Hsd3b3 MGI Mouse Gene Detail - MGI:96235 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3

Symbol

Hsd3b3
Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3
Synonyms

9030618K22Rik

Feature Type

protein coding gene
IDs

MGI:96235
NCBI Gene: 15494
Member of

Hsd3b cluster
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr3:98648839-98670443 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 42.86 cM
Mapping Data

6 experiments

SNPs within 2kb

500 from dbSNP Build 142
Strain Annotations

17
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96235	protein coding gene	Chr3:98648792-98672465 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027659	protein coding gene	Chr3:99778104-99808403 (-)
A/J	MGP_AJ_G0027618	protein coding gene	Chr3:96628612-96686551 (-)
AKR/J	MGP_AKRJ_G0027583	protein coding gene	Chr3:98927258-98944318 (-)
BALB/cJ	MGP_BALBcJ_G0027630	protein coding gene	Chr3:96422797-96446340 (-)
C3H/HeJ	MGP_C3HHeJ_G0027359	protein coding gene	Chr3:99275744-99292221 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028073	protein coding gene	Chr3:103456189-103507249 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025414	protein coding gene	Chr3:92740380-92847881 (-)
CAST/EiJ	MGP_CASTEiJ_G0026816	protein coding gene	Chr3:98433779-98456281 (-)
CBA/J	MGP_CBAJ_G0027334	protein coding gene	Chr3:107167777-107194453 (-)
DBA/2J	MGP_DBA2J_G0027477	protein coding gene	Chr3:95887582-95904924 (-)
FVB/NJ	MGP_FVBNJ_G0027446	protein coding gene	Chr3:93866516-93871220 (-)
LP/J	no annotation
NOD/ShiLtJ	MGP_NODShiLtJ_G0027476	protein coding gene	Chr3:113236045-113263517 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028128	protein coding gene	Chr3:98489116-98506814 (-)
PWK/PhJ	MGP_PWKPhJ_G0026541	protein coding gene	Chr3:95657017-95693653 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026365	protein coding gene	Chr3:96658788-96672967 (-)
WSB/EiJ	MGP_WSBEiJ_G0026896	protein coding gene	Chr3:98995367-99068681 (-)

Human Ortholog

HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Synonyms

3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
Links

HGNC:5217

NCBI Gene ID: 3283

neXtProt AC: NX_P14060

UniProt: P14060
Chr Location

1p12; chr1:119507198-119515058 (+) GRCh38

Human Ortholog

HSD3B2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Synonyms

HSD3B, HSDB, SDR11E2
Links

HGNC:5218

NCBI Gene ID: 3284

neXtProt AC: NX_P26439

UniProt: P26439
Chr Location

1p12; chr1:119414931-119423035 (+) GRCh38

MGI Vertebrate Homology

Hsd3b3 stringent orthology
2 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: HSD3B1, HSD3B2
Gene Tree

Hsd3b3

Diseases

2 with human HSD3B1,HSD3B2 associations

				Human Disease	Mouse Models
				hypertension IDs hypertension DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				hypospadias IDs hypospadias DOID:10892 ICD10CM:Q54 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 UMLS_CUI:C0848558

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

5 phenotype references

All Mutations and Alleles

3
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

1
Genomic Mutations

2 involving Hsd3b3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

22 strains or lines available

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All GO Annotations

27
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

783
Tissues

18
cDNA Data

8
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

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All Sequences

54
RefSeq

14
UniProt

4
CCDS

CCDS17668.1, CCDS51016.1

Ensembl

ENSMUSG00000062410 (Evidence)
NCBI Gene

15494

			Length	Strain/Species	Flank
genomic	ENSMUSG00000062410	Ensembl Gene Model \| MGI Sequence Detail	21605	C57BL/6J	± kb
transcript	ENSMUST00000090743	Ensembl \| MGI Sequence Detail	1492	Not Applicable
polypeptide	ENSMUSP00000088246	Ensembl \| MGI Sequence Detail	373	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000008867 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3

(term hierarchy)
EC

1.1.1.145, 5.3.3.1
InterPro Domains

IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase

IPR050177 Bifunctional lipid A modification and metabolic enzymes

IPR036291 NAD(P)-binding domain superfamily
GlyGen

P26150 1 site, 1 O-linked glycan (1 site)

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All nucleic 17

Genomic 2

cDNA 12

Primer pair 3

Microarray probesets 5

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MGD-MRK-10948, MGI:1918777, MGI:2139796

Summaries

All 40

Developmental Gene Expression 3

Diseases 1

Gene Ontology 8

Phenotypes 5
Earliest

J:29466 Bain PA, et al., Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):8870-4
Latest

J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426

TSS for Hsd3b3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34705	Chr3:98667868-98667889 (-)	2,564 bp
Tssr34704	Chr3:98649170-98649182 (-)	21,267 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24