Ehd4 EH-domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ehd4provided by MGI
Official Full Name: EH-domain containing 4provided by MGI
Primary source: MGI:MGI:1919619
See related: Ensembl:ENSMUSG00000027293 AllianceGenome:MGI:1919619
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: Past2; 2210022F10Rik
Summary: Predicted to enable ATP binding activity; GTP binding activity; and calcium ion binding activity. Predicted to be involved in several processes, including pinocytosis; positive regulation of peptidyl-tyrosine phosphorylation; and protein homooligomerization. Located in perinuclear region of cytoplasm. Is expressed in several structures, including Meckel's cartilage; appendicular skeleton; axial skeleton; hip; and neural tube. Orthologous to human EHD4 (EH domain containing 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung adult (RPKM 115.2), heart adult (RPKM 78.1) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.16 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (119919958..119985028, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (120089487..120154575, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
EHD-mediated endocytic traffic of key surface receptors such as VEGFR2 is essential for physiological control of glomerular function.
Title: Renal thrombotic microangiopathy in mice with combined deletion of endocytic recycling regulators EHD3 and EHD4.
Results suggest a role for EHD4 in the proper development of postmitotic and postmeiotic germ cells.
Title: Ehd4 is required to attain normal prepubertal testis size but dispensable for fertility in male mice.
EHD4 is a novel CDH23-interacting protein that could regulate CDH23 trafficking/localization in a calcium-sensitive manner.
Title: EHD4 and CDH23 are interacting partners in cochlear hair cells.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB371349 (e-PCR)
- UniSTS:207386

RH135958 (e-PCR)
- UniSTS:209954

AI846352 (e-PCR)
- UniSTS:165195

AV006278 (e-PCR)
- UniSTS:165197

NoName (e-PCR)
- UniSTS:225362

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in pinocytosis	IEA Inferred from Electronic Annotation more info
involved_in pinocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of endocytosis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	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	IEA Inferred from Electronic Annotation 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 4

Names: EH domain containing protein MPAST2; PAST homolog 2; mPAST2

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_001418914.1 → NP_001405843.1 EH domain-containing protein 4 isoform 2

Status: VALIDATED

Source sequence(s)

AL833774

UniProtKB/TrEMBL

Q3TQ74
NM_001418915.1 → NP_001405844.1 EH domain-containing protein 4 isoform 3

Status: VALIDATED

Source sequence(s)

AL833774
NM_133838.5 → NP_598599.2 EH domain-containing protein 4 isoform 1

See identical proteins and their annotated locations for NP_598599.2

Status: VALIDATED

Source sequence(s)

AL833774

Consensus CDS

CCDS16615.1

UniProtKB/Swiss-Prot

Q9EQP2

UniProtKB/TrEMBL

Q3TM70, Q3TWP9

Related

ENSMUSP00000028755.8, ENSMUST00000028755.8

Conserved Domains (4) summary

smart00027
Location:441 → 534

EH; Eps15 homology domain

cd09913
Location:63 → 303

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

pfam16880
Location:27 → 59

EHD_N; N-terminal EH-domain containing protein

pfam18150
Location:291 → 397

DUF5600; Domain of unknown function (DUF5600)

RNA

NR_184851.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL833774
NR_184852.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL833774

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

119919958..119985028 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319352.3 → XP_017174841.1 EH domain-containing protein 4 isoform X1

UniProtKB/TrEMBL

Q3TWP9

Conserved Domains (3) summary

smart00027
Location:353 → 446

EH; Eps15 homology domain

cd09913
Location:1 → 215

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

pfam18150
Location:204 → 309

DUF5600; Domain of unknown function (DUF5600)