Steroid 5-Alpha-Reductase 2

Alternative Names

  • SRD5A2
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OMIM Number

607306

NCBI Gene ID

6716

Uniprot ID

P31213

Length

178,305 bases

No. of Exons

10

No. of isoforms

1

Protein Name

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

Molecular Mass

28393 Da

Amino Acid Count

245

Genomic Location

chr2:31,522,480-31,700,784

Gene Map Locus
2p23.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000348.4:c.164T>ALebanonchr2:31580737PathogenicPseudovaginal Perineoscrotal HypospadiasNG_008365.1:g.5235T>A; NM_000348.4:c.164T>A; NP_000339.2:p.Leu55Gln1214342453339
NM_000348.4:c.354C>AUnited Arab EmiratesNC_000002.12:g.31533694G>TPseudovaginal Perineoscrotal HypospadiasNG_008365.1:g.52278C>A; NM_000348.4:c.354C>A; NP_000339.2:p.Phe118Leu753942411

Other Reports

Lebanon

El Ezzi et al. 2014 investigated the potential association between single nucleotide polymorphisms in VDR, CYP17, and SRD5A2 genes and the risk of developing benign prostate hyperplasia (BPH) among Lebanese men. 68 men with confirmed BPH and 79 age-matched controls were included in the study. ApaI A allele and BsmI B allele of the VDR gene were more common among BPH patients compared to the controls and these two alleles were observed to be significantly associated with increased risk of developing BPH. Although not statistically significant, FokI F allele of the VDR gene and MspA1I allele of the CYP17 gene were found to be likely risk factors for BPH.

United Arab Emirates

Deeb et al. 2016 analysed a large Emirati kindred where 11 members were born with varying degrees of genital ambiguity. The index patient presented with severe undervirilization with bilaterally palpable gonads. He was raised as male from birth and underwent masculinising surgery. Analysis of the SRD5A2 gene identified a novel homozygous deletion of exon 2. His parents were found to be heterozygous for the mutation. 

 

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