Hsd11b2 MGI Mouse Gene Detail - MGI:104720 - hydroxysteroid 11-beta dehydrogenase 2

Symbol

Hsd11b2
Name

hydroxysteroid 11-beta dehydrogenase 2
Synonyms

11(beta)-HSD2, 11HSD2

Feature Type

protein coding gene
IDs

MGI:104720
NCBI Gene: 15484
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr8:106245387-106250620 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 53.04 cM
Mapping Data

3 experiments

SNPs within 2kb

146 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104720	protein coding gene	Chr8:106245378-106250620 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034048	protein coding gene	Chr8:107806258-107811367 (+)
A/J	MGP_AJ_G0034029	protein coding gene	Chr8:103499116-103504374 (+)
AKR/J	MGP_AKRJ_G0033955	protein coding gene	Chr8:106492150-106497270 (+)
BALB/cJ	MGP_BALBcJ_G0034022	protein coding gene	Chr8:103683308-103688459 (+)
C3H/HeJ	MGP_C3HHeJ_G0033734	protein coding gene	Chr8:107236229-107241966 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034542	protein coding gene	Chr8:111753897-111760767 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031484	protein coding gene	Chr8:96643373-96648643 (+)
CAST/EiJ	MGP_CASTEiJ_G0033060	protein coding gene	Chr8:106735028-106740259 (+)
CBA/J	MGP_CBAJ_G0033707	protein coding gene	Chr8:115366771-115371884 (+)
DBA/2J	MGP_DBA2J_G0033862	protein coding gene	Chr8:102843840-102848920 (+)
FVB/NJ	MGP_FVBNJ_G0033808	protein coding gene	Chr8:101773247-101779045 (+)
LP/J	MGP_LPJ_G0033953	protein coding gene	Chr8:108011267-108016639 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033851	protein coding gene	Chr8:118567026-118572278 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034560	protein coding gene	Chr8:106463468-106468590 (+)
PWK/PhJ	MGP_PWKPhJ_G0032761	protein coding gene	Chr8:102235333-102240606 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032602	protein coding gene	Chr8:105138664-105143923 (+)
WSB/EiJ	MGP_WSBEiJ_G0033176	protein coding gene	Chr8:107121462-107126686 (+)

Human Ortholog

HSD11B2, hydroxysteroid 11-beta dehydrogenase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HSD11B2, hydroxysteroid 11-beta dehydrogenase 2
Synonyms

AME, AME1, HSD11K, HSD2, SDR9C3
Links

HGNC:5209

NCBI Gene ID: 3291

neXtProt AC: NX_P80365

UniProt: P80365
Chr Location

16q22.1; chr16:67429801-67437553 (+) GRCh38

MGI Vertebrate Homology

Hsd11b2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HSD11B2
Gene Tree

Hsd11b2

Diseases

5 with human HSD11B2 associations

				Human Disease	Mouse Models
				apparent mineralocorticoid excess syndrome IDs apparent mineralocorticoid excess syndrome DOID:4367 MESH:D043204 NCI:C123231 OMIM:218030 ORDO:320 UMLS_CUI:C0342488
				hypertension IDs hypertension DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				inherited metabolic disorder IDs inherited metabolic disorder DOID:655 MESH:D008661 NCI:C34816 UMLS_CUI:C0025521
				obesity IDs obesity DOID:9970 EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C159658 OMIM:601665 UMLS_CUI:C0028754
				type 1 diabetes mellitus IDs type 1 diabetes mellitus DOID:9744 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 UMLS_CUI:C0011854

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

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Phenotype Summary

18 phenotypes from 1 allele in 1 genetic background
4 phenotypes from multigenic genotypes
2 images
223 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

8
Targeted

7
Transgenic

1
Genomic Mutations

1 involving Hsd11b2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

About half of all mice homozygous for disruptions in this gene die within 48 hours of birth. Survivors are subject to sudden unexplained deaths when between 2 and 4 months of age. They are hypertensive with dilute urine and are hypokalemic and hypochloremic.

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All GO Annotations

22
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

1016
Tissues

122
cDNA Data

33
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hsd11b2

ZFIN hsd11b2

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All Sequences

33
RefSeq

2
UniProt

3
CCDS

CCDS40460.1

Ensembl

ENSMUSG00000031891 (Evidence)
NCBI Gene

15484

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031891	Ensembl Gene Model \| MGI Sequence Detail	5234	C57BL/6J	± kb
transcript	ENSMUST00000034363	Ensembl \| MGI Sequence Detail	1840	Not Applicable
polypeptide	ENSMUSP00000034363	Ensembl \| MGI Sequence Detail	386	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000008772 11-beta-hydroxysteroid dehydrogenase type 2

(term hierarchy)
EC

1.1.1.-
InterPro Domains

IPR036291 NAD(P)-binding domain superfamily

IPR020904 Short-chain dehydrogenase/reductase, conserved site

IPR002347 Short-chain dehydrogenase/reductase SDR

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All nucleic 37

Genomic 1

cDNA 33

Primer pair 3

Microarray probesets 3

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MGD-MRK-27083

Summaries

All 274

Developmental Gene Expression 16

Gene Ontology 7

Phenotypes 223
Earliest

J:29215 Cole TJ, Cloning of the mouse 11 beta-hydroxysteroid dehydrogenase type 2 gene: tissue specific expression and localization in distal convoluted tubules and collecting ducts of the kidney. Endocrinology. 1995 Oct;136(10):4693-6
Latest

J:353959 Aitken TJ, et al., Negative feedback control of hypothalamic feeding circuits by the taste of food. Neuron. 2024 Aug 13;

TSS for Hsd11b2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79150	Chr8:106245368-106245385 (+)	-10 bp
Tssr79151	Chr8:106245516-106245549 (+)	146 bp
Tssr79152	Chr8:106245561-106245579 (+)	183 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