Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hsd3b2provided by MGI
Official Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2provided by MGI
Primary source: MGI:MGI:96234
See related: Ensembl:ENSMUSG00000063730 AllianceGenome:MGI:96234
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 3-beta-HSD II
Summary: Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. Predicted to be involved in several processes, including hippocampus development; response to corticosterone; and steroid hormone biosynthetic process. Predicted to be located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in liver. Human ortholog(s) of this gene implicated in hypertension and hypospadias. Orthologous to human HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) and HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 19.0), liver adult (RPKM 15.5) and 3 other tissues See more
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Genomic context

Location:: 3 F2.2; 3 42.85 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (98618423..98631859, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (98711107..98724543, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

molecular chaperone-assisted folding of 3-beta hydroxysteroid dehydrogenase-2 is a physiological requirement
Title: Chaperones rejuvenate folding and activity of 3-β hydroxysteroid dehydrogenase 2.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-15e7 (e-PCR)
- UniSTS:257310

px-31f3 (e-PCR)
- UniSTS:257585

PMC151786P1 (e-PCR)
- UniSTS:271173

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257097

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257098

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:257099

UniSTS:495977 (e-PCR)
- UniSTS:495977

Avpr1b (e-PCR), detects polymorphism
- UniSTS:495977

px-45f3 (e-PCR)
- UniSTS:258415

Hsd3b2 (e-PCR), detects polymorphism
- UniSTS:256372

UniSTS:256890 (e-PCR)
- UniSTS:256890

Hsd3b1 (e-PCR), detects polymorphism
- UniSTS:256890

px-72g5 (e-PCR)
- UniSTS:258181

px-24g4 (e-PCR)
- UniSTS:257458

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables cholesterol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
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 steroid delta-isomerase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in C21-steroid hormone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in C21-steroid hormone metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in androgen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in hippocampus development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of iron ion transport	ISO Inferred from Sequence Orthology more info
involved_in response to corticosterone	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: 3 beta-hydroxysteroid dehydrogenase 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; hydroxysteroid dehydrogenase-2, delta<5>-3-beta

NP_001346670.1

EC 1.1.1.145

EC 5.3.3.1

NP_694873.2

EC 1.1.1.145

EC 5.3.3.1

XP_011238327.1

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.

mRNA and Protein(s)

NM_001359741.1 → NP_001346670.1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Status: VALIDATED

Source sequence(s)

AL606755, BX639392

Consensus CDS

CCDS17667.1

UniProtKB/Swiss-Prot

B1ARN7, P26149, Q8R0J6

UniProtKB/TrEMBL

Q76CU3, Q7TPU0

Related

ENSMUSP00000102636.2, ENSMUST00000107022.8

Conserved Domains (1) summary

cl25409
Location:5 → 357

SDR; Short-chain dehydrogenases/reductases (SDR)
NM_153193.3 → NP_694873.2 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

See identical proteins and their annotated locations for NP_694873.2

Status: VALIDATED

Source sequence(s)

AL606755, BX639392

Consensus CDS

CCDS17667.1

UniProtKB/Swiss-Prot

B1ARN7, P26149, Q8R0J6

UniProtKB/TrEMBL

Q76CU3, Q7TPU0

Related

ENSMUSP00000102635.2, ENSMUST00000107021.8

Conserved Domains (1) summary

cl25409
Location:5 → 357

SDR; Short-chain dehydrogenases/reductases (SDR)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

98618423..98631859 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240025.3 → XP_011238327.1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 isoform X1

UniProtKB/TrEMBL

Q76CU3, Q7TPU0

Conserved Domains (1) summary

cl21454
Location:14 → 316

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins