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Aliases for AKR1C3 Gene

Aliases for AKR1C3 Gene

  • Aldo-Keto Reductase Family 1 Member C3 2 3 5
  • Prostaglandin F Synthase 2 3 4
  • Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase 3 4
  • 3-Alpha Hydroxysteroid Dehydrogenase, Type II 2 3
  • Testosterone 17-Beta-Dehydrogenase 5 3 4
  • Chlordecone Reductase Homolog HAKRb 3 4
  • Dihydrodiol Dehydrogenase 3 3 4
  • Dihydrodiol Dehydrogenase X 2 3
  • 3-Alpha-HSD Type II, Brain 3 4
  • Indanol Dehydrogenase 3 4
  • HSD17B5 3 4
  • HA1753 3 4
  • PGFS 3 4
  • DD3 3 4
  • Aldo-Keto Reductase Family 1, Member C3 (3-Alpha Hydroxysteroid Dehydrogenase, Type II) 2
  • Type IIb 3-Alpha Hydroxysteroid Dehydrogenase 3
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 5 4
  • 3-Alpha-Hydroxysteroid Dehydrogenase Type 2 4
  • Hydroxysteroid (17-Beta) Dehydrogenase 5 2
  • Dihydrodiol Dehydrogenase Type I 4
  • 3-Alpha-HSD Type 2 4
  • 17-Beta-HSD 5 4
  • EC 1.1.1.357 4
  • EC 1.1.1.112 4
  • EC 1.1.1.188 4
  • EC 1.1.1.239 4
  • EC 1.1.1.64 4
  • EC 1.3.1.20 4
  • EC 1.-.-.- 4
  • KIAA0119 4
  • EC 1.1.1 61
  • HluPGFS 3
  • HAKRB 3
  • HAKRe 3
  • DDH1 4
  • DD-3 4
  • DDX 3

External Ids for AKR1C3 Gene

Previous HGNC Symbols for AKR1C3 Gene

  • HSD17B5

Previous GeneCards Identifiers for AKR1C3 Gene

  • GC10P005184
  • GC10P005090
  • GC10P005126
  • GC10P005077

Summaries for AKR1C3 Gene

Entrez Gene Summary for AKR1C3 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 by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. 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 different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for AKR1C3 Gene

AKR1C3 (Aldo-Keto Reductase Family 1 Member C3) is a Protein Coding gene. Diseases associated with AKR1C3 include Skin Squamous Cell Carcinoma and Endometriosis Of Ovary. Among its related pathways are Metabolism of fat-soluble vitamins and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is AKR1C1.

UniProtKB/Swiss-Prot for AKR1C3 Gene

  • Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone.

Gene Wiki entry for AKR1C3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1C3 Gene

Genomics for AKR1C3 Gene

Regulatory Elements for AKR1C3 Gene

Enhancers for AKR1C3 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
GH10F005069 1.3 FANTOM5 Ensembl ENCODE 17.5 +36.2 36152 4.1 PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 YY1 REST SREBF1 MEF2D AKR1C3 AKR1C2 AKR1C1 PIR40953 ENSG00000239142
GH10F005032 1.1 Ensembl ENCODE 16.6 -1.8 -1849 1.2 JUN RFX5 ZNF316 RCOR1 FOS TRIM24 NFE2 MAFK NFE2L2 CEBPB AKR1C3 AKR1C2
GH10F005025 0.7 Ensembl ENCODE 16 -9.9 -9853 1.0 GATA3 HLF NR3C1 AKR1C2 AKR1C3
GH10F005022 0.2 ENCODE 15.3 -12.5 -12537 0.0 AKR1C3 AKR1C2
GH10F005021 1.2 FANTOM5 Ensembl 14.7 -13.3 -13254 0.6 MCM3 AKR1C3 AKR1C2 ENSG00000239142 UCN3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AKR1C3 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKR1C3 Gene

Chromosome:
10
Start:
5,035,354 bp from pter
End:
5,107,686 bp from pter
Size:
72,333 bases
Orientation:
Plus strand

Genomic View for AKR1C3 Gene

Genes around AKR1C3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1C3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1C3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1C3 Gene

