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 bioreduction of chlo... See more...

Aliases for AKR1C4 Gene

Aliases for AKR1C4 Gene

  • Aldo-Keto Reductase Family 1 Member C4 2 3 4 5
  • HAKRA 2 3 4
  • CDR 2 3 4
  • DD4 2 3 4
  • Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4 2 3
  • 3-Alpha-HSD1 3 4
  • 3-Alpha-HSD 2 3
  • CHDR 3 4
  • DD-4 3 4
  • C11 2 3
  • Aldo-Keto Reductase Family 1, Member C4 (Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4) 2
  • Type I 3-Alpha-Hydroxysteroid Dehydrogenase 3
  • 3-Alpha-Hydroxysteroid Dehydrogenase Type I 4
  • Dihydrodiol Dehydrogenase Isozyme DD4 3
  • Dihydrodiol Dehydrogenase 4 4
  • Chlordecone Reductase 4
  • EC 1.1.1.274 51
  • EC 1.1.1.357 4
  • EC 1.1.1.225 4
  • EC 1.1.1.- 4
  • MGC22581 2
  • EC 1.1.1 51
  • AKR1C4 5

External Ids for AKR1C4 Gene

Previous HGNC Symbols for AKR1C4 Gene

  • CHDR

Previous GeneCards Identifiers for AKR1C4 Gene

  • GC10P005286
  • GC10P005105
  • GC10P005091
  • GC10P005092
  • GC10P005228

Summaries for AKR1C4 Gene

Entrez Gene Summary for AKR1C4 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 bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

GeneCards Summary for AKR1C4 Gene

AKR1C4 (Aldo-Keto Reductase Family 1 Member C4) is a Protein Coding gene. Diseases associated with AKR1C4 include 46,Xy Sex Reversal 8 and 46,Xy Sex Reversal. Among its related pathways are Signaling by GPCR and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include electron transfer activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. An important paralog of this gene is AKR1C3.

UniProtKB/Swiss-Prot Summary for AKR1C4 Gene

  • Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.

Gene Wiki entry for AKR1C4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKR1C4 Gene

Genomics for AKR1C4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKR1C4 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
GH10J005195 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.7 +1.1 1081 2.1 GATAD2A REST NFKBIZ RCOR2 RXRB SP1 CEBPA SOX13 CEBPB TCF7 AKR1C4 TUBAL3 RBM17 AKR1C3 ARL4AP3 UCN3
GH10J005146 Enhancer 1.1 Ensembl ENCODE 12.3 -47.5 -47538 2.6 GATAD2A ATF7 TFE3 NFKBIZ NFRKB RCOR2 RBFOX2 RXRB IRF2 REST AKR1C8P AKR1C4 ARL4AP3 UCN3 AKR1C3 AKR1C5P lnc-AKR1C2-2 piR-41525-041
GH10J005272 Enhancer 0.8 FANTOM5 Ensembl 12.1 +78.5 78539 3.6 NFE2 ZNF316 MAFF MAFK MAFG ZNF592 NFE2L2 BACH1 EMSY AKR1C4 ENSG00000239142 AKR1C3 UCN3 LINC02561 TUBAL3 AKR1C7P lnc-TUBAL3-3
GH10J005159 Enhancer 0.3 Ensembl 11.9 -36.2 -36161 0.6 ATF3 AKR1C4 UCN3 AKR1C5P AKR1C3 lnc-AKR1C2-2 piR-31534-038 AKR1C8P lnc-AKR1C2-11
GH10J005260 Enhancer 0.3 Ensembl 11.7 +65.7 65739 0.8 RAD21 lnc-TUBAL3-3 AKR1C4 UCN3 piR-37026-037 ENSG00000231039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKR1C4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKR1C4

Top Transcription factor binding sites by QIAGEN in the AKR1C4 gene promoter:
  • C/EBPalpha
  • Evi-1
  • FOXF2
  • FOXI1
  • FOXO4
  • HFH-3
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-6
  • STAT1

Genomic Locations for AKR1C4 Gene

Genomic Locations for AKR1C4 Gene
chr10:5,195,462-5,218,949
(GRCh38/hg38)
Size:
23,488 bases
Orientation:
Plus strand
chr10:5,237,425-5,260,912
(GRCh37/hg19)
Size:
23,488 bases
Orientation:
Plus strand

