ENSMUSG00000031007


Mus musculus

Features
Gene ID: ENSMUSG00000031007
  
Biological name :Atp6ap2
  
Synonyms : Atp6ap2 / Q9CYN9 / Renin receptor
  
Possible biological names infered from orthology : ATPase H+ transporting accessory protein 2 / O75787
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A1.1
Gene start: 12587801
Gene end: 12617049
  
Corresponding Affymetrix probe sets: 10598664 (MoGene1.0st)   1423662_at (Mouse Genome 430 2.0 Array)   1437688_x_at (Mouse Genome 430 2.0 Array)   1439456_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033313
NCBI entrez gene - 70495     See in Manteia.
MGI - MGI:1917745
RefSeq - NM_027439
RefSeq Peptide - NP_081715
swissprot - Q1XID4
swissprot - Q9CYN9
Ensembl - ENSMUSG00000031007
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atp6ap2ENSDARG00000008735Danio rerio
 ATP6AP2ENSGALG00000016241Gallus gallus
 O75787ENSG00000182220Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR012493  Renin receptor-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002003 angiotensin maturation IEA
 biological_processGO:0021903 rostrocaudal neural tube patterning IEA
 biological_processGO:0030177 positive regulation of Wnt signaling pathway IEA
 biological_processGO:0032914 positive regulation of transforming growth factor beta1 production IEA
 biological_processGO:0043408 regulation of MAPK cascade IEA
 biological_processGO:0048069 eye pigmentation IEA
 biological_processGO:0060323 head morphogenesis IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0019899 enzyme binding IEA


Pathways (from Reactome)
Pathway description
Metabolism of Angiotensinogen to Angiotensins
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 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: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 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: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0004857 abnormal heart weight "anomaly in the average weight of the heart compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0005419 hypoalbuminemia "blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 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: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Atp6ap2tm1.1Ics/Y
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0009640 abnormal renal tubule epithelium morphology "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dixdc1tm1Bnrc/Dixdc1tm1Bnrc
Genetic Background: involves: 129 * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ap3b1pe-8J/Ap3b1pe-8J
Genetic Background: DBA/2J

Allelic Composition: Atp6ap2tm1.1Ics/Y,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

 MP:0011282 increased podocyte apoptosis "increase in the number of podocytes undergoing programmed cell death; podocyte apoptosis is an early step in the pathophysiological progression to proteinuria and glomerulosclerosis" [MGI:anna]
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Allelic Composition: Atp6ap2tm1.1Ics/Y,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

 MP:0011351 absent proximal convoluted tubule brush border "failure to form a brush border of densely packed microvilli on the luminal surface of epithelial cells of the proