Ehd2 MGI Mouse Gene Detail - MGI:2154274

Symbol

Ehd2
Name

EH-domain containing 2
Synonyms

C130052H20Rik, MGC:25606, MGC:38650

Feature Type

protein coding gene
IDs

MGI:2154274
NCBI Gene: 259300
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr7:15680883-15701402 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 8.65 cM
Mapping Data

4 experiments

SNPs within 2kb

584 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2154274	protein coding gene	Chr7:15680883-15701492 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0031695	protein coding gene	Chr7:13591481-13612081 (-)
A/J	MGP_AJ_G0031667	protein coding gene	Chr7:13406185-13426708 (-)
AKR/J	MGP_AKRJ_G0031592	protein coding gene	Chr7:13696256-13716827 (-)
BALB/cJ	MGP_BALBcJ_G0031674	protein coding gene	Chr7:13506060-13526609 (-)
C3H/HeJ	MGP_C3HHeJ_G0031396	protein coding gene	Chr7:13872993-13894451 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0032140	protein coding gene	Chr7:14333278-14353916 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029219	protein coding gene	Chr7:14962727-14983840 (-)
CAST/EiJ	MGP_CASTEiJ_G0030747	protein coding gene	Chr7:10643878-10665959 (-)
CBA/J	MGP_CBAJ_G0031355	protein coding gene	Chr7:14785054-14805718 (-)
DBA/2J	MGP_DBA2J_G0031511	protein coding gene	Chr7:13293970-13314553 (-)
FVB/NJ	MGP_FVBNJ_G0031467	protein coding gene	Chr7:13174088-13195214 (-)
LP/J	MGP_LPJ_G0031596	protein coding gene	Chr7:13867058-13889310 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031502	protein coding gene	Chr7:14770170-14791716 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032169	protein coding gene	Chr7:13477815-13498304 (-)
PWK/PhJ	MGP_PWKPhJ_G0030471	protein coding gene	Chr7:10797901-10819355 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0030299	protein coding gene	Chr7:8402607-8424670 (-)
WSB/EiJ	MGP_WSBEiJ_G0030844	protein coding gene	Chr7:13514480-13538309 (-)

Human Ortholog

EHD2, EH domain containing 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EHD2, EH domain containing 2
Synonyms

PAST2
Links

HGNC:3243

NCBI Gene ID: 30846

neXtProt AC: NX_Q9NZN4

UniProt: Q9NZN4
Chr Location

19q13.33; chr19:47713422-47743134 (+) GRCh38

MGI Vertebrate Homology

Ehd2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EHD2
Gene Tree

Ehd2

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

10
Endonuclease-mediated

4
Gene trapped

4
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozgyous for a null allele exhibit increased lipid accumulation in adipocytes with increased caveolae cycling.

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All GO Annotations

39
GO References

13

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

727
Tissues

16
cDNA Data

15
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ehd2

ZFIN ehd2a, ehd2b

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All Sequences

51
RefSeq

6
UniProt

4
CCDS

CCDS20842.1

Ensembl

ENSMUSG00000074364 (Evidence)
NCBI Gene

259300

			Length	Strain/Species	Flank
genomic	259300	NCBI Gene Model \| MGI Sequence Detail	20520	C57BL/6J	± kb
transcript	NM_001419313	RefSeq \| MGI Sequence Detail	5060	ZRU/MplStud
polypeptide	Q8BH64	UniProt \| EBI \| MGI Sequence Detail	543	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000006943 EH domain-containing protein 2

(term hierarchy)
PDB

2QPT, 4CID
InterPro Domains

IPR040990 Domain of unknown function DUF5600

IPR045063 Dynamin, N-terminal

IPR030381 Dynamin-type guanine nucleotide-binding (G) domain

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain

IPR031692 EH domain-containing protein, N-terminal

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR051943 TRAFAC Dynamin-like GTPase
GlyGen

Q8BH64 1 site, 1 O-linked glycan (1 site)

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All nucleic 20

Genomic 3

cDNA 15

Primer pair 1

Other 1

Microarray probesets 6

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MGI:2387219, MGI:2443299

Summaries

All 50

Developmental Gene Expression 3

Gene Ontology 13

Phenotypes 12
Earliest

J:76561 Chae TH, et al., Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome. 2002 May;13(5):239-44
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ehd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr70696	Chr7:15701395-15701409 (-)	0 bp
Tssr70695	Chr7:15698297-15698352 (-)	3,077 bp
Tssr70694	Chr7:15693743-15693757 (-)	7,652 bp
Tssr70693	Chr7:15693709-15693720 (-)	7,687 bp
Tssr70692	Chr7:15693477-15693491 (-)	7,918 bp
Tssr70691	Chr7:15684207-15684246 (-)	17,175 bp
Tssr70690	Chr7:15684013-15684017 (-)	17,387 bp
Tssr70689	Chr7:15683952-15683968 (-)	17,442 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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