This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] See more...

Aliases for SRD5A2 Gene

Aliases for SRD5A2 Gene

  • Steroid 5 Alpha-Reductase 2 2 3 5
  • 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 2 3 4
  • Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2) 2 3
  • Type II 5-Alpha Reductase 3 4
  • 5 Alpha-SR2 3 4
  • SR Type 2 3 4
  • S5AR 2 3 4
  • Steroid 5-Alpha-Reductase 2 4
  • EC 1.3.1.22 4

External Ids for SRD5A2 Gene

Previous GeneCards Identifiers for SRD5A2 Gene

  • GC02M031693
  • GC02M031876
  • GC02M031724
  • GC02M031661
  • GC02M031485

Summaries for SRD5A2 Gene

Entrez Gene Summary for SRD5A2 Gene

  • This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

GeneCards Summary for SRD5A2 Gene

SRD5A2 (Steroid 5 Alpha-Reductase 2) is a Protein Coding gene. Diseases associated with SRD5A2 include Pseudovaginal Perineoscrotal Hypospadias and Hypospadias. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors and cholestenone 5-alpha-reductase activity. An important paralog of this gene is SRD5A1.

UniProtKB/Swiss-Prot Summary for SRD5A2 Gene

  • Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.

Tocris Summary for SRD5A2 Gene

Gene Wiki entry for SRD5A2 Gene

Additional gene information for SRD5A2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRD5A2 Gene

Genomics for SRD5A2 Gene

GeneHancer (GH) Regulatory Elements for SRD5A2 Gene

Promoters and enhancers for SRD5A2 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
GH02J031580 Promoter 0.6 EPDnew 500.1 +119.8 119828 0.1 EZH2 ZFHX2 SUZ12 SRD5A2 NLRC4 piR-38344-068 ENSG00000228563 lnc-MEMO1-3
GH02J031710 Promoter 0.5 EPDnew 500.4 -9.5 -9456 0.1 HNF4A HNF4G SRD5A2 piR-31210-021 piR-40110-374 lnc-MEMO1-3
GH02J031660 Enhancer 0.4 ENCODE 0.3 +39.8 39785 1.2 FOS JUND MNT MYC STAT3 DPY30 lnc-SRD5A2-5 piR-61101-375 SRD5A2 lnc-MEMO1-3
GH02J031557 Enhancer 1 Ensembl ENCODE 0.1 +142.2 142193 1.7 TCF12 RUNX1 SKI TEAD1 ZBTB26 ATF2 FOXA2 CEBPB ARNT TRIM24 SLC30A6 ENSG00000228563 piR-38344-068 SRD5A2 lnc-MEMO1-3
GH02J031563 Enhancer 0.5 Ensembl 0.1 +137.6 137583 0.4 POLR2A FOSL2 REST ELF1 FOS CEBPB STAT3 ENSG00000228563 piR-38344-068 SRD5A2 lnc-MEMO1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRD5A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRD5A2

Top Transcription factor binding sites by QIAGEN in the SRD5A2 gene promoter:
  • ARP-1
  • CUTL1
  • FOXO1
  • FOXO1a
  • Pax-5
  • Pax-6
  • SRF
  • SRF (504 AA)
  • STAT5A
  • YY1

Genomic Locations for SRD5A2 Gene

Genomic Locations for SRD5A2 Gene
chr2:31,522,480-31,700,784
(GRCh38/hg38)
Size:
178,305 bases
Orientation:
Minus strand
chr2:31,747,550-31,806,136
(GRCh37/hg19)
Size:
58,587 bases
Orientation:
Minus strand

Genomic View for SRD5A2 Gene

Genes around SRD5A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRD5A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRD5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRD5A2 Gene

Proteins for SRD5A2 Gene

  • Protein details for SRD5A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31213-S5A2_HUMAN
    Recommended name:
    3-oxo-5-alpha-steroid 4-dehydrogenase 2
    Protein Accession:
    P31213
    Secondary Accessions:
    • B2RE87
    • Q2M1R4
    • Q9BYE6

    Protein attributes for SRD5A2 Gene

    Size:
    254 amino acids
    Molecular mass:
    28393 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SRD5A2 Gene

Post-translational modifications for SRD5A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRD5A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRD5A2 Gene

Domains & Families for SRD5A2 Gene

Gene Families for SRD5A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for SRD5A2 Gene

Blocks:
  • Methylated-DNA-[protein]-cysteine S-methyltransferase
  • 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SRD5A2 Gene

GenScript: Design optimal peptide antigens:
  • Type II 5-alpha reductase (S5A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31213

UniProtKB/Swiss-Prot:

S5A2_HUMAN :
  • Belongs to the steroid 5-alpha reductase family.
Family:
  • Belongs to the steroid 5-alpha reductase family.
genes like me logo Genes that share domains with SRD5A2: view