Genomic View for AKR1C4 Gene

Genes around AKR1C4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1C4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1C4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1C4 Gene

Proteins for AKR1C4 Gene

  • Protein details for AKR1C4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17516-AK1C4_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member C4
    Protein Accession:
    P17516
    Secondary Accessions:
    • Q5T6A3
    • Q8WW84
    • Q9NS54

    Protein attributes for AKR1C4 Gene

    Size:
    323 amino acids
    Molecular mass:
    37067 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA35658.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKR1C4 Gene

neXtProt entry for AKR1C4 Gene

Selected DME Specific Peptides for AKR1C4 Gene

P17516:
  • SLKKLQLDY
  • KSIGVSNFN
  • EKCKDAGL

Post-translational modifications for AKR1C4 Gene

Other Protein References for AKR1C4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AKR1C4 Gene

Gene Families for AKR1C4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AKR1C4 Gene

Suggested Antigen Peptide Sequences for AKR1C4 Gene

GenScript: Design optimal peptide antigens:
  • HAKRA (AK1C4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17516

UniProtKB/Swiss-Prot:

AK1C4_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 AKR1C4: view

Function for AKR1C4 Gene

Molecular function for AKR1C4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chlordecone alcohol + NADP(+) = chlordecone + H(+) + NADPH; Xref=Rhea:RHEA:14401, ChEBI:CHEBI:15378, ChEBI:CHEBI:16548, ChEBI:CHEBI:17184, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.225;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3alpha-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:34783, ChEBI:CHEBI:15378, ChEBI:CHEBI:36835, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.357;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3alpha-hydroxysteroid + NAD(+) = a 3-oxosteroid + H(+) + NADH; Xref=Rhea:RHEA:34779, ChEBI:CHEBI:15378, ChEBI:CHEBI:36835, ChEBI:CHEBI:47788, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.357;.
GENATLAS Biochemistry:
aldo-keto reductase family 1,member C4 (3-alpha hydroxysteroid dehydrogenase,type I),with high affinity for dihydrotestosterone,chlordecone reductase,specifically expressed in liver,cytosolic,catalyzing detoxification of organochloride pesticids

Enzyme Numbers (IUBMB) for AKR1C4 Gene

Phenotypes From GWAS Catalog for AKR1C4 Gene

Gene Ontology (GO) - Molecular Function for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity IDA 21851338
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IBA 21873635
GO:0004033 aldo-keto reductase (NADP) activity TAS 7650035
GO:0005496 steroid binding IBA 21873635
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA 21873635
genes like me logo Genes that share ontologies with AKR1C4: view
genes like me logo Genes that share phenotypes with AKR1C4: view

Human Phenotype Ontology for AKR1C4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1C4

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AKR1C4 Gene

Localization for AKR1C4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1C4 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 AKR1C4 gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (2)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 2187532
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with AKR1C4: view

Pathways & Interactions for AKR1C4 Gene

genes like me logo Genes that share pathways with AKR1C4: view

Pathways by source for AKR1C4 Gene

SIGNOR curated interactions for AKR1C4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for AKR1C4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006693 prostaglandin metabolic process IBA 21873635
GO:0006699 bile acid biosynthetic process TAS --
GO:0008202 steroid metabolic process TAS,IBA 21873635
GO:0008207 C21-steroid hormone metabolic process IBA 21873635
genes like me logo Genes that share ontologies with AKR1C4: view

Drugs & Compounds for AKR1C4 Gene

(28) Drugs for AKR1C4 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
glycyrrhizin Approved, Experimental Pharma Inhibitor, Inhibition, Carrier, substrate 26
Lumateperone Approved, Investigational Pharma Enzyme, Enzyme 0
Methylprednisolone Approved, Vet_approved Pharma Enzyme, substrate Apoptosis inducer,GR agonist, Glucocorticoid receptor agonist 1553
Nabumetone Approved Pharma Enzyme, substrate 7

