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

Aliases for SRD5A2 Gene

Aliases for SRD5A2 Gene

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

External Ids for SRD5A2 Gene

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, Alpha Polypeptide 2 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2)) is a Protein Coding gene. Diseases associated with SRD5A2 include pseudovaginal perineoscrotal hypospadias and pseudohermaphroditism. Among its related pathways are Glioma and Metabolism. GO annotations related to this gene include 3-oxo-5-alpha-steroid 4-dehydrogenase activity and sterol 5-alpha reductase activity.

UniProtKB/Swiss-Prot 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

Gene Wiki entry for SRD5A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRD5A2 Gene

Genomics for SRD5A2 Gene

Genomic Location for SRD5A2 Gene

Start:
31,522,480 bp from pter
End:
31,581,067 bp from pter
Size:
58,588 bases
Orientation:
Minus strand

Genomic View for SRD5A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SRD5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRD5A2 Gene

Regulatory Elements 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

Proteomics data for SRD5A2 Gene at MOPED

Post-translational modifications for SRD5A2 Gene

No Post-translational modifications

Other Protein References for SRD5A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SRD5A2 Gene

Domains for SRD5A2 Gene

UniProtKB/Swiss-Prot:

S5A2_HUMAN
Family:
  • Belongs to the steroid 5-alpha reductase family.:
    • P31213
genes like me logo Genes that share domains with SRD5A2: view

No data available for Gene Families for SRD5A2 Gene

Function for SRD5A2 Gene

Molecular function for SRD5A2 Gene

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
UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimally active at acidic pHs.;
UniProtKB/Swiss-Prot CatalyticActivity: A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH
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

Enzyme Numbers (IUBMB) 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 IEA --
GO:0009917 sterol 5-alpha reductase activity IDA 1944596
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0033218 amide binding IEA --
GO:0047751 cholestenone 5-alpha-reductase activity IEA --
genes like me logo Genes that share ontologies with SRD5A2: view

Phenotypes for SRD5A2 Gene

MGI mutant phenotypes for SRD5A2:
inferred from 1 alleles
GenomeRNAi human phenotypes for SRD5A2:
genes like me logo Genes that share phenotypes with SRD5A2: view

Animal Models for SRD5A2 Gene

MGI Knock Outs for SRD5A2:

No data available for miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SRD5A2 Gene COMPARTMENTS Subcellular localization image for SRD5A2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 1

Gene Ontology (GO) - Cellular Components for SRD5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SRD5A2: view

Pathways for SRD5A2 Gene

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

Interacting Proteins for SRD5A2 Gene

Gene Ontology (GO) - Biological Process for SRD5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006694 steroid biosynthetic process --
GO:0006702 androgen biosynthetic process TAS --
GO:0006706 steroid catabolic process IEA --
GO:0007267 cell-cell signaling TAS 1944596
genes like me logo Genes that share ontologies with SRD5A2: view

Compounds for SRD5A2 Gene

(3) Tocris Compounds for SRD5A2 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT [34031-32-8]
ES 936 Mechanism-based inhibitor of NAD(P)H:quinone oxidoreductase (NQO1) [192820-78-3]
Finasteride Type II 5alpha-reductase inhibitor [98319-26-7]

(7) HMDB Compounds for SRD5A2 Gene

Compound Synonyms Cas Number PubMed IDs
7a,12a-Dihydroxy-5a-cholestan-3-one
  • 7a,12a-Dihydroxy-5a-cholestan-3-one
Not Available
7a,12a-Dihydroxy-cholestene-3-one
  • 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one
Not Available
Androstanedione
  • 5a-Androsta-3,17-dione
846-46-8
Androstenedione
  • (4)-Androsten-3,17-dione
63-05-8
Dihydrotestosterone
  • 17-Hydroxy-androstan-3-one
521-18-6

(3) Drugbank Compounds for SRD5A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Azelaic Acid
  • Anchoic acid
123-99-9 target inhibitor
Dutasteride
164656-23-9 target inhibitor
Finasteride
  • Finasterida [INN-Spanish]
98319-26-7 target inhibitor

(24) Novoseek inferred chemical compound relationships for SRD5A2 Gene

Compound -log(P) Hits PubMed IDs
dihydrotestosterone 88.6 37
testosterone 81.5 74
steroid 66.8 38
finasteride 63.5 5
valine 59.7 10
genes like me logo Genes that share compounds with SRD5A2: view