Function for SRD5A2 Gene

Molecular function for SRD5A2 Gene

UniProtKB/Swiss-Prot Function:
Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-oxo-5alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + H(+) + NADPH; Xref=Rhea:RHEA:54384, ChEBI:CHEBI:13601, ChEBI:CHEBI:15378, ChEBI:CHEBI:47909, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.22; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.9 uM for testosterone (at pH 6.0) {ECO:0000269 PubMed:10898110}; KM=8 uM for NADPH (at pH 6.0) {ECO:0000269 PubMed:10898110}; Vmax=1.9 nmol/min/mg enzyme with testosterone as substrate with NADPH as cofactor (at pH 6.0) {ECO:0000269 PubMed:10898110}; pH dependence: Optimally active at acidic pHs.;
GENATLAS Biochemistry:
steroid 5 alpha-reductase (3-oxo-5 alpha-steroid delta 4-dehydrogenase) alpha polypeptide 2,genital tissue,mutated in the prostate cancer in progression

Enzyme Numbers (IUBMB) for SRD5A2 Gene

Phenotypes From GWAS Catalog for SRD5A2 Gene

Gene Ontology (GO) - Molecular Function for SRD5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA 21873635
GO:0009917 sterol 5-alpha reductase activity IDA 1944596
GO:0016491 oxidoreductase activity IBA 21873635
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0030283 testosterone dehydrogenase [NAD(P)] activity IDA 10898110
genes like me logo Genes that share ontologies with SRD5A2: view
genes like me logo Genes that share phenotypes with SRD5A2: view

Human Phenotype Ontology for SRD5A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SRD5A2 Gene

MGI Knock Outs for SRD5A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRD5A2

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for SRD5A2 Gene

Localization for SRD5A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRD5A2 Gene

Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 SRD5A2 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SRD5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with SRD5A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRD5A2 Gene

Pathways & Interactions for SRD5A2 Gene

genes like me logo Genes that share pathways with SRD5A2: view

Pathways by source for SRD5A2 Gene

2 KEGG pathways for SRD5A2 Gene
2 GeneGo (Thomson Reuters) pathways for SRD5A2 Gene
  • Transcription Androgen Receptor nuclear signaling
  • Translation Non-genomic (rapid) action of Androgen Receptor

Gene Ontology (GO) - Biological Process for SRD5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA,IBA 21873635
GO:0006702 androgen biosynthetic process TAS,IEA --
GO:0007267 cell-cell signaling TAS 1944596
GO:0007548 sex differentiation IEA --
genes like me logo Genes that share ontologies with SRD5A2: view

No data available for SIGNOR curated interactions for SRD5A2 Gene

Drugs & Compounds for SRD5A2 Gene

(29) Drugs for SRD5A2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dutasteride Approved, Investigational Pharma inhibitor, Target 5-alpha-reductase inhibitor 116
Finasteride Approved Pharma inhibitor, Target Inhibitor of Type II 5α-reductase 70
Azelaic acid Approved Pharma Target, inhibitor 38
Testosterone Approved, Experimental, Investigational Pharma Endogenous androgen receptor agonist 674
Hydrocortisone Approved, Vet_approved Pharma Agonist, Enzyme, substrate 854

(12) Additional Compounds for SRD5A2 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
7a,12a-Dihydroxy-5a-cholestan-3-one
7a,12a-Dihydroxy-cholestene-3-one
  • 7-a,12-a-Dihydroxy-4-cholesten-3-one
  • 7-a,12-a-Dihydroxycholest-4-en-3-one
  • 7-a,12-alpha-Dihydroxy-4-cholesten-3-one
  • 7-a,12-alpha-Dihydroxycholest-4-en-3-one
  • 7-alpha,12-alpha-Dihydroxy-4-cholesten-3-one
Testosterone sulfate
  • Testosterone-17beta-sulfate
  • Testosterone-17b-sulfate
  • Testosterone-17b-sulfuric acid
  • Testosterone-17b-sulphate
  • Testosterone-17b-sulphuric acid
651-45-6

(2) Tocris Compounds for SRD5A2 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT 34031-32-8
PX 12 Thioredoxin-1 inhibitor 141400-58-0

(3) ApexBio Compounds for SRD5A2 Gene

Compound Action Cas Number
Dutasteride 5-alpha-reductase inhibitor 164656-23-9
Finasteride Inhibitor of Type II 5α-reductase 98319-26-7
Finasteride acetate 5α-reductase inhibitor 222989-99-3
genes like me logo Genes that share compounds with SRD5A2: view

Transcripts for SRD5A2 Gene

mRNA/cDNA for SRD5A2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 SRD5A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A2 Gene

No ASD Table

Relevant External Links for SRD5A2 Gene

GeneLoc Exon Structure for
SRD5A2

Expression for SRD5A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRD5A2 Gene

mRNA differential expression in normal tissues according to GTEx for SRD5A2 Gene

This gene is overexpressed in Liver (x21.6) and Prostate (x15.6).