(33) Additional Compounds for AKR1C4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chlordecone
  • 1,2,3,4,6,7,8,9,10,10-decachloropentacyclo[5.3.0.0(2,6).0(3,9).0(4,8)]Decan-5-one
  • decachloropentacyclo[5.2.1.0(2,6).0(3,9).0(5,8)]Decan-4-one
  • GC 1189
  • Kepone
  • perchloropentacyclo[5.3.0.0(2,6).0(3,9).0(4,8)]Decan-5-one
11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al
  • 11beta,21-Dihydroxy-3,20-oxo-5beta-pregnan-18-al
  • Not available
11b,21-Dihydroxy-5b-pregnane-3,20-dione
  • 11beta,21-Dihydroxy-5beta-pregnane-3,20-dione
  • 5beta-Pregnane-11beta,21-diol-3,20-dione
566-01-8
17a,21-Dihydroxy-5b-pregnane-3,11,20-trione
  • 17alpha,21-Dihydroxy-5beta-pregnane-3,11,20-trione
  • 4,5beta-Dihydrocortisone
  • 5-Dihydrocortisone
  • 5beta-Pregnane-17alpha,21-diol-3,11,20-trione
  • 17α,21-dihydroxy-5β-pregnane-3,11,20-trione
68-54-2
21-Hydroxy-5b-pregnane-3,11,20-trione
  • 21-Hydroxy-5beta-pregnane-3,11,20-trione
10417-86-4
genes like me logo Genes that share compounds with AKR1C4: view

Transcripts for AKR1C4 Gene

mRNA/cDNA for AKR1C4 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1C4

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C4 Gene

No ASD Table

Relevant External Links for AKR1C4 Gene

GeneLoc Exon Structure for
AKR1C4

Expression for AKR1C4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKR1C4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AKR1C4 Gene

This gene is overexpressed in Liver (x52.2).

Protein differential expression in normal tissues from HIPED for AKR1C4 Gene

This gene is overexpressed in Liver, secretome (36.6) and Liver (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AKR1C4 Gene



Protein tissue co-expression partners for AKR1C4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKR1C4

SOURCE GeneReport for Unigene cluster for AKR1C4 Gene:

Hs.567245

mRNA Expression by UniProt/SwissProt for AKR1C4 Gene:

P17516-AK1C4_HUMAN
Tissue specificity: Liver specific.

Evidence on tissue expression from TISSUES for AKR1C4 Gene

  • Liver(4.7)
  • Kidney(2.2)
  • Adrenal gland(2.1)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1C4 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 AKR1C4: view

Orthologs for AKR1C4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1C4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AKR1C4 30 31
  • 98.66 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Akr1c6 30 17 31
  • 78.53 (n)
ManyToMany
Akr1c20 31
  • 73 (a)
ManyToMany
Akr1c21 31
  • 72 (a)
ManyToMany
Akr1cl 31
  • 71 (a)
ManyToMany
Akr1c18 31
  • 70 (a)
ManyToMany
Akr1c19 31
  • 70 (a)
ManyToMany
Akr1c14 31
  • 68 (a)
ManyToMany
Akr1c12 31
  • 67 (a)
ManyToMany
Akr1c13 31
  • 66 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Akr1c1 30
  • 77.61 (n)
Cow
(Bos Taurus)
Mammalia 20ALPHA-HSD 31
  • 77 (a)
ManyToMany
-- 31
  • 76 (a)
ManyToMany
BT.63212 31
  • 76 (a)
ManyToMany
-- 31
  • 76 (a)
ManyToMany
-- 31
  • 75 (a)
ManyToMany
-- 31
  • 75 (a)
ManyToMany
-- 31
  • 73 (a)
ManyToMany
AKR1C4 31
  • 73 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
-- 31
  • 70 (a)
ManyToMany
-- 31
  • 69 (a)
ManyToMany
-- 31
  • 69 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia akr1c4 30
  • 64.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10638 32
  • 43 (a)
CG12766 32
  • 43 (a)
CG9436 32
  • 41 (a)
BcDNA:GH10614 32
  • 41 (a)
CG2767 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 32
  • 40 (a)
C07D8.6 32
  • 38 (a)
T08H10.1 32
  • 37 (a)
ZC443.1 32
  • 35 (a)
F53F1.2 32
  • 34 (a)
Y39G8B.2 32
  • 34 (a)
F53F1.3 32
  • 32 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G62420 30
  • 47.17 (n)
Species where no ortholog for AKR1C4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 AKR1C4 Gene

