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

Gene ID: 98878, updated on 2-Nov-2024

Summary

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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, Nov 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

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See Ehd4 in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 28042 Neighboring gene phospholipase A2, group IVB (cytosolic) Neighboring gene jumonji domain containing 7 Neighboring gene spectrin beta, non-erythrocytic 5 Neighboring gene STARR-seq mESC enhancer starr_05504 Neighboring gene STARR-positive B cell enhancer ABC_E226 Neighboring gene phospholipase A2, group IVE Neighboring gene predicted gene, 52575 Neighboring gene STARR-seq mESC enhancer starr_05506 Neighboring gene predicted gene, 52560 Neighboring gene phospholipase A2, group IVD

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Ehd4 is required to attain normal prepubertal testis size but dispensable for fertility in male mice. George M, et al. Genesis, 2010 May. PMID 20213691, Free PMC Article
  2. EHD4 is a novel regulator of urinary water homeostasis. Rahman SS, et al. FASEB J, 2017 Dec. PMID 28778975, Free PMC Article
  3. EHD proteins are associated with tubular and vesicular compartments and interact with specific phospholipids. Blume JJ, et al. Exp Cell Res, 2007 Jan 15. PMID 17097635
  4. EHD4 and CDH23 are interacting partners in cochlear hair cells. Sengupta S, et al. J Biol Chem, 2009 Jul 24. PMID 19487694, Free PMC Article
  5. Renal thrombotic microangiopathy in mice with combined deletion of endocytic recycling regulators EHD3 and EHD4. George M, et al. PLoS One, 2011 Mar 9. PMID 21408024, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

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

Homology

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)

  1. NM_001418914.1 → NP_001405843.1  EH domain-containing protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL833774

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

    Status: VALIDATED

    Source sequence(s)
    AL833774

  3. 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

  1. NR_184851.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL833774

  2. 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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    119919958..119985028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EQP2.1 GenPept UniProtKB/Swiss-Prot:Q9EQP2

Gene LinkOut

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