Protein differential expression in normal tissues from HIPED for SRD5A2 Gene

This gene is overexpressed in Liver (39.2) and Prostate (29.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SRD5A2 Gene



Protein tissue co-expression partners for SRD5A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRD5A2

SOURCE GeneReport for Unigene cluster for SRD5A2 Gene:

Hs.458345

mRNA Expression by UniProt/SwissProt for SRD5A2 Gene:

P31213-S5A2_HUMAN
Tissue specificity: Expressed in high levels in the prostate and many other androgen-sensitive tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRD5A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • larynx
  • neck
  • vocal cord
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
General:
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SRD5A2: view

No data available for Evidence on tissue expression from TISSUES for SRD5A2 Gene

Orthologs for SRD5A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRD5A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRD5A2 30
  • 97.11 (n)
cow
(Bos Taurus)
Mammalia SRD5A2 30
  • 89.63 (n)
dog
(Canis familiaris)
Mammalia SRD5A2 30
  • 88.32 (n)
mouse
(Mus musculus)
Mammalia Srd5a2 17 30
  • 81.1 (n)
rat
(Rattus norvegicus)
Mammalia Srd5a2 30
  • 80.58 (n)
chicken
(Gallus gallus)
Aves SRD5A2 30
  • 68.25 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a2 30
  • 58.91 (n)
zebrafish
(Danio rerio)
Actinopterygii srd5a2a 30
  • 58.3 (n)
wufk70d02 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7002 30
worm
(Caenorhabditis elegans)
Secernentea F19H6.4 32 30
  • 51.28 (n)
F42F12.3 32
  • 41 (a)
ZK1251.3 32
  • 38 (a)
Species where no ortholog for SRD5A2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SRD5A2 Gene

ENSEMBL:
Gene Tree for SRD5A2 (if available)
TreeFam:
Gene Tree for SRD5A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRD5A2: view image

Paralogs for SRD5A2 Gene

Paralogs for SRD5A2 Gene

(1) SIMAP similar genes for SRD5A2 Gene using alignment to 1 proteins:

  • S5A2_HUMAN
genes like me logo Genes that share paralogs with SRD5A2: view

Variants for SRD5A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SRD5A2 Gene

S5A2_HUMAN-P31213
Individuals with Thr-49 have an increased risk of prostate cancer (PubMed:10501358). The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme (PubMed:10501358).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRD5A2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
573458 Uncertain Significance: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 31,580,758(-) G/A MISSENSE_VARIANT
582210 Uncertain Significance: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 31,533,690(-) T/G MISSENSE_VARIANT
rs1042578 Benign: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided 31,524,644(-) C/T THREE_PRIME_UTR_VARIANT
rs104893667 Pathogenic: Micropenis 31,580,823(-) G/C NONSENSE
rs1057517829 Pathogenic: not provided. Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600] 31,531,376(-) G/Ap.Pro181Leu MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SRD5A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SRD5A2 Gene

Variant ID Type Subtype PubMed ID
dgv3747n100 CNV gain 25217958
esv3575212 CNV gain 25503493
esv3583710 CNV loss 25503493
nsv1002988 CNV gain 25217958
nsv1133270 CNV tandem duplication 24896259
nsv2665 CNV insertion 18451855
nsv456030 CNV gain 19166990
nsv581269 CNV gain 21841781

Additional Variant Information for SRD5A2 Gene

Human Gene Mutation Database (HGMD)
SRD5A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRD5A2

No data available for Variation tolerance for SRD5A2 Gene

Disorders for SRD5A2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for SRD5A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudovaginal perineoscrotal hypospadias
  • ppsh
hypospadias
  • familial hypospadias
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
androgen insensitivity syndrome
  • ais
phimosis
  • tight foreskin
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S5A2_HUMAN
  • Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]: A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. {ECO:0000269 PubMed:10718838, ECO:0000269 PubMed:10898110, ECO:0000269 PubMed:10999800, ECO:0000269 PubMed:12843198, ECO:0000269 PubMed:15064320, ECO:0000269 PubMed:1522235, ECO:0000269 PubMed:15528927, ECO:0000269 PubMed:15770495, ECO:0000269 PubMed:16098368, ECO:0000269 PubMed:16181229, ECO:0000269 PubMed:7554313, ECO:0000269 PubMed:8626825, ECO:0000269 PubMed:8768837, ECO:0000269 PubMed:9208814, ECO:0000269 PubMed:9745434, ECO:0000269 PubMed:9843052}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SRD5A2 Gene

hypospadias,pseudovaginal,perineoscrotal;male pseudohermaphroditism

Additional Disease Information for SRD5A2

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 SRD5A2: view

Publications for SRD5A2 Gene

  1. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PMID: 12843198) Sasaki G … Matsuo N (The Journal of clinical endocrinology and metabolism 2003) 3 4 23 41 54
  2. Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. (PMID: 10501358) Makridakis NM … Reichardt JK (Lancet (London, England) 1999) 3 4 23 41 54
  3. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PMID: 1522235) Thigpen AE … Russell DW (The Journal of clinical investigation 1992) 2 3 4 23 54
  4. Effect of puberty onset on spontaneous hepatitis B virus e antigen seroconversion in men. (PMID: 19962986) Wu JF … Chang MH (Gastroenterology 2010) 3 23 41 54
  5. Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? (PMID: 20215396) van der Zanden LF … Franke B (The Journal of clinical endocrinology and metabolism 2010) 3 23 41 54

Products for SRD5A2 Gene

Sources for SRD5A2 Gene