SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRD5A2provided by HGNC
Official Full Name: steroid 5 alpha-reductase 2provided by HGNC
Primary source: HGNC:HGNC:11285
See related: Ensembl:ENSG00000277893 MIM:607306; AllianceGenome:HGNC:11285
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Biased expression in liver (RPKM 13.3), prostate (RPKM 8.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (31522480..31663009, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (31567195..31707768, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (31747550..31806007, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Title: In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Two genetic variants in the SRD5A2 gene are found to be associated with sex differences in the disease characteristics of patients with chronic hepatitis B virus infection.
Title: Two genetic variants in the SRD5A2 gene are found to be associated with sex differences in the disease characteristics of patients with chronic hepatitis B virus infection.
The Genotype-Phenotype Correlation in Human 5alpha-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Title: The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Fertility potential in 5alpha-reductase type 2 deficient males.
Title: Fertility potential in 5α-reductase type 2 deficient males.
Upregulation of mir-1199-5p is associated with reduced type 2 5-alpha reductase expression in benign prostatic hyperplasia.
Title: Upregulation of mir-1199-5p is associated with reduced type 2 5-α reductase expression in benign prostatic hyperplasia.
Clinical, Hormonal, and Genetic Characteristics of 5alpha-Reductase Type 2 Deficiency in 103 Chinese Patients.
Title: Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Title: Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Title: Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
The association between missense polymorphisms in SRD5A2 and HSD3B1 and treatment failure with abiraterone for castration-resistant prostate cancer.
Title: The association between missense polymorphisms in SRD5A2 and HSD3B1 and treatment failure with abiraterone for castration-resistant prostate cancer.
Genome analyses and androgen quantification for an infant with 5alpha-reductase type 2 deficiency.
Title: Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (181)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency MedGen: C0268297 OMIM: 264600 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of steroid-5-alpha-reductase, alpha polypeptide 2 (SRD5A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SRD5A2_256 (e-PCR)
- UniSTS:277769

GDB:197081 (e-PCR)
- UniSTS:155924

NoName (e-PCR)
- UniSTS:482086

WI-9246 (e-PCR)
- UniSTS:38974

NoName (e-PCR)
- UniSTS:488041

G10662 (e-PCR)
- UniSTS:69284

STS-M74047 (e-PCR)
- UniSTS:8623

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS Traceable Author Statement more info
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables amide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables testosterone dehydrogenase [NAD(P)] activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	TAS Traceable Author Statement more info
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in biphenyl metabolic process	IEA Inferred from Electronic Annotation more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in dibenzo-p-dioxin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in female genitalia development	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus development	IEA Inferred from Electronic Annotation more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phthalate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to follicle-stimulating hormone	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in testosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 3-oxo-5-alpha-steroid 4-dehydrogenase 2

Names: 5 alpha-SR2; S5AR 2; SR type 2; steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2); type II 5-alpha reductase

NP_000339.2

EC 1.3.1.22

XP_011531371.1

EC 1.3.1.22

XP_011531374.1

EC 1.3.1.22

XP_054199524.1

EC 1.3.1.22

XP_054199525.1

EC 1.3.1.22

XP_054199526.1

EC 1.3.1.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008365.2 RefSeqGene

Range

87071..145529

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000348.4 → NP_000339.2 3-oxo-5-alpha-steroid 4-dehydrogenase 2

See identical proteins and their annotated locations for NP_000339.2

Status: REVIEWED

Source sequence(s)

AL133247, BC112252

Consensus CDS

CCDS74503.1

UniProtKB/Swiss-Prot

B2RE87, P31213, Q2M1R4, Q9BYE6

Related

ENSP00000477587.1, ENST00000622030.2

Conserved Domains (1) summary

pfam02544
Location:105 → 254

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

31522480..31663009 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533072.3 → XP_011531374.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X2

See identical proteins and their annotated locations for XP_011531374.1

Conserved Domains (1) summary

pfam02544
Location:20 → 169

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
XM_011533069.3 → XP_011531371.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X1

Conserved Domains (1) summary

pfam02544
Location:31 → 180

Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

31567195..31707768 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343551.1 → XP_054199526.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X2
XM_054343550.1 → XP_054199525.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X3
XM_054343549.1 → XP_054199524.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X1