ENSMUSG00000027293


Mus musculus

Features
Gene ID: ENSMUSG00000027293
  
Biological name :Ehd4
  
Synonyms : Ehd4 / EH domain-containing protein 4 / Q9EQP2
  
Possible biological names infered from orthology : EH domain containing 4 / Q9H223
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: E5
Gene start: 120089175
Gene end: 120154606
  
Corresponding Affymetrix probe sets: 10486396 (MoGene1.0st)   1449852_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028755
NCBI entrez gene - 98878     See in Manteia.
MGI - MGI:1919619
RefSeq - XM_017319352
RefSeq - NM_133838
RefSeq Peptide - NP_598599
swissprot - Q3TM70
swissprot - Q9EQP2
Ensembl - ENSMUSG00000027293
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehd4ENSDARG00000054302Danio rerio
 EHD4ENSGALG00000008950Gallus gallus
 EHD4ENSG00000103966Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ehd3 / Q9QXY6 / EH domain-containing protein 3 / Q9NZN3* / EH domain containing 3*ENSMUSG0000002406574
Ehd1 / Q9WVK4 / EH domain-containing protein 1 / Q9H4M9* / EH domain containing 1*ENSMUSG0000002477274
Ehd2 / Q8BH64 / EH domain-containing protein 2 / Q9NZN4* / EH domain containing 2*ENSMUSG0000007436468
Srl / Q7TQ48 / Sarcalumenin / Q86TD4*ENSMUSG0000002251924
Itsn1 / Q9Z0R4 / Intersectin-1 / Q15811*ENSMUSG0000002295717
Itsn2 / intersectin 2 / Q9NZM3*ENSMUSG0000002064017
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*ENSMUSG0000002855215
Reps1 / O54916 / RalBP1-associated Eps domain-containing protein 1 / Q96D71* / RALBP1 associated Eps domain containing 1*ENSMUSG000000198549
Reps2 / RALBP1 associated Eps domain containing protein 2 / Q8NFH8* / RALBP1 associated Eps domain containing 2*ENSMUSG000000408559


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
 IPR029952  EH domain-containing protein 4
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006907 pinocytosis IEA
 biological_processGO:0030100 regulation of endocytosis IEA
 biological_processGO:0032456 endocytic recycling ISO
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0055038 recycling endosome membrane ISS
 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:0045296 cadherin binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000351 increased cell proliferation "greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0001153 small seminiferous tubules "reduced diameter of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Th/t13
Genetic Background: Not Specified

 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]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Th/t13
Genetic Background: Not Specified

 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:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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]
Show

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:0004182 abnormal spermiation "failure of mature spermatozoa to release from supporting Sertoli cells into the lumen of seminiferous tubules" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Th/t13
Genetic Background: Not Specified

 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"]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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"]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0005491 islet cell hyperplasia "increased numbers cells within the structures that are scattered throughout the pancreas and comprise its endocrine portion" [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0006307 abnormal seminiferous tubule size "alteration in the diameter of the tubules in the testes where spermatogenesis occurs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0006308 enlarged seminiferous tubules "increased diameter of the tubules in the testes where spermatogenesis occurs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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"]
Show

Allelic Composition: Ppp2r5dtm1Vjan/Ppp2r5dtm1Vjan,Tg(Thy1-MAPT)5Vln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0008280 male germ cell apoptosis "presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Th/t13
Genetic Background: Not Specified

 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]
Show

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]
Show

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]
Show

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]
Show

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]
Show

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]
Show

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]
Show

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
No match






 

0 s.

 
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