Proteins for AKR1C3 Gene

  • Protein details for AKR1C3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42330-AK1C3_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member C3
    Protein Accession:
    P42330
    Secondary Accessions:
    • A8K2V0
    • B4DL37
    • Q5T2L1
    • Q96DJ1
    • Q96KI8
    • Q99530
    • Q9UCX1
    • Q9UII3
    • Q9UKL9

    Protein attributes for AKR1C3 Gene

    Size:
    323 amino acids
    Molecular mass:
    36853 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA04619.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKR1C3 Gene

    Alternative splice isoforms for AKR1C3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKR1C3 Gene

Selected DME Specific Peptides for AKR1C3 Gene

P42330:
  • KSIGVSNFN
  • EKCKDAGL

Post-translational modifications for AKR1C3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AKR1C3 Gene

Antibody Products

  • R&D Systems Antibodies for AKR1C3 (Aldo-keto Reductase 1C3/AKR1C3)

Domains & Families for AKR1C3 Gene

Gene Families for AKR1C3 Gene

Graphical View of Domain Structure for InterPro Entry

P42330

UniProtKB/Swiss-Prot:

AK1C3_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 AKR1C3: view

Function for AKR1C3 Gene

Molecular function for AKR1C3 Gene

GENATLAS Biochemistry:
aldo-keto reductase family 1,member C3 (3-alpha hydroxysteroid dehydrogenase,type II),with low affinity for dihydrotestosterone,expressed in brain,kidney,liver,placenta,testis
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=142.1 uM for progesterone {ECO:0000269 PubMed:10557352}; KM=2.37 uM for 5-alpha-dihydrotestosterone {ECO:0000269 PubMed:10557352}; KM=1.0 uM for androstanediol {ECO:0000269 PubMed:10557352}; Vmax=20.1 nmol/min/mg enzyme with progesterone as substrate {ECO:0000269 PubMed:10557352}; Vmax=1.8 nmol/min/mg enzyme with 5-alpha-dihydrotestosterone as substrate {ECO:0000269 PubMed:10557352}; Vmax=4.4 nmol/min/mg enzyme with androstanediol as substrate {ECO:0000269 PubMed:10557352};
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 CatalyticActivity:
(5Z,13E)-(15S)-9-alpha,11-alpha,15-trihydroxyprosta-5,13-dienoate + NADP(+) = (5Z,13E)-(15S)-9-alpha,15-dihydroxy-11-oxoprosta-5,13-dienoate + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NAD(+) = androstenedione + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
Indan-1-ol + NAD(P)(+) = indanone + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by nonsteroidal anti-inflammatory drugs (NSAID) including flufenamic acid and indomethacin. Also inhibited by the flavinoid, rutin, and by selective serotonin inhibitors (SSRIs).
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone.

Gene Ontology (GO) - Molecular Function for AKR1C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity IDA 21851338
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IDA 21232532
GO:0004033 aldo-keto reductase (NADP) activity TAS 9792917
GO:0004745 retinol dehydrogenase activity IDA 21851338
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with AKR1C3: view
genes like me logo Genes that share phenotypes with AKR1C3: view

Animal Models for AKR1C3 Gene

MGI Knock Outs for AKR1C3:

Animal Model Products

miRNA for AKR1C3 Gene

miRTarBase miRNAs that target AKR1C3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKR1C3 Gene

Localization for AKR1C3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1C3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKR1C3 Gene COMPARTMENTS Subcellular localization image for AKR1C3 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AKR1C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA 18574251
GO:0005737 cytoplasm IEA,IDA 18574251
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with AKR1C3: view

Pathways & Interactions for AKR1C3 Gene

genes like me logo Genes that share pathways with AKR1C3: view

Interacting Proteins for AKR1C3 Gene

Gene Ontology (GO) - Biological Process for AKR1C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation IDA 21787718
GO:0001523 retinoid metabolic process TAS --
GO:0006693 prostaglandin metabolic process TAS 9792917
GO:0007186 G-protein coupled receptor signaling pathway IDA 18508192
GO:0007584 response to nutrient IEP 19007764
genes like me logo Genes that share ontologies with AKR1C3: view

