Hsd3b6 MGI Mouse Gene Detail - MGI:109598 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6

Symbol

Hsd3b6
Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6
Synonyms

3beta-HSD VI

Feature Type

protein coding gene
IDs

MGI:109598
NCBI Gene: 15497
Member of

Hsd3b cluster
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr3:98712820-98721759 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 42.88 cM
Mapping Data

1 experiment

SNPs within 2kb

329 from dbSNP Build 142
Strain Annotations

12

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109598	protein coding gene	Chr3:98712820-98721759 (-)
129S1/SvImJ	no annotation
A/J	no annotation
AKR/J	MGP_AKRJ_G0027584	protein coding gene	Chr3:98987256-99000332 (-)
BALB/cJ	MGP_BALBcJ_G0027631	protein coding gene	Chr3:96483336-96494839 (-)
C3H/HeJ	MGP_C3HHeJ_G0027360	protein coding gene	Chr3:99322644-99334412 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028074	protein coding gene	Chr3:103551824-103563966 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025415	protein coding gene	Chr3:92740439-92996947 (-)
CAST/EiJ	no annotation
CBA/J	MGP_CBAJ_G0027335	protein coding gene	Chr3:107239828-107248656 (-)
DBA/2J	MGP_DBA2J_G0027478	protein coding gene	Chr3:95948233-95958036 (-)
FVB/NJ	no annotation
LP/J	MGP_LPJ_G0027585	protein coding gene	Chr3:101214000-101223878 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027474	protein coding gene	Chr3:113235486-113326315 (-)
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	MGP_SPRETEiJ_G0026364	protein coding gene	Chr3:96635073-96706925 (-)
WSB/EiJ	MGP_WSBEiJ_G0026895	protein coding gene	Chr3:98995366-99123567 (-)

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

Hsd3b6 stringent orthology
2 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: HSD3B1, HSD3B2
Gene Tree

Hsd3b6

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

6 phenotypes from 2 alleles in 2 genetic backgrounds
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Hsd3b6
Incidental Mutations

APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice exhibit Meibomian gland atrophy, reduced Meibomian gland cell proliferation, decreased testosterone levels in the Meibomian gland, and evaporative dry eye phenotype with compensatory increase in tear production.

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All GO Annotations

27
GO References

7

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

880
Tissues

124
cDNA Data

25
Literature Summary

20

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA HSD3B1

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All Sequences

31
RefSeq

2
UniProt

4
CCDS

CCDS17669.1

Ensembl

ENSMUSG00000027869 (Evidence)
NCBI Gene

15497

			Length	Strain/Species	Flank
genomic	15497	NCBI Gene Model \| MGI Sequence Detail	8940	C57BL/6J	± kb
transcript	NM_013821	RefSeq \| MGI Sequence Detail	1821	C57BL/6
polypeptide	O35469	UniProt \| EBI \| MGI Sequence Detail	373	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000008870 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6

(term hierarchy)
EC

1.1.1.-, 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

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All nucleic 33

Genomic 1

cDNA 25

Primer pair 7

Microarray probesets 3

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MGD-MRK-39597, MGI:2140104

Summaries

All 55

Developmental Gene Expression 20

Diseases 1

Gene Ontology 7

Phenotypes 6
Earliest

J:33962 Clarke TR, et al., Isolation and characterization of several members of the murine Hsd3b gene family. DNA Cell Biol. 1996 May;15(5):387-99
Latest

J:346630 Zhang X, et al., Maternal RNA transcription in Dlk1-Dio3 domain is critical for proper development of the mouse placental vasculature. Commun Biol. 2024 Mar 23;7(1):363

TSS for Hsd3b6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34706	Chr3:98721750-98721765 (-)	1 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 11/12/2024 MGI 6.24