Ehd2 EH-domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ehd2provided by MGI
Official Full Name: EH-domain containing 2provided by MGI
Primary source: MGI:MGI:2154274
See related: Ensembl:ENSMUSG00000074364 AllianceGenome:MGI:2154274
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C130052H20Rik
Summary: Enables identical protein binding activity and protein domain specific binding activity. Involved in several processes, including plasma membrane tubulation; positive regulation of endocytic recycling; and positive regulation of myoblast fusion. Acts upstream of or within cortical actin cytoskeleton organization and endocytosis. Located in caveola; cytosol; and perinuclear region of cytoplasm. Is expressed in several structures, including brown fat; neural tube; and vascular element. Orthologous to human EHD2 (EH domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in subcutaneous fat pad adult (RPKM 159.7), genital fat pad adult (RPKM 103.2) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A2; 7 8.65 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (15680883..15701402, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (15946963..15967535, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EHD2 regulates plasma membrane integrity and downstream insulin receptor signaling events.
Title: EHD2 regulates plasma membrane integrity and downstream insulin receptor signaling events.
EHD2 overexpression promotes tumorigenesis and metastasis in triple-negative breast cancer by regulating store-operated calcium entry.
Title: EHD2 overexpression promotes tumorigenesis and metastasis in triple-negative breast cancer by regulating store-operated calcium entry.
EHD2-controlled caveolar dynamics orchestrates the activity and regulation of eNOS/nitric oxide and Ca2+ channel localization at the plasma membrane.
Title: eNOS-NO-induced small blood vessel relaxation requires EHD2-dependent caveolae stabilization.
EHD2 may be cardioprotective as a dominant-negative EHD2 mutant sensitized cardiomyocytes to ischemic damage. Our findings highlight EHD2 as a potential pharmacologic target in the treatment of diseases with KATP channel trafficking defects
Title: The trafficking protein, EHD2, positively regulates cardiac sarcolemmal K(ATP) channel surface expression: role in cardioprotection.
EHD1, EHD2, and EHD4 are recruited to caveolae. Recruitment of the other EHDs increases markedly when EHD2, which has been previously detected at caveolae, is absent. Construction of knockout cell lines lacking EHDs 1, 2, and 4 confirms this apparent functional redundancy.
Title: EHD Proteins Cooperate to Generate Caveolar Clusters and to Maintain Caveolae during Repeated Mechanical Stress.
The regulatory N-terminal residues and the EH domain keep the EHD2 dimer in an autoinhibited conformation in solution. By significantly advancing the use of infrared reflection-absorption spectroscopy, we demonstrate that EHD2 adopts an open conformation by tilting the helical domains upon membrane binding.
Title: EHD2 restrains dynamics of caveolae by an ATP-dependent, membrane-bound, open conformation.
The helical domain of EHD2 is inserted into the membrane.The N terminus domain regulates caveolar targeting of EHD2.
Title: Structural insights into membrane interaction and caveolar targeting of dynamin-like EHD2.
Assembly of EHD2 stabilized and constrained caveolae to the plasma membrane to control turnover, and depletion of EHD2, resulting in endocytic and more dynamic and short-lived caveolae.
Title: EHD2 regulates caveolar dynamics via ATP-driven targeting and oligomerization.
The characterization of Fer1L5 and its interaction with EHD1 and EHD2 underscores the complex requirement of ferlin proteins and mediators of endocytic recycling for membrane trafficking events during myotube formation
Title: Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.
interaction of myoferlin with EHD2 identifies molecular overlap between the endocytic recycling pathway and the machinery that regulates myoblast membrane fusion
Title: The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AW742286 (e-PCR)
- UniSTS:208076

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cortical actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	ISO Inferred from Sequence Orthology more info
involved_in endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in recycling endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	ISO Inferred from Sequence Orthology more info
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EH domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001419312.1 → NP_001406241.1 EH domain-containing protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC148990

UniProtKB/TrEMBL

Q8R2X0
NM_001419313.1 → NP_001406242.1 EH domain-containing protein 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC148990

UniProtKB/Swiss-Prot

Q8BH64, Q8BL28

UniProtKB/TrEMBL

Q8R2X0
NM_153068.4 → NP_694708.2 EH domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_694708.2

Status: VALIDATED

Source sequence(s)

AC148990

Consensus CDS

CCDS20842.1

UniProtKB/Swiss-Prot

Q8BH64, Q8BL28

UniProtKB/TrEMBL

Q8R2X0

Related

ENSMUSP00000096397.4, ENSMUST00000098799.5

Conserved Domains (4) summary

smart00027
Location:443 → 536

EH; Eps15 homology domain

cd09913
Location:60 → 300

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:25 → 56

EHD_N; N-terminal EH-domain containing protein

pfam18150
Location:288 → 394

DUF5600; Domain of unknown function (DUF5600)