No data available for SIGNOR curated interactions for AKR1C3 Gene

Drugs & Compounds for AKR1C3 Gene

(27) Drugs for AKR1C3 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Enzyme, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1714
Bimatoprost Approved, Investigational Pharma Full agonist, Agonist, Target 132
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 546
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1918
Exemestane Approved, Investigational Pharma Steroidal aromatase inhibitor,selective and irreversible 212

(34) Additional Compounds for AKR1C3 Gene - From: Novoseek and HMDB

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
11b-PGF2a
  • (5Z,13E,15S)-9alpha,11beta,15-trihydroxyprosta-5,13-dien-1-oate
  • (5Z,13E,15S)-9alpha,11beta,15-trihydroxyprosta-5,13-dien-1-oic acid
  • (Z)-7-[(1R,2R,3S,5S)-3,5-dihydroxy-2-[(E,3S)-3-hydroxyoct-1-enyl]cyclopentyl]hept-5-enoate
  • (Z)-7-[(1R,2R,3S,5S)-3,5-dihydroxy-2-[(E,3S)-3-hydroxyoct-1-enyl]cyclopentyl]hept-5-enoic acid
  • 11-Epi-PGF2a
11-Epi-PGF2a
  • 11-Epi-PGF2a
  • 11-Epi-PGF2alpha
  • 11-Epi-Prostaglandin F2a
  • 11-Epi-Prostaglandin F2alpha
5alpha-Dihydrodeoxycorticosterone
5alpha-Pregnan-20alpha-ol-3-one
genes like me logo Genes that share compounds with AKR1C3: view

Transcripts for AKR1C3 Gene

Unigene Clusters for AKR1C3 Gene

Aldo-keto reductase family 1, member C3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C3 Gene

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

Relevant External Links for AKR1C3 Gene

GeneLoc Exon Structure for
AKR1C3
ECgene alternative splicing isoforms for
AKR1C3

Expression for AKR1C3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKR1C3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1C3 Gene

This gene is overexpressed in Liver (x6.6) and Colon - Transverse (x5.3).

Protein differential expression in normal tissues from HIPED for AKR1C3 Gene

This gene is overexpressed in Liver, secretome (35.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKR1C3 Gene



NURSA nuclear receptor signaling pathways regulating expression of AKR1C3 Gene:

AKR1C3

SOURCE GeneReport for Unigene cluster for AKR1C3 Gene:

Hs.78183

mRNA Expression by UniProt/SwissProt for AKR1C3 Gene:

P42330-AK1C3_HUMAN
Tissue specificity: Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate.
genes like me logo Genes that share expression patterns with AKR1C3: view

Primer Products

No data available for Protein tissue co-expression partners for AKR1C3 Gene

Orthologs for AKR1C3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AKR1C3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR1C3 34 35
  • 99.17 (n)
cow
(Bos Taurus)
Mammalia AKR1C4 34 35
  • 81.53 (n)
BT.63212 35
  • 78 (a)
ManyToMany
-- 35
  • 77 (a)
ManyToMany
-- 35
  • 76 (a)
ManyToMany
-- 35
  • 76 (a)
ManyToMany
20ALPHA-HSD 35
  • 76 (a)
ManyToMany
-- 35
  • 75 (a)
ManyToMany
-- 35
  • 74 (a)
ManyToMany
-- 35
  • 74 (a)
ManyToMany
-- 35
  • 74 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Akr1c18 34 16 35
  • 79.46 (n)
Akr1c20 35
  • 76 (a)
ManyToMany
Akr1c6 35
  • 76 (a)
ManyToMany
Akr1c19 35
  • 72 (a)
ManyToMany
Akr1c21 35
  • 72 (a)
ManyToMany
Akr1cl 35
  • 71 (a)
ManyToMany
Akr1c14 35
  • 69 (a)
ManyToMany
Akr1c12 35
  • 67 (a)
ManyToMany
Akr1c13 35
  • 65 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Akr1c3 34
  • 78.64 (n)
dog
(Canis familiaris)
Mammalia AKR1C3 34 35
  • 72.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6084 36
  • 50 (a)
CG10638 36
  • 42 (a)
CG12766 36
  • 42 (a)
CG6083 36
  • 42 (a)
BcDNA:GH10614 36
  • 40 (a)
CG9436 36
  • 40 (a)
CG2767 36
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 36
  • 40 (a)
Y39G8B.1b 36
  • 40 (a)
C07D8.6 36
  • 37 (a)
T08H10.1 36
  • 37 (a)
F53F1.2 36
  • 34 (a)
ZC443.1 36
  • 34 (a)
F53F1.3 36
  • 33 (a)
Y39G8B.2 36
  • 33 (a)
C01G5.5 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
Species where no ortholog for AKR1C3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for AKR1C3 Gene

