ENSG00000024422


Homo sapiens

Features
Gene ID: ENSG00000024422
  
Biological name :EHD2
  
Synonyms : EHD2 / EH domain containing 2 / Q9NZN4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 47713343
Gene end: 47743134
  
Corresponding Affymetrix probe sets: 205341_at (Human Genome U133 Plus 2.0 Array)   221870_at (Human Genome U133 Plus 2.0 Array)   45297_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263277
Ensembl peptide - ENSP00000471766
Ensembl peptide - ENSP00000439036
NCBI entrez gene - 30846     See in Manteia.
OMIM - 605890
RefSeq - NM_014601
RefSeq Peptide - NP_055416
swissprot - A0A024R0S6
swissprot - M0R1B9
swissprot - Q9NZN4
Ensembl - ENSG00000024422
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehd2aENSDARG00000035137Danio rerio
 ehd2bENSDARG00000040362Danio rerio
 Ehd2ENSMUSG00000074364Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EHD3 / Q9NZN3 / EH domain containing 3ENSG0000001301671
EHD1 / Q9H4M9 / EH domain containing 1ENSG0000011004770
EHD4 / Q9H223 / EH domain containing 4ENSG0000010396669
SRL / Q86TD4 / sarcalumeninENSG0000018573924
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752717
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839917
ITSN1 / Q15811 / intersectin 1ENSG0000020572617
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583215
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG0000013559710
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG000001698919


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022812  Dynamin superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029945  EH domain-containing protein 2
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0032456 endocytic recycling IGI
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:0097320 plasma membrane tubulation ISS
 biological_processGO:1901741 positive regulation of myoblast fusion ISS
 biological_processGO:2001137 positive regulation of endocytic recycling ISS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005901 caveola IDA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane ISS
 cellular_componentGO:0045171 intercellular bridge IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0055038 recycling endosome membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131381 RBSN / Q9H1K0 / rabenosyn, RAB effector  / reaction / complex






 

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