Skip to content
Use your HSA or FSA funds

Gene

SRD5A2

steroid 5 alpha-reductase 2

Summary

Cytogenetic location
2p23.1
Coordinates
Chromosome 2: 31,522,480–31,580,938 (GRCh38)
Exons
5 exons across 58.5 kb
Protein
254 amino acids
MANE Select transcript
ENST00000622030.2NM_000348.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

How SRD5A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SRD5A2 sits. SRD5A2 and 6 genes near it on chromosome 2, from 31,051,709 to 32,051,708.Chromosome 22p23.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.331.2 Mb31.4 Mb31.6 Mb31.8 Mb32 MbGALNT14: 30,898,696–31,155,202, reverse strandGALNT14CAPN14: 31,173,056–31,234,011, reverse strandCAPN14EHD3: 31,233,943–31,275,384, forward strandEHD3XDH: 31,334,320–31,414,756, reverse strandXDHSRD5A2: 31,522,480–31,580,938, reverse strandSRD5A2MEMO1: 31,865,060–32,011,230, reverse strandMEMO1DPY30: 31,867,809–32,039,832, reverse strandDPY30Diagram of SRD5A2: 5 exons on the reverse strand of chromosome 2Exon 5: 7 known disease-causing sitesExon 4: 23 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 1: 21 known disease-causing sitesExon 5: 31,522,480–31,526,262, 3,783 basesExon 4: 31,529,307–31,529,457, 151 basesExon 3: 31,531,371–31,531,472, 102 basesExon 2: 31,533,603–31,533,766, 164 basesExon 1: 31,580,620–31,580,938, 319 bases543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.5 kb of the gene's 58.5 kb; 765 of those bases code for the protein.

How a genome test reads SRD5A2

79

positions in SRD5A2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 58.5 kb of SRD5A2, introns included, not only the 4.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SRD5A2 gene: steroid 5 alpha-reductase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/srd5a2

Vancouver

Dante Labs. SRD5A2 gene: steroid 5 alpha-reductase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/srd5a2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test