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SRD5A2

Chr 2p23.1

steroid 5 alpha-reductase 2

MANE:
ENST00000622030.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Differences in sex development

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

    0.84
  • androgenetic alopecia

    0.70
  • benign prostatic hyperplasia

    0.63
  • prostate carcinoma

    0.62
  • prostate cancer

    0.57
  • hypotrichosis

    0.46
  • alopecia

    0.42
  • Micropenis

    0.42
  • hypogonadism

    0.41
  • prostate neoplasm

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

3-oxo-5-alpha-steroid 4-dehydrogenase 2

Catalyzes the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms (PubMed:10898110, PubMed:23685396). Converts testosterone into 5-alpha-dihydrotestosterone (DHT), the most active androgen in the prostate, as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development (PubMed:10898110, PubMed:23685396). Besides testosterone, it can also act on other steroids, including progesterone, producing metabolites with diverse roles (PubMed:10898110). Hence, it plays a central role in sexual differentiation and androgen physiology (PubMed:10898110)

Curated MONDO disease pages that list SRD5A2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.