Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AKR1C2 Gene

Aliases for AKR1C2 Gene

  • Aldo-Keto Reductase Family 1 Member C2 2 3 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
  • HAKRD 3
  • MCDR2 3
  • SRXY8 3
  • BABP 3
  • HBAB 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 46,Xy Sex Reversal 8 and Bacillary Angiomatosis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. 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 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.

Additional gene information for AKR1C2 Gene

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

GeneHancer (GH) Regulatory Elements for AKR1C2 Gene

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
GH10J005003 Promoter/Enhancer 1.6 EPDnew Ensembl dbSUPER 669.4 +14.2 14232 0.8 DRAP1 MEIS2 PKNOX1 TAF1 CEBPB SIN3A CEBPG REST SP1 ATF4 AKR1C2 ENSG00000239148 LOC101928051
GH10J005018 Enhancer 1.2 Ensembl ENCODE dbSUPER 677.2 -1.9 -1932 2.9 HDAC1 ELF3 PKNOX1 SIN3A RAD21 YY1 TCF12 ATF7 RXRA NCOA1 AKR1C2 AKR1C3 ENSG00000239142 UCN3 AKR1C1
GH10J005017 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 +0.0 13 0.1 AKR1C2 ENSG00000239148
GH10J004962 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 15.6 +54.2 54206 2.9 HDAC1 ELF3 ARID4B SIN3A ZSCAN9 TCF12 POLR2B CREM THAP11 MIXL1 AKR1C1 ENSG00000238840 AKR1C2 GDI2 LOC105376384 LOC101928051 GC10P004980 GC10M004934
GH10J004939 Enhancer 1.4 Ensembl ENCODE dbSUPER 19.9 +76.2 76152 5 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 ATF7 RXRA CAVIN1 NCOA1 AKR1C2 AKR1C1 GC10P004937 ENSG00000238840 GC10M004934
- 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 UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for AKR1C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1C2 Gene

No data available for DME Specific Peptides 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

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:
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 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};
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 --
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA --
GO:0016229 steroid dehydrogenase activity IBA --
GO:0016491 oxidoreductase activity IEA,IBA --
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

miRNA for AKR1C2 Gene

miRTarBase miRNAs that target 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 4
nucleus 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
  • Nucleoli fibrillar center (2)
  • Nucleus (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 --
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

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

(21) 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 104
chenodeoxycholic acid Approved Pharma Antagonist, Full agonist, Agonist, Target, substrate 35
NADH Approved Nutra Target 0
glycyrrhizin Approved, Experimental Pharma Inhibition, Inhibitor, Carrier, substrate 22
Ibuprofen Approved Pharma Channel blocker, Inhibition, Inhibitor 547

(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-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
genes like me logo Genes that share compounds with AKR1C2: view

Transcripts for AKR1C2 Gene

mRNA/cDNA for AKR1C2 Gene

Unigene Clusters for AKR1C2 Gene

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

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
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, 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(2.2)
  • Blood(2)
  • Skin(2)

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 34
  • 99 (a)
OneToOne
AKR1C1 33
  • 96.45 (n)
cow
(Bos Taurus)
Mammalia BT.63212 34
  • 78 (a)
ManyToMany
20ALPHA-HSD 34
  • 77 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
AKR1C4 34
  • 74 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 70 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Akr1c21 16 34 33
  • 77.61 (n)
Akr1c6 34
  • 76 (a)
ManyToMany
Akr1c20 34
  • 73 (a)
ManyToMany
Akr1c19 34
  • 72 (a)
ManyToMany
Akr1cl 34
  • 71 (a)
ManyToMany
Akr1c18 34
  • 71 (a)
ManyToMany
Akr1c12 34
  • 68 (a)
ManyToMany
Akr1c14 34
  • 67 (a)
ManyToMany
Akr1c13 34
  • 66 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Akr1c2 33
  • 77.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12010 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53504 33
fruit fly
(Drosophila melanogaster)
Insecta CG6084 35
  • 50 (a)
CG10638 35
  • 43 (a)
CG12766 35
  • 42 (a)
CG6083 35
  • 41 (a)
CG9436 35
  • 41 (a)
BcDNA:GH10614 35
  • 40 (a)
CG2767 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 35
  • 41 (a)
Y39G8B.1b 35
  • 40 (a)
C07D8.6 35
  • 38 (a)
T08H10.1 35
  • 36 (a)
F53F1.3 35
  • 35 (a)
ZC443.1 35
  • 35 (a)
Y39G8B.2 35
  • 35 (a)
F53F1.2 35
  • 34 (a)
C01G5.5 35
  • 31 (a)
C35D10.6 35
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G59960 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1C2: view image

Paralogs for AKR1C2 Gene

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 from dbSNP and Humsavar for AKR1C2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs387906750 pathogenic, 46,XY sex reversal 8, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,001,531(-) T/C coding_sequence_variant, missense_variant
rs387906751 pathogenic, 46,XY sex reversal 8, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 4,991,861(-) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs797044460 pathogenic, 46,XY sex reversal 8, 46,XY sex reversal 8 (SRXY8) [MIM:614279] 5,000,649(-) A/C coding_sequence_variant, missense_variant
VAR_066634 46,XY sex reversal 8 (SRXY8) [MIM:614279] p.His222Gln
rs3207909 benign, not specified 4,999,206(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant

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

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

Disorder Aliases PubMed IDs
46,xy sex reversal 8
  • srxy8
bacillary angiomatosis
  • angiomatosis, bacillary
cauda equina syndrome
  • polyradiculopathy
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.

Additional Disease Information for AKR1C2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 58
  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 22 44 58
  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 22 44 58
  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 58

Products for AKR1C2 Gene

Sources for AKR1C2 Gene

Content
Loading form....