ENSMUSG00000028238


Mus musculus

Features
Gene ID: ENSMUSG00000028238
  
Biological name :Atp6v0d2
  
Synonyms : Atp6v0d2 / Q80SY3 / V-type proton ATPase subunit d 2
  
Possible biological names infered from orthology : ATPase H+ transporting V0 subunit d2 / Q8N8Y2
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: A3
Gene start: 19876841
Gene end: 19922605
  
Corresponding Affymetrix probe sets: 10511779 (MoGene1.0st)   1434798_at (Mouse Genome 430 2.0 Array)   1444176_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123599
Ensembl peptide - ENSMUSP00000029900
NCBI entrez gene - 242341     See in Manteia.
MGI - MGI:1924415
RefSeq - NM_175406
RefSeq - XM_017320194
RefSeq Peptide - NP_780615
swissprot - B1AWC2
swissprot - Q80SY3
Ensembl - ENSMUSG00000028238
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q5ZHL0ENSGALG00000034294Gallus gallus
 Q8N8Y2ENSG00000147614Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P51863 / Atp6v0d1 / V-type proton ATPase subunit d 1 / P61421* / ATPase H+ transporting V0 subunit d1*ENSMUSG0000001316067


Protein motifs (from Interpro)
Interpro ID Name
 IPR002843  ATPase, V0 complex, c/d subunit
 IPR016727  ATPase, V0 complex, subunit d
 IPR035067  V-type ATPase subunit c
 IPR036079  V-type ATP synthase subunit C-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007034 vacuolar transport IBA
 biological_processGO:0007035 vacuolar acidification IBA
 biological_processGO:0015991 ATP hydrolysis coupled proton transport IEA
 cellular_componentGO:0005765 lysosomal membrane IBA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016471 vacuolar proton-transporting V-type ATPase complex IEA
 cellular_componentGO:0033179 proton-transporting V-type ATPase, V0 domain IEA
 molecular_functionGO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA
 molecular_functionGO:0015078 proton transmembrane transporter activity IEA
 molecular_functionGO:0046961 proton-transporting ATPase activity, rotational mechanism IBA


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000067 osteopetrosis "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Sh3bp2tm1Bjro/Sh3bp2tm1Bjro,Tnftm1Gkl/Tnftm1Gkl
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J

 MP:0004982 abnormal osteoclast morphology "any structural anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sh3bp2tm1Bjro/Sh3bp2tm1Bjro,Tnftm1Gkl/Tnftm1Gkl
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J

 MP:0004993 decreased bone resorption "reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sh3bp2tm1Bjro/Sh3bp2tm1Bjro,Tnftm1Gkl/Tnftm1Gkl
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J

 MP:0008396 abnormal osteoclast differentiation "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sh3bp2tm1Bjro/Sh3bp2tm1Bjro,Tnftm1Gkl/Tnftm1Gkl
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000013160 P51863 / Atp6v0d1 / V-type proton ATPase subunit d 1 / P61421* / ATPase H+ transporting V0 subunit d1*  / complex






 

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