ENSEMBL:
Gene Tree for AKR1C4 (if available)
TreeFam:
Gene Tree for AKR1C4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1C4: view image

Paralogs for AKR1C4 Gene

(11) SIMAP similar genes for AKR1C4 Gene using alignment to 1 proteins:

  • AK1C4_HUMAN

Pseudogenes.org Pseudogenes for AKR1C4 Gene

genes like me logo Genes that share paralogs with AKR1C4: view

Variants for AKR1C4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1C4 Gene

AK1C4_HUMAN-P17516
The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKR1C4 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
762297 Likely Benign: not provided 5,216,755(+) T/C SYNONYMOUS_VARIANT
779104 Benign: not provided 5,213,040(+) G/A MISSENSE_VARIANT
789027 Benign: not provided 5,205,791(+) G/A MISSENSE_VARIANT
rs201441444 Benign: Hypotension; not provided 5,205,843(+) T/G INTRON_VARIANT
rs398122815 Risk Factor: 46,XY sex reversal 8 5,200,075(+) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AKR1C4 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKR1C4 Gene

Variant ID Type Subtype PubMed ID
dgv350n106 CNV deletion 24896259
esv23753 CNV loss 19812545
esv2665273 CNV deletion 23128226
esv2673923 CNV deletion 23128226
esv2731707 CNV deletion 23290073
esv2763913 CNV gain+loss 21179565
esv3545815 CNV deletion 23714750
esv3622221 CNV loss 21293372
esv3622222 CNV gain 21293372
esv3622224 CNV gain 21293372
esv3622225 CNV loss 21293372
esv3622226 CNV loss 21293372
esv4943 CNV loss 18987735
nsv1036566 CNV loss 25217958
nsv1039386 CNV gain 25217958
nsv1048081 CNV loss 25217958
nsv1069010 CNV deletion 25765185
nsv1149325 CNV deletion 26484159
nsv508566 CNV deletion 20534489
nsv549881 CNV loss 21841781
nsv549883 CNV loss 21841781
nsv549886 CNV loss 21841781
nsv5643 CNV deletion 18451855

Variation tolerance for AKR1C4 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1C4 Gene

Human Gene Mutation Database (HGMD)
AKR1C4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1C4

Disorders for AKR1C4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AKR1C4 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
46,xy sex reversal 8
  • srxy8
46,xy sex reversal
  • 46 xy gonadal dysgenesis
cloacal exstrophy
  • oeis complex
bile acid synthesis defect, congenital, 3
  • cbas3
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AK1C4_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 gene represented in this entry may act as a disease modifier. A splicing mutation resulting in loss of AKR1C4 exon 2 has been found in affected individuals carrying a causative mutation in AKR1C2 (PubMed:21802064). These patients manifest a more severe disease phenotype than individuals only carrying mutations in AKR1C2. {ECO:0000269 PubMed:21802064}.

Additional Disease Information for AKR1C4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AKR1C4: view

No data available for Genatlas for AKR1C4 Gene

Publications for AKR1C4 Gene

  1. Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study. (PMID: 15987428) Lord SJ … Ursin G (Breast cancer research : BCR 2005) 3 23 41
  2. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PMID: 10672042) Nishizawa M … Ito S (Genes to cells : devoted to molecular & cellular mechanisms 2000) 3 4 23
  3. Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. (PMID: 7789999) Khanna M … Cheng KC (Genomics 1995) 2 3 23
  4. Molecular cloning of two human liver 3 alpha-hydroxysteroid/dihydrodiol dehydrogenase isoenzymes that are identical with chlordecone reductase and bile-acid binder. (PMID: 8172617) Deyashiki Y … Hara A (The Biochemical journal 1994) 3 4 23
  5. Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. (PMID: 2187532) Winters CJ … Guzelian PS (Biochemistry 1990) 3 4 23

Products for AKR1C4 Gene

  • Boster Bio Antibodies for AKR1C4
  • Boster Bio ELISA Kits for AKR1C4

Sources for AKR1C4 Gene