ENSMUSG00000024065


Mus musculus

Features
Gene ID: ENSMUSG00000024065
  
Biological name :Ehd3
  
Synonyms : Ehd3 / EH domain-containing protein 3 / Q9QXY6
  
Possible biological names infered from orthology : EH domain containing 3 / Q9NZN3
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: E2
Gene start: 73804841
Gene end: 73832093
  
Corresponding Affymetrix probe sets: 10446777 (MoGene1.0st)   1417235_at (Mouse Genome 430 2.0 Array)   1417236_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000024860
NCBI entrez gene - 57440     See in Manteia.
MGI - MGI:1928900
RefSeq - NM_020578
RefSeq Peptide - NP_065603
swissprot - Q9QXY6
Ensembl - ENSMUSG00000024065
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehd3ENSDARG00000007869Danio rerio
 EHD3ENSGALG00000009086Gallus gallus
 EHD3ENSG00000013016Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ehd1 / Q9WVK4 / EH domain-containing protein 1 / Q9H4M9* / EH domain containing 1*ENSMUSG0000002477286
Ehd4 / Q9EQP2 / EH domain-containing protein 4 / Q9H223* / EH domain containing 4*ENSMUSG0000002729375
Ehd2 / Q8BH64 / EH domain-containing protein 2 / Q9NZN4* / EH domain containing 2*ENSMUSG0000007436472
Srl / Q7TQ48 / Sarcalumenin / Q86TD4*ENSMUSG0000002251926
Itsn2 / intersectin 2 / Q9NZM3*ENSMUSG0000002064018
Itsn1 / Q9Z0R4 / Intersectin-1 / Q15811*ENSMUSG0000002295718
Q60902 / Eps15l1 / Epidermal growth factor receptor substrate 15-like 1 / Q9UBC2* / epidermal growth factor receptor pathway substrate 15 like 1*ENSMUSG0000000627616
Eps15 / P42567 / Epidermal growth factor receptor substrate 15 / P42566* / epidermal growth factor receptor pathway substrate 15*ENSMUSG0000002855216
Reps2 / RALBP1 associated Eps domain containing protein 2 / Q8NFH8* / RALBP1 associated Eps domain containing 2*ENSMUSG0000004085510
Reps1 / O54916 / RalBP1-associated Eps domain-containing protein 1 / Q96D71* / RALBP1 associated Eps domain containing 1*ENSMUSG0000001985410


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
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001881 receptor recycling IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0032456 endocytic recycling IEA
 biological_processGO:0034498 early endosome to Golgi transport IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0072659 protein localization to plasma membrane IEA
 biological_processGO:0086036 regulation of cardiac muscle cell membrane potential IEA
 biological_processGO:0090160 Golgi to lysosome transport IEA
 biological_processGO:1901387 positive regulation of voltage-gated calcium channel activity IMP
 biological_processGO:1903358 regulation of Golgi organization IEA
 biological_processGO:1903779 regulation of cardiac conduction IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0020018 ciliary pocket membrane IEA
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055038 recycling endosome membrane ISS
 cellular_componentGO:0060170 ciliary membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 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:0008289 lipid 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
 MP:0000530 abnormal kidney vasculature "malformation or malfunctioning of the blood vessel network of the organ of excretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0003918 decreased kidney weight "reduced heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0004969 pale kidney "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011294 renal glomerulus hypertrophy "increase in the bulk size of the capillary loops of the kidney that normally function as a filtration unit, due to cell enlargement" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011320 abnormal glomerular capillary morphology "any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus" [MGI:csmith]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011348 abnormal renal glomerulus basement membrane morphology "any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011369 increased renal glomerulus apoptosis "increase in the number of cells of the kidney glomerulus undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011409 increased renal glomerulus basement membrane thickness "increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011430 mesangiolysis "an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011453 abnormal glomerular capillary endothelium morphology "any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011455 absent glomerular endothelium fenestra "absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0011512 mesangial cell interposition "spreading of mesangial cells into the contiguous space between the adjacent glomerular endothelial cells and the glomerular basement membrane (GBM)" [MGI:anna]
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Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000014550 Rbsn / Q80Y56 / Rabenosyn-5 / Q9H1K0* / rabenosyn, RAB effector*  / complex / reaction






 

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