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Aliases for AKR1C2 Gene

Aliases for AKR1C2 Gene

  • Aldo-Keto Reductase Family 1 Member C2 2 3 5
  • 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
  • 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/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 61
  • 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
  • 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 46Xy Sex Reversal 8 and Obesity, Hyperphagia, And Developmental Delay. Among its related pathways are Synthesis of bile acids and bile salts and Steroid hormone biosynthesis. GO annotations related to this gene include oxidoreductase activity and carboxylic acid binding. An important paralog of this gene is AKR1C1.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1C2 Gene

Genomics for AKR1C2 Gene

Regulatory Elements for AKR1C2 Gene

Enhancers for AKR1C2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G005018 1.4 Ensembl ENCODE dbSUPER 27.2 -1.9 -1932 2.9 HDAC1 ELF3 TBP PKNOX1 RAD21 YY1 TCF12 NCOA1 ZEB2 PPARG AKR1C2 AKR1C3 ENSG00000239142 UCN3 AKR1C1
GH10G004939 1.6 Ensembl ENCODE dbSUPER 19.9 +76.2 76153 5.0 HDGF PKNOX1 CREB3L1 ARNT SIN3A YY1 ZNF766 PAF1 REST KAT8 AKR1C2 AKR1C1 GC10P004937 ENSG00000238840
GH10G004981 1.5 Ensembl ENCODE dbSUPER 12.5 +33.6 33562 6.3 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF48 TCF12 GATA2 KLF13 PAF1 AKR1C2 LOC101928051 AKR1C1 AKR1C3 GC10P004986 GC10P004980
GH10G004962 1.2 ENCODE dbSUPER 15.6 +54.2 54207 2.9 HDAC1 ELF3 TBP ATF1 ARID4B SIN3A ZSCAN9 YY1 TCF12 GATA4 AKR1C2 LOC105376384 AKR1C1 LOC101928051 GC10P004980
GH10G004956 0.8 dbSUPER 22.2 +60.1 60076 3.2 SOX13 PKNOX1 FOXA2 SAP130 ZNF644 CTBP1 ZNF316 POLR2A FOS NFE2 AKR1C2 AKR1C1 LOC101928051 ENSG00000238840 GC10P004937
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AKR1C2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKR1C2 Gene

Chromosome:
10
Start:
4,987,400 bp from pter
End:
5,018,033 bp from pter
Size:
30,634 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

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:0004032 alditol:NADP+ 1-oxidoreductase activity IDA 21232532
GO:0016491 oxidoreductase activity IEA --
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
GO:0031406 carboxylic acid binding IDA 8573067
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

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 4
nucleus 2
lysosome 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 & Interactions for AKR1C2 Gene

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

Pathways by source for AKR1C2 Gene

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 IDA 8573067
GO:0007186 G-protein coupled receptor signaling pathway IDA 18508192
GO:0007586 digestion IDA 8573067
GO:0008202 steroid metabolic process IDA,IEA 8573067
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

(20) 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 activator, Target, inducer 97
chenodeoxycholic acid Approved Pharma Antagonist 34
Ibuprofen Approved Pharma Channel blocker 518
(10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE Experimental Pharma Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
5a-Pregnane-3,20-dione
  • 3,20-Allopregnanedione
  • 3,20-Dioxo-5a-pregnane
  • 3,20-Dioxo-5alpha-pregnane
  • 5-alpha-Dihydroprogesterone
  • 5-alpha-Pregnane-3,20-dione
566-65-4
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AKR1C2 Gene



Protein tissue co-expression partners for AKR1C2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKR1C2 Gene:

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(4.8)
  • Liver(4.7)
  • Intestine(4.3)
  • Kidney(2.1)
  • Blood(2)
  • Skin(2)

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

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

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

(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
rs387906750 Pathogenic, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,001,531(-) AAGAC(A/G)TATTC reference, missense
rs387906751 Pathogenic, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 4,991,861(-) CCTAA(A/C)CAGAA reference, missense
rs797044460 Pathogenic, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,000,649(-) TCCCA(G/T)CGACC reference, missense
VAR_066634 46,XY sex reversal 8 (SRXY8) [MIM:614279]
rs10643636 -- 4,994,269(+) ATATC(-/AATT)TATAT intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
46xy sex reversal 8
  • 46xy sex reversal 8, modifier of
obesity, hyperphagia, and developmental delay
  • obhd
cauda equina syndrome
  • polyradiculopathy
bacillary angiomatosis
  • angiomatosis, bacillary
parasitic protozoa infectious disease
  • mastigophora infectious disease
- 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 22 64
  2. 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 4 64
  3. 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 22 46 64
  4. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PMID: 19846565) Reding K.W. … Malone K.E. (Am. J. Epidemiol. 2009) 3 22 46 64
  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 22 64

Products for AKR1C2 Gene

Sources for AKR1C2 Gene

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