GenTIGS

Steroid 5 alpha-reductase 2 (SRD5A2) Associated conditions: 1. 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000348.4	NP_000339.2	NC_000002.12	(31522479..31663008, complement)	Reference GRCh38.p14 Primary Assembly	P31213

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1267 reference articles

Variant Information Steroid 5 alpha-reductase 2 (SRD5A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Steroid 5 alpha-reductase 2 (SRD5A2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Steroid 5 alpha-reductase 2 (SRD5A2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	3-oxo-5-alpha-steroid 4-dehydrogenase activity	Function	21873635
2	Homo sapiens	TAS	enables	3-oxo-5-alpha-steroid 4-dehydrogenase activity	Function	-
3	Homo sapiens	IPI	enables	protein binding	Function	32296183
4	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
5	Homo sapiens	IBA	involved_in	steroid biosynthetic process	Process	21873635
6	Homo sapiens	TAS	involved_in	androgen biosynthetic process	Process	-
7	Homo sapiens	IEA	involved_in	steroid catabolic process	Process	-
8	Homo sapiens	TAS	involved_in	cell-cell signaling	Process	1944596
9	Homo sapiens	IDA	involved_in	androgen metabolic process	Process	1944596
10	Homo sapiens	IMP	involved_in	male gonad development	Process	1944596
11	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
12	Homo sapiens	IDA	enables	sterol 5-alpha reductase activity	Function	1944596
13	Homo sapiens	IEA	involved_in	biphenyl metabolic process	Process	-
14	Homo sapiens	IEA	involved_in	dibenzo-p-dioxin metabolic process	Process	-
15	Homo sapiens	IEA	involved_in	phthalate metabolic process	Process	-
16	Homo sapiens	IEA	involved_in	hippocampus development	Process	-
17	Homo sapiens	IEA	involved_in	hypothalamus development	Process	-
18	Homo sapiens	IEA	involved_in	cell differentiation	Process	-
19	Homo sapiens	IDA	enables	testosterone dehydrogenase [NAD(P)] activity	Function	10898110
20	Homo sapiens	IEA	involved_in	male genitalia development	Process	-
21	Homo sapiens	IEA	involved_in	female genitalia development	Process	-
22	Homo sapiens	IEA	involved_in	response to nutrient levels	Process	-
23	Homo sapiens	IEA	involved_in	response to follicle-stimulating hormone	Process	-
24	Homo sapiens	IEA	enables	amide binding	Function	-
25	Homo sapiens	IEA	involved_in	response to testosterone	Process	-
26	Homo sapiens	IEA	located_in	neuronal cell body	Component	-
27	Homo sapiens	IEA	involved_in	response to peptide hormone	Process	-
28	Homo sapiens	IEA	enables	3-oxo-5alpha-steroid 4-dehydrogenase (NADP+)	Function	-
29	Homo sapiens	IEA	involved_in	response to steroid hormone	Process	-
30	Homo sapiens	IEA	involved_in	bone development	Process	-
31	Homo sapiens	IDA	involved_in	testosterone biosynthetic process	Process	10898110
32	Homo sapiens	IEA	located_in	cell body fiber	Component	-