SRD5A2 (P31213) variants and mutations

SRD5A2 (also known as P31213) is a human protein-coding gene encoding a 3-oxo-5-alpha-steroid 4-dehydrogenase 2 protein. It converts testosterone to the more potent androgen dihydrotestosterone in androgen-responsive tissues. Biallelic loss-of-function variants cause 5-alpha-reductase type 2 deficiency, leading to undervirilization of 46,XY individuals and often increased virilization at puberty. This analysis covers 631 SRD5A2 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency, androgenetic alopecia, and benign prostatic hyperplasia. Example SRD5A2 variants include M1T, Q2E, and Q2L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SRD5A2 variants

Examples include M1T, Q2E, Q2L, V3A, V3I, V3L, Q4*, Q4H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.