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Aliases for SRD5A2 Gene

Aliases for SRD5A2 Gene

  • Steroid 5 Alpha-Reductase 2 2 3
  • Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2) 2 5
  • 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 2
  • 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

Previous GeneCards Identifiers for SRD5A2 Gene

  • GC02M031693
  • GC02M031876
  • GC02M031724
  • GC02M031661

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 steroid 5-alpha-reductase deficiency. Among its related pathways are Metabolism and Glioma. 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 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

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

Genomics for SRD5A2 Gene

Regulatory Elements for SRD5A2 Gene

Genomic Location for SRD5A2 Gene

Chromosome:
2
Start:
31,522,480 bp from pter
End:
31,700,784 bp from pter
Size:
178,305 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

Proteomics data for SRD5A2 Gene at MOPED

Post-translational modifications for SRD5A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRD5A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SRD5A2 Gene

Domains & Families for SRD5A2 Gene

Suggested Antigen Peptide Sequences for SRD5A2 Gene

GenScript: Design optimal peptide antigens:

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

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:0033218 amide binding IEA --
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

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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SRD5A2 Gene

Pathways & Interactions 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 IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006702 androgen biosynthetic process IEA,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

No data available for SIGNOR curated interactions for SRD5A2 Gene

Drugs & Compounds for SRD5A2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dutasteride Approved, Investigational Pharma inhibitor, Target 5-alpha-reductase inhibitor 111
Finasteride Approved Pharma inhibitor, Target Inhibitor of Type II 5α-reductase, Type II 5alpha-reductase inhibitor 64
Azelaic acid Approved Pharma Target, inhibitor 30
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 474
Spironolactone Approved Pharma Antagonist, Target, antagonist Mineralocorticoid receptor antagonist 159

(16) Additional Compounds for SRD5A2 Gene - From: Novoseek, HMDB, and Tocris

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-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
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Testosterone sulfate
  • 17-O-Sulfotestosterone
  • 17beta-(Sulfooxy)androst-4-en-3-one
  • Testosterone 17-sulfate
  • Testosterone 17-sulphate
  • Testosterone 17b-sulfate
651-45-6

(5) Tocris Compounds for SRD5A2 Gene

Compound Action Cas Number
Auranofin Thioredoxin reductase inhibitor; induces MPT 34031-32-8
Cl-4AS-1 Steroidal androgen receptor agonist 188589-66-4
Finasteride Type II 5alpha-reductase inhibitor 98319-26-7
PX 12 Thioredoxin-1 inhibitor 141400-58-0
TFM-4AS-1 Selective androgen receptor modulator (SARM) 188589-61-9

(2) 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
genes like me logo Genes that share compounds with SRD5A2: view

Transcripts 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

No ASD Table

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 (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



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 expression patterns with SRD5A2: view

Protein tissue co-expression partners for SRD5A2 Gene

Primer Products

In Situ Assay Products

Orthologs for SRD5A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRD5A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SRD5A2 35
  • 89.63 (n)
  • 85.83 (a)
dog
(Canis familiaris)
Mammalia SRD5A2 35
  • 88.32 (n)
  • 84.25 (a)
mouse
(Mus musculus)
Mammalia Srd5a2 35
  • 81.1 (n)
  • 75.2 (a)
Srd5a2 16
chimpanzee
(Pan troglodytes)
Mammalia SRD5A2 35
  • 97.11 (n)
  • 94.88 (a)
rat
(Rattus norvegicus)
Mammalia Srd5a2 35
  • 80.58 (n)
  • 77.56 (a)
chicken
(Gallus gallus)
Aves SRD5A2 35
  • 68.25 (n)
  • 65.87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia srd5a2 35
  • 58.91 (n)
  • 55.81 (a)
zebrafish
(Danio rerio)
Actinopterygii srd5a2a 35
  • 58.3 (n)
  • 55.06 (a)
wufk70d02 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7002 35
worm
(Caenorhabditis elegans)
Secernentea F19H6.4 37
  • 41 (a)
F42F12.3 37
  • 41 (a)
ZK1251.3 37
  • 38 (a)
F19H6.4 35
  • 51.28 (n)
  • 43.44 (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

Paralogs for SRD5A2 Gene

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

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

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 (PubMed:10501358). The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme (PubMed:10501358).

Sequence variations from dbSNP and Humsavar for SRD5A2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_005609 Pseudovaginal perineoscrotal hypospadias (PPSH)
rs9282858 - 31,580,756(-) TGCCA(A/G)CCCRC intron-variant, reference, missense
VAR_013105 Pseudovaginal perineoscrotal hypospadias (PPSH)
VAR_013106 Pseudovaginal perineoscrotal hypospadias (PPSH)
VAR_013108 Pseudovaginal perineoscrotal hypospadias (PPSH)

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

No data available for Variation tolerance for SRD5A2 Gene

Disorders for SRD5A2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SRD5A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudovaginal perineoscrotal hypospadias
  • 5-ard deficiency
steroid 5-alpha-reductase deficiency
  • pseudovaginal perineoscrotal hypospadias
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
prostate cancer
  • prostate cancer, hereditary, 5
hypospadias
  • familial hypospadias
- 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: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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRD5A2
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. (J. Clin. Endocrinol. Metab. 2003) 3 4 23 48 67
  2. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PMID: 16818707) Xu Y. … Isaacs J.T. (Clin. Cancer Res. 2006) 3 23 25 26
  3. 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
  4. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PMID: 1522235) Thigpen A.E. … Russell D.W. (J. Clin. Invest. 1992) 2 3 23
  5. Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE review. (PMID: 19914946) Li J. … Khoury M.J. (Am. J. Epidemiol. 2010) 3 23

Products for SRD5A2 Gene

Sources for SRD5A2 Gene

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