HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSD3B2provided by HGNC
Official Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2provided by HGNC
Primary source: HGNC:HGNC:5218
See related: Ensembl:ENSG00000203859 MIM:613890; AllianceGenome:HGNC:5218
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
Also known as: HSDB; HSD3B; SDR11E2
Summary: The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Expression: Restricted expression toward adrenal (RPKM 1042.2) See more
Orthologs: all
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Genomic context

Location:: 1p12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (119414931..119423034)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (119428182..119436213)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (119957554..119965657)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Title: High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Title: Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Independent silencing of CRY1 and CRY2 genes in HAC15 cells resulted in a mild upregulation of HSD3B2 without affecting HSD3B1 expression. In conclusion, our results support the hypothesis that CRY1 and CRY2, being AngII-regulated genes, and showing a differential expression in APAs when compared with the adjacent adrenal cortex, might be involved in adrenal cell function, and in the regulation of aldosterone production
Title: Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells.
Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutropic endometrium from infertile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos.
Title: HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis.
mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT) and in pediatric virilizing adrenocortical tumors (VAT) were analyzed.
Title: DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex.
Sequencing analyses indicate homozygous p.W355R mutation at exon 4 of the 3 beta-hydroxysteroid dehydrogenase type II (HSD3beta2) gene in both siblings.
Title: Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.
the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 structure and function.
Title: A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases.
Title: Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas.
HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma.
Title: 3β-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma.
Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism.
Title: Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.

Submit: New GeneRIF Correction See all GeneRIFs (51)

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 beta-Hydroxysteroid dehydrogenase deficiency MedGen: C0342471 OMIM: 201810 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSD3B1 (e-PCR)
- UniSTS:479757

SGC35274 (e-PCR)
- UniSTS:8997

HSD3B (e-PCR)
- UniSTS:254020

GDB:270565 (e-PCR)
- UniSTS:156354

SHGC-75401 (e-PCR)
- UniSTS:22987

SHGC-145388 (e-PCR)
- UniSTS:174544

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid delta-isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables steroid delta-isomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in C21-steroid hormone metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in androgen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in steroid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in smooth endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Names: 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD II; 3-beta-HSD adrenal and gonadal type; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; delta 5-delta 4-isomerase type II; progesterone reductase; short chain dehydrogenase/reductase family 11E, member 2

NP_000189.1

EC 1.1.1.145

EC 5.3.3.1

NP_001159592.1

EC 1.1.1.145

EC 5.3.3.1

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_013349.1 RefSeqGene

Range

5220..13104

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000198.4 → NP_000189.1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

See identical proteins and their annotated locations for NP_000189.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK222997, AV705363, BC038419

Consensus CDS

CCDS902.1

UniProtKB/Swiss-Prot

A2RRA5, P26439, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08

UniProtKB/TrEMBL

B2R8L0

Related

ENSP00000358424.3, ENST00000369416.4

Conserved Domains (1) summary

cd09811
Location:4 → 356

3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
NM_001166120.2 → NP_001159592.1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

See identical proteins and their annotated locations for NP_001159592.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' non-coding exon, hence differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK222997, BC038419, BP197992

Consensus CDS

CCDS902.1

UniProtKB/Swiss-Prot

A2RRA5, P26439, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08

UniProtKB/TrEMBL

B2R8L0

Related

ENSP00000445122.1, ENST00000543831.5

Conserved Domains (1) summary

cd09811
Location:4 → 356

3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs