NADH
  • beta-DPNH
606-68-8 target
Ursodeoxycholic acid
  • (3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
128-13-2 target inducer

(25) Novoseek inferred chemical compound relationships for AKR1C2 Gene

Compound -log(P) Hits PubMed IDs
3alpha-hydroxysteroid 94.4 13
5alpha-androstane-3alpha,17beta-diol 91.2 7
dihydroprogesterone 83.1 1
dihydrotestosterone 80.1 28
chlordecone 77.9 4
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:

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 (9.3), Adipose - Subcutaneous (5.4), Muscle - Skeletal (4.3), and Adipose - Visceral (Omentum) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions 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 AKR1C1 36
  • 96.45 (n)
  • 95.48 (a)
AKR1C2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 72 (a)
ManyToMany
-- 37
  • 72 (a)
ManyToMany
-- 37
  • 70 (a)
ManyToMany
-- 37
  • 71 (a)
ManyToMany
-- 37
  • 76 (a)
ManyToMany
-- 37
  • 74 (a)
ManyToMany
-- 37
  • 74 (a)
ManyToMany
-- 37
  • 76 (a)
ManyToMany
-- 37
  • 71 (a)
ManyToMany
-- 37
  • 73 (a)
ManyToMany
20ALPHA-HSD 37
  • 77 (a)
ManyToMany
AKR1C4 37
  • 74 (a)
ManyToMany
BT.63212 37
  • 78 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Akr1c12 37
  • 68 (a)
ManyToMany
Akr1c13 37
  • 66 (a)
ManyToMany
Akr1c14 37
  • 67 (a)
ManyToMany
Akr1c18 37
  • 71 (a)
ManyToMany
Akr1c19 37
  • 72 (a)
ManyToMany
Akr1c20 37
  • 73 (a)
ManyToMany
Akr1c21 36
  • 77.61 (n)
  • 73.37 (a)
Akr1c21 16
Akr1c21 37
  • 73 (a)
ManyToMany
Akr1c6 37
  • 76 (a)
ManyToMany
Akr1cl 37
  • 71 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akr1c2 36
  • 77.57 (n)
  • 70.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC53504 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12010 36
fruit fly
(Drosophila melanogaster)
Insecta CG6084 38
  • 50 (a)
CG10638 38
  • 43 (a)
CG6083 38
  • 41 (a)
BcDNA:GH10614 38
  • 40 (a)
CG9436 38
  • 41 (a)
CG2767 38
  • 39 (a)
CG12766 38
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea T08H10.1 38
  • 36 (a)
C07D8.6 38
  • 38 (a)
Y39G8B.1b 38
  • 40 (a)
C01G5.5 38
  • 31 (a)
F53F1.2 38
  • 34 (a)
ZC443.1 38
  • 35 (a)
Y39G8B.2 38
  • 35 (a)
F53F1.3 38
  • 35 (a)
C35D10.6 38
  • 31 (a)
Y39G8B.1a 38
  • 41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G59960 36
  • 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

Paralogs for AKR1C2 Gene

Selected 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 MAF
rs8314 -- 5,001,610(-) TCTGC(A/T)CATGT reference, synonymous-codon
rs8493 -- 5,001,640(-) GCAAT(A/T)GAAGC reference, synonymous-codon
rs8625 -- 5,001,663(-) AAGCT(C/T)TAGAG reference, synonymous-codon
rs13945 -- 5,000,592(-) TTGGA(C/T)TATGT reference, synonymous-codon
rs1132229 -- 5,013,507(-) GCCCA(C/T)CTACA intron-variant

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

Relevant External Links for AKR1C2 Gene

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

Disorders for AKR1C2 Gene

(1) OMIM Diseases for AKR1C2 Gene (600450)

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.

(1) University of Copenhagen DISEASES for AKR1C2 Gene

(7) Novoseek inferred disease relationships for AKR1C2 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 29.9 12
colon carcinoma 27.4 1
breast cancer 13.3 2
obesity 10.7 1
nsclc 0 1

Relevant External Links for AKR1C2

Genetic Association Database (GAD)
AKR1C2
Human Genome Epidemiology (HuGE) Navigator
AKR1C2
genes like me logo Genes that share disorders with AKR1C2: view

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
  2. Structure of a gene coding for human dihydrodiol dehydrogenase/bile acid-binding protein. (PMID: 7959017) Qin K.-N. … Cheng K.-C. (Gene 1994) 3 4 23
  3. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PMID: 10672042) Nishizawa M. … Ito S. (Genes Cells 2000) 3 4 23
  4. Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. (PMID: 8573067) Hara A. … Ishida N. (Biochem. J. 1996) 3 4 23
  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

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