Hsd17b2 MGI Mouse Gene Detail - MGI:1096386 - hydroxysteroid (17-beta) dehydrogenase 2

Symbol

Hsd17b2
Name

hydroxysteroid (17-beta) dehydrogenase 2
Synonyms

17 HSD type 2

Feature Type

protein coding gene
IDs

MGI:1096386
NCBI Gene: 15486
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr8:118428643-118485766 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 64.82 cM
Mapping Data

3 experiments

SNPs within 2kb

1450 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1096386	protein coding gene	Chr8:118427752-118485767 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034176	protein coding gene	Chr8:120911990-120982095 (+)
A/J	MGP_AJ_G0034156	protein coding gene	Chr8:115959867-116017208 (+)
AKR/J	MGP_AKRJ_G0034083	protein coding gene	Chr8:119332144-119394352 (+)
BALB/cJ	MGP_BALBcJ_G0034150	protein coding gene	Chr8:116157095-116216040 (+)
C3H/HeJ	MGP_C3HHeJ_G0033861	protein coding gene	Chr8:120061773-120123959 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034670	protein coding gene	Chr8:124977891-125057046 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031612	protein coding gene	Chr8:108884621-108945438 (+)
CAST/EiJ	MGP_CASTEiJ_G0033188	protein coding gene	Chr8:119943800-120007430 (+)
CBA/J	MGP_CBAJ_G0033834	protein coding gene	Chr8:129528287-129598203 (+)
DBA/2J	MGP_DBA2J_G0033990	protein coding gene	Chr8:115185199-115242872 (+)
FVB/NJ	MGP_FVBNJ_G0033933	protein coding gene	Chr8:114199960-114257183 (+)
LP/J	MGP_LPJ_G0034079	protein coding gene	Chr8:121044443-121110022 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033980	protein coding gene	Chr8:132077222-132143057 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034688	protein coding gene	Chr8:119449584-119515100 (+)
PWK/PhJ	MGP_PWKPhJ_G0032890	protein coding gene	Chr8:114907350-114972406 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032730	protein coding gene	Chr8:118162176-118228398 (+)
WSB/EiJ	MGP_WSBEiJ_G0033304	protein coding gene	Chr8:120150629-120216301 (+)

Human Ortholog

HSD17B2, hydroxysteroid 17-beta dehydrogenase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HSD17B2, hydroxysteroid 17-beta dehydrogenase 2
Synonyms

EDH17B2, HSD17, SDR9C2
Links

HGNC:5211

NCBI Gene ID: 3294

neXtProt AC: NX_P37059

UniProt: P37059
Chr Location

16q23.3; chr16:82035004-82098534 (+) GRCh38

MGI Vertebrate Homology

Hsd17b2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HSD17B2
Gene Tree

Hsd17b2

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Phenotype Summary

30 phenotypes from 1 allele in 1 genetic background
4 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

5
Gene trapped

3
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney.

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All GO Annotations

24
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

773
Tissues

30
cDNA Data

40
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hsd17b2

ZFIN hsd17b2

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All Sequences

42
RefSeq

4
UniProt

3
CCDS

CCDS40491.1

Ensembl

ENSMUSG00000031844 (Evidence)
NCBI Gene

15486

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031844	Ensembl Gene Model \| MGI Sequence Detail	57124	C57BL/6J	± kb
transcript	ENSMUST00000034304	Ensembl \| MGI Sequence Detail	1320	Not Applicable
polypeptide	ENSMUSP00000034304	Ensembl \| MGI Sequence Detail	381	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000008779 17-beta-hydroxysteroid dehydrogenase type 2

(term hierarchy)
EC

1.1.1.239, 1.1.1.62
InterPro Domains

IPR036291 NAD(P)-binding domain superfamily

IPR020904 Short-chain dehydrogenase/reductase, conserved site

IPR002347 Short-chain dehydrogenase/reductase SDR
GlyGen

P51658 1 site, 1 O-linked glycan (1 site)

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All nucleic 42

cDNA 40

Primer pair 2

Microarray probesets 4

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MGI:2142476, MGI:2142477, MGI:2142485

Summaries

All 42

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 4
Earliest

J:41672 Mustonen MVJ, et al., Cloning of mouse 17beta-hydroxysteroid dehydrogenase type 2, and analysing expression of the mRNAs for types 1, 2, 3, 4 and 5 in mouse embryos and adult tissues. Biochem J. 1997 Jul 1;325(Pt 1):199-205
Latest

J:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16

TSS for Hsd17b2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr79641	Chr8:118427746-118427793 (+)	-873 bp
Tssr79642	Chr8:118427803-118427823 (+)	-830 bp
Tssr79643	Chr8:118428559-118428589 (+)	-69 bp
Tssr79644	Chr8:118428676-118428695 (+)	43 bp
Tssr79645	Chr8:118428795-118428800 (+)	155 bp
Tssr79646	Chr8:118428928-118428939 (+)	291 bp
Tssr79647	Chr8:118465805-118465806 (+)	37,163 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)
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