Transcripts for SRD5A2 Gene

mRNA/cDNA for SRD5A2 Gene

Unigene Clusters for SRD5A2 Gene

Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2):
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: - -

Relevant External Links for SRD5A2 Gene

GeneLoc Exon Structure for
SRD5A2
ECgene alternative splicing isoforms for
SRD5A2

Expression for SRD5A2 Gene

mRNA expression in normal human tissues for SRD5A2 Gene

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

This gene is overexpressed in Liver (21.6) and Prostate (15.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SRD5A2 Gene

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

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 36
  • 97.11 (n)
  • 94.88 (a)
cow
(Bos Taurus)
Mammalia SRD5A2 36
  • 89.63 (n)
  • 85.83 (a)
dog
(Canis familiaris)
Mammalia SRD5A2 36
  • 88.32 (n)
  • 84.25 (a)
mouse
(Mus musculus)
Mammalia Srd5a2 36
  • 81.1 (n)
  • 75.2 (a)
Srd5a2 16
rat
(Rattus norvegicus)
Mammalia Srd5a2 36
  • 80.58 (n)
  • 77.56 (a)
chicken
(Gallus gallus)
Aves SRD5A2 36
  • 68.25 (n)
  • 65.87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a2 36
  • 58.91 (n)
  • 55.81 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7002 36
zebrafish
(Danio rerio)
Actinopterygii srd5a2a 36
  • 58.3 (n)
  • 55.06 (a)
wufk70d02 36
worm
(Caenorhabditis elegans)
Secernentea F19H6.4 36
  • 51.28 (n)
  • 43.44 (a)
ZK1251.3 38
  • 38 (a)
F42F12.3 38
  • 41 (a)
F19H6.4 38
  • 41 (a)
Species with no ortholog for SRD5A2:
  • 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)

Paralogs for SRD5A2 Gene

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

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

No data available for Paralogs for SRD5A2 Gene

Variants for SRD5A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SRD5A2 Gene

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

Sequence variations from dbSNP and Humsavar for SRD5A2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs372319 -- 31,528,761(+) actcc(A/G)actca intron-variant
rs413836 -- 31,532,977(+) aaccc(A/G)cagcc intron-variant
rs479847 -- 31,577,953(-) tatag(C/T)tggac intron-variant
rs493165 -- 31,575,109(-) CAAGA(A/T)AAGCA intron-variant
rs494302 -- 31,579,806(+) ACCCT(A/G)ACATC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv456030 CNV Gain 19166990
nsv2665 CNV Insertion 18451855

Relevant External Links for SRD5A2 Gene

HapMap Linkage Disequilibrium report
SRD5A2
Human Gene Mutation Database (HGMD)
SRD5A2

Disorders for SRD5A2 Gene

(1) OMIM Diseases for SRD5A2 Gene (607306)

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:10999800, 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.

(19) Novoseek inferred disease relationships for SRD5A2 Gene

Disease -log(P) Hits PubMed IDs
pseudohermaphroditism male 90.7 12
prostate cancer 76.8 95
micropenis 75.1 9
virilization 74.1 7
pseudohermaphroditism 72.9 2

Genatlas disease for SRD5A2 Gene

hypospadias,pseudovaginal,perineoscrotal;male pseudohermaphroditism

Relevant External Links for SRD5A2

Genetic Association Database (GAD)
SRD5A2
Human Genome Epidemiology (HuGE) Navigator
SRD5A2
genes like me logo Genes that share disorders with SRD5A2: view

Publications for SRD5A2 Gene

  1. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PMID: 1522235) Thigpen A.E. … Russell D.W. (J. Clin. Invest. 1992) 2 3 4 23
  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 N.M. … Reichardt J.K.V. (Lancet 1999) 3 4 23 49
  3. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PMID: 12843198) Sasaki G. … Matsuo N. (J. Clin. Endocrinol. Metab. 2003) 3 4 23 49
  4. Analysis of genetic polymorphisms of steroid 5alpha-reductase type 1 and 2 genes in Korean men with androgenetic alopecia. (PMID: 12670724) Ha S.J. … Kim J.W. (J. Dermatol. Sci. 2003) 3 23 25 49
  5. SRD5A2 gene polymorphisms and the risk of prostate cancer: a meta-analysis. (PMID: 12869400) Ntais C. … Ioannidis J.P. (Cancer Epidemiol. Biomarkers Prev. 2003) 3 23 49

Products for SRD5A2 Gene

Sources for SRD5A2 Gene

Back to Top

Content