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

    Gene ID: 98878, updated on 9-May-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 endocytic recycling; positive regulation of peptidyl-tyrosine phosphorylation; and protein homooligomerization. Located in perinuclear region of cytoplasm. Is expressed in Meckel's cartilage; appendicular skeleton; axial skeleton; and hip. Orthologous to human EHD4 (EH domain containing 4). [provided by Alliance of Genome Resources, Apr 2022]
    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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    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
    • 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 a novel regulator of urinary water homeostasis. Rahman SS, et al. FASEB J, 2017 Dec. PMID 28778975, Free PMC Article
    2. 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
    3. 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
    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. 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

    See all (38) 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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide 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 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 endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pinocytosis ISO
    Inferred from Sequence Orthology
    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 localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    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
    		  
    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
    		  

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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