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    EHD2 EH-domain containing 2 [ Homo sapiens ]

    Gene ID: 30846, updated on 4-Feb-2012
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    Summary

    Official Symbol
    EHD2provided by HGNC
    Official Full Name
    EH-domain containing 2provided by HGNC
    Primary source
    HGNC:3243
    See related
    Ensembl:ENSG00000024422; HPRD:10434; MIM:605890
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAST2
    Summary
    This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    19q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (48216601..48246391)
    See EHD2 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene zinc finger protein 541 Neighboring gene glioma tumor suppressor candidate region gene 1 Neighboring gene glioma tumor suppressor candidate region gene 2 Neighboring gene uncharacterized LOC729626 Neighboring gene small nucleolar RNA, C/D box 23

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. EHD2 mediates trafficking from the plasma membrane by modulating Rac1 activity. Benjamin S, et al. Biochem J, 2011 Nov 1. PMID 21756249.
    2. EH domain proteins regulate cardiac membrane protein targeting. Gudmundsson H, et al. Circ Res, 2010 Jul 9. PMID 20489164.
    3. Architectural and mechanistic insights into an EHD ATPase involved in membrane remodelling. Daumke O, et al. Nature, 2007 Oct 3. PMID 17914359.
    4. Shared as well as distinct roles of EHD proteins revealed by biochemical and functional comparisons in mammalian cells and C. elegans. George M, et al. BMC Cell Biol, 2007 Jan 18. PMID 17233914.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (14) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. EHD2 regulates trafficking from the plasma membrane by controlling Rac1 activity.
      Title: EHD2 mediates trafficking from the plasma membrane by modulating Rac1 activity.
    2. A new class of cardiac trafficking proteins(EHD1, EHD2, EHD3, EHD4) regulates cardiac membrane protein targeting.
      Title: EH domain proteins regulate cardiac membrane protein targeting.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9NZN4 Q9BXS5 AP1M1    HPRD  PubMed  
    Q9NZN4 Q96CW1 AP2M1    HPRD  PubMed  
    Q9NZN4 NACSIN EHBP1    HPRD  PubMed  
    Q9NZN4 Q9NZN4 EHD2    HPRD  PubMed  
    Q9NZN4 Q13492 PICALM    HPRD  PubMed  
    Q9NZN4 P14672 SLC2A4    HPRD  PubMed  
    BioGRID:119056 BioGRID:115364 AP1M2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:119056 BioGRID:107587 AP2M1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:119056 BioGRID:116893 EHBP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:119056 BioGRID:112408 SLC2A4    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystem
      Insulin Signaling

    Clone Names

    • FLJ96617

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleic acid binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    endocytic recycling IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    membrane fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    EH domain-containing protein 2
    Names
    EH domain-containing protein 2
    PAST homolog 2
    EH domain containing 2
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    NCBI Reference Sequences (RefSeq)

    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_014601.3 → NP_055416.2  EH domain-containing protein 2

      Status: REVIEWED

      Source sequence(s)
      AK315548, BC014445, BG677716, DA094880, DB260808
      Consensus CDS
      CCDS12704.1
      UniProtKB/Swiss-Prot
      Q9NZN4
      Related
      ENSP00000263277, ENST00000263277
      Conserved Domains (4) summary
      cd00052
      Location:453 – 518
      Blast Score: 202
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      smart00027
      Location:444 – 536
      Blast Score: 283
      EH; Eps15 homology domain
      pfam00350
      Location:61 – 221
      Blast Score: 272
      Dynamin_N; Dynamin family
      cd09913
      Location:60 – 300
      Blast Score: 1153
      EHD; Eps15 homology domain (EHD), C-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      48216601..48246391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      44643202..44673032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008745.7 (3824..23346) None
    genomic AC010519.8 (36562..46740) None
    genomic CH471126.1 EAW57505.1
      EAW57506.1
    mRNA AF181263.1 AAF40470.1
    mRNA AF454952.1 AAL51078.1
    mRNA AK026134.1 None
    mRNA AK074701.1 BAC11147.1
    mRNA AK097126.1 None
    mRNA AK097228.1 BAG53436.1
    mRNA AK293429.1 BAG56934.1
    mRNA AK296907.1 BAG59463.1
    mRNA AK298067.1 BAG60358.1
    mRNA AK300512.1 BAG62224.1
    mRNA AK315548.1 BAG37926.1
    mRNA BC014445.1 AAH14445.1
    mRNA BG677716.1 None
    mRNA DA094880.1 None
    mRNA DB260808.1 None
    other-genetic DQ892835.2 ABM83761.1
    other-genetic DQ896082.2 ABM87081.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q8NCJ3 GenPept UniProtKB/TrEMBL:Q8NCJ3
    Q9NZN4.2 GenPept UniProtKB/Swiss-Prot:Q9NZN4
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    Additional Links

    Additional Links

    Gene LinkOut

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

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