SRD5A2
3-oxo-5-alpha-steroid 4-dehydrogenase 2
Also known as: S5A2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31213
- Gene
- SRD5A2
- Ensembl
- ENSG00000277893
- Chromosome
- 2
- Canonical length
- 254 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
254 residues, UniProt reviewed canonical sequence.
>P31213|SRD5A2
1 MQVQCQQSPV LAGSATLVAL GALALYVAKP SGYGKHTESL KPAATRLPAR AAWFLQELPS
61 FAVPAGILAR QPLSLFGPPG TVLLGLFCLH YFHRTFVYSL LNRGRPYPAI LILRGTAFCT
121 GNGVLQGYYL IYCAEYPDGW YTDIRFSLGV FLFILGMGIN IHSDYILRQL RKPGEISYRI
181 PQGGLFTYVS GANFLGEIIE WIGYALATWS LPALAFAFFS LCFLGLRAFH HHRFYLKMFE
241 DYPKSRKALI PFIFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SRD5A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 57 nTPM
Expression across tissuesHPA
Tissue
- liver: 57 nTPM
- epididymis: 22 nTPM
- fallopian tube: 19 nTPM
- seminal vesicle: 17 nTPM
- prostate: 16 nTPM
- vagina: 1.8 nTPM
Single-cell type
- prostatic club cells: 144 nCPM
- early spermatids: 97 nCPM
- fallopian tube ciliated cells: 90 nCPM
- late spermatids: 85 nCPM
- epididymal principal cells: 47 nCPM
- hepatocytes: 43 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 2.2 nTPM
- basal ganglia: 0.1 nTPM
- cerebellum: 0.1 nTPM
- hypothalamus: 0.1 nTPM
- medulla oblongata: 0.1 nTPM
- thalamus: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SRD5A2.
Disease | AllUniProt
Conditions SRD5A2 is implicated in, by any mechanism.
- Pseudovaginal perineoscrotal hypospadias (PPSH) MIM:264600
Disease | GeneticClinVar
97 pathogenic / likely-pathogenic of 337 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- SRD5A2-related disorder
- Differences in sex development
- Micropenis
- Urogenital tract malformation
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- androgen biosynthetic process
- androgen metabolic process
- biphenyl metabolic process
- bone development
- cell differentiation
- cell-cell signaling
- dibenzo-p-dioxin metabolic process
- female genitalia development
- hippocampus development
- hypothalamus development
- male genitalia development
- male gonad development
- response to biphenyl
- response to follicle-stimulating hormone
- response to nutrient levels
- response to peptide hormone
- response to steroid hormone
- response to testosterone
- response to xenobiotic stimulus
- steroid catabolic process
- testosterone biosynthetic process
- phthalate metabolic process
Molecular functions
- 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity
- 3-oxo-5-alpha-steroid 4-dehydrogenase activity
- amide binding
- testosterone dehydrogenase (NADP+) activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SRD5A2 as an antibody target. Whether an autoantibody or antibody against SRD5A2 could matter depends on whether native SRD5A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SRD5A2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SRD5A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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