ENSEMBL:
Gene Tree for AKR1C3 (if available)
TreeFam:
Gene Tree for AKR1C3 (if available)

Paralogs for AKR1C3 Gene

Paralogs for AKR1C3 Gene

(11) SIMAP similar genes for AKR1C3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AKR1C3: view

Variants for AKR1C3 Gene

Sequence variations from dbSNP and Humsavar for AKR1C3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs193920842 Uncertain significance 5,094,471(+) GTAAA(G/T)CTAAA intron-variant, reference, missense
rs483352820 untested 5,102,173(+) TGGTT(A/G)CCTAT reference, missense
rs10160019 -- 5,107,235(+) TGACT(C/T)TGTGT intron-variant
rs10400032 -- 5,064,881(+) tgagt(C/T)ccaat intron-variant
rs10400188 -- 5,064,264(+) AAGTC(C/T)CAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKR1C3 Gene

Variant ID Type Subtype PubMed ID
esv2668683 CNV deletion 23128226
esv2763913 CNV gain+loss 21179565
esv3622214 CNV loss 21293372
esv3622219 CNV loss 21293372
esv3622220 CNV loss 21293372
esv3622221 CNV loss 21293372
esv3622222 CNV gain 21293372
esv3891742 CNV loss 25118596
nsv1036566 CNV loss 25217958
nsv1039386 CNV gain 25217958
nsv1045155 CNV loss 25217958
nsv1047686 CNV loss 25217958
nsv1048081 CNV loss 25217958
nsv1050246 CNV gain 25217958
nsv1161924 CNV duplication 26073780
nsv466714 CNV loss 19166990
nsv549881 CNV loss 21841781
nsv549882 CNV loss 21841781
nsv549883 CNV loss 21841781
nsv549885 CNV loss 21841781
nsv831773 CNV loss 17160897
nsv947728 CNV duplication 23825009

Variation tolerance for AKR1C3 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKR1C3 Gene

Human Gene Mutation Database (HGMD)
AKR1C3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1C3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1C3 Gene

Disorders for AKR1C3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AKR1C3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
skin squamous cell carcinoma
  • epidermoid skin carcinoma
endometriosis of ovary
  • ovarian endometriosis
childhood leukemia
renal cell carcinoma, papillary
  • renal cell carcinoma, papillary, 1
prostate disease
  • prostate diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AKR1C3

Genetic Association Database (GAD)
AKR1C3
Human Genome Epidemiology (HuGE) Navigator
AKR1C3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKR1C3
genes like me logo Genes that share disorders with AKR1C3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKR1C3 Gene

Publications for AKR1C3 Gene

  1. 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
  2. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. (PMID: 19460435) Plourde M. … Simard J. (J. Steroid Biochem. Mol. Biol. 2009) 3 22 46 64
  3. Nonreplication of the type 5 17beta-hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome. (PMID: 17940109) Goodarzi M.O. … Azziz R. (J. Clin. Endocrinol. Metab. 2008) 3 22 46 64
  4. Maternal and offspring genetic variants of AKR1C3 and the risk of childhood leukemia. (PMID: 18339682) Liu C.Y. … Christiani D.C. (Carcinogenesis 2008) 3 22 46 64
  5. Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma. (PMID: 17149600) Lan Q. … Chanock S. (Hum. Genet. 2007) 3 22 46 64

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