GenTIGS

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) Associated conditions: 1. 3 beta-Hydroxysteroid 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_000198.4	NP_000189.1	NC_000001.11	(119414930..119423033)	Reference GRCh38.p14 Primary Assembly	P26439
2	REVIEWED	NM_001166120.2	NP_001159592.1	NC_000001.11	(119414930..119423033)	Reference GRCh38.p14 Primary Assembly	P26439

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 1105 reference articles

Variant Information Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	3-beta-hydroxy-delta5-steroid dehydrogenase activity	Function	1944309
2	Homo sapiens	IMP	enables	3-beta-hydroxy-delta5-steroid dehydrogenase activity	Function	25322271
3	Homo sapiens	IDA	enables	steroid delta-isomerase activity	Function	1944309
4	Homo sapiens	IMP	enables	steroid delta-isomerase activity	Function	25322271
5	Homo sapiens	IPI	enables	protein binding	Function	32814053
6	Homo sapiens	IDA	located_in	nucleolus	Component	-
7	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
8	Homo sapiens	ISS	located_in	mitochondrial inner membrane	Component	-
9	Homo sapiens	ISS	located_in	mitochondrial intermembrane space	Component	-
10	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	-
11	Homo sapiens	IMP	located_in	endoplasmic reticulum	Component	25322271
12	Homo sapiens	NAS	located_in	endoplasmic reticulum	Component	1944309
13	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
14	Homo sapiens	IBA	involved_in	steroid biosynthetic process	Process	21873635
15	Homo sapiens	IDA	involved_in	steroid biosynthetic process	Process	1944309
16	Homo sapiens	IMP	involved_in	steroid biosynthetic process	Process	25322271
17	Homo sapiens	IMP	involved_in	androgen biosynthetic process	Process	25322271
18	Homo sapiens	IBA	involved_in	C21-steroid hormone metabolic process	Process	21873635
19	Homo sapiens	NAS	located_in	membrane	Component	1944309
20	Homo sapiens	IBA	enables	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	Function	21873635
21	Homo sapiens	IBA	involved_in	hippocampus development	Process	21873635
22	Homo sapiens	ISS	located_in	smooth endoplasmic reticulum membrane	Component	-
23	Homo sapiens	NAS	located_in	mitochondrial membrane	Component	1944309
24	Homo sapiens	IBA	is_active_in	intracellular membrane-bounded organelle	Component	21873635
25	Homo sapiens	IDA	located_in	intercellular bridge	Component	-
26	Homo sapiens	IBA	involved_in	response to corticosterone	Process	21873635
27	Homo sapiens	IEA	enables	cholesterol dehydrogenase activity	Function	-