Ehd4 MGI Mouse Gene Detail - MGI:1919619

Symbol

Ehd4
Name

EH-domain containing 4
Synonyms

2210022F10Rik

Feature Type

protein coding gene
IDs

MGI:1919619
NCBI Gene: 98878
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:119919958-119985028 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.16 cM
Mapping Data

2 experiments

SNPs within 2kb

1513 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919619	protein coding gene	Chr2:119919656-119985087 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026360	protein coding gene	Chr2:122945246-123014403 (-)
A/J	MGP_AJ_G0026321	protein coding gene	Chr2:117906317-117973069 (-)
AKR/J	MGP_AKRJ_G0026300	protein coding gene	Chr2:121194602-121260632 (-)
BALB/cJ	MGP_BALBcJ_G0026334	protein coding gene	Chr2:118145553-118213090 (-)
C3H/HeJ	MGP_C3HHeJ_G0026080	protein coding gene	Chr2:121662460-121730119 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026781	protein coding gene	Chr2:126956303-127021732 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024161	protein coding gene	Chr2:112928176-112996211 (-)
CAST/EiJ	MGP_CASTEiJ_G0025542	protein coding gene	Chr2:121977944-122047530 (-)
CBA/J	MGP_CBAJ_G0026056	protein coding gene	Chr2:131389887-131458221 (-)
DBA/2J	MGP_DBA2J_G0026195	protein coding gene	Chr2:117295273-117361362 (-)
FVB/NJ	MGP_FVBNJ_G0026157	protein coding gene	Chr2:116130660-116196915 (-)
LP/J	MGP_LPJ_G0026296	protein coding gene	Chr2:123201477-123268150 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026176	protein coding gene	Chr2:135702937-135771291 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026836	protein coding gene	Chr2:121316730-121384683 (-)
PWK/PhJ	MGP_PWKPhJ_G0025278	protein coding gene	Chr2:116894517-116962024 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025077	protein coding gene	Chr2:120515407-120580794 (-)
WSB/EiJ	MGP_WSBEiJ_G0025611	protein coding gene	Chr2:122158723-122224867 (-)

Human Ortholog

EHD4, EH domain containing 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EHD4, EH domain containing 4
Synonyms

PAST4
Links

HGNC:3245

NCBI Gene ID: 30844

neXtProt AC: NX_Q9H223

UniProt: Q9H223
Chr Location

15q15.1; chr15:41895933-41972557 (-) GRCh38

MGI Vertebrate Homology

Ehd4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EHD4
Gene Tree

Ehd4

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Phenotype Summary

16 phenotypes from 1 allele in 1 genetic background
21 phenotypes from multigenic genotypes
8 images
14 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

11
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Ehd4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit reduced male fertility.

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All GO Annotations

39
GO References

10

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

757
Tissues

18
cDNA Data

106
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 ehd4

ZFIN ehd4

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All Sequences

71
RefSeq

10
UniProt

7
CCDS

CCDS16615.1

Ensembl

ENSMUSG00000027293 (Evidence)
NCBI Gene

98878

			Length	Strain/Species	Flank
genomic	98878	NCBI Gene Model \| MGI Sequence Detail	65071	C57BL/6J	± kb
transcript	NR_184851	RefSeq \| MGI Sequence Detail	3363	C57BL/6
polypeptide	Q9EQP2	UniProt \| EBI \| MGI Sequence Detail	541	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000006945 EH domain-containing protein 4

(term hierarchy)
PDB

5MTV, 5MVF, 7SOX
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
GlyGen

Q9EQP2 1 site, 1 O-linked glycan (1 site)

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All nucleic 106

cDNA 106

Microarray probesets 5

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MGI:2138861, MGI:2139070, MGI:2139230

Summaries

All 51

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:256893 Iseka FM, et al., Role of the EHD Family of Endocytic Recycling Regulators for TCR Recycling and T Cell Function. J Immunol. 2018 Jan 15;200(2):483-499

TSS for Ehd4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25840	Chr2:119985081-119985092 (-)	-59 bp
Tssr25839	Chr2:119984993-119985071 (-)	-4 bp
Tssr25838	Chr2:119984967-119984979 (-)	55 bp
Tssr25837	Chr2:119968084-119968090 (-)	16,941 bp
Tssr25836	Chr2:119967948-119967974 (-)	17,067 bp
Tssr25835	Chr2:119921489-119921503 (-)	63,532 bp
Tssr25834	Chr2:119920552-119920568 (-)	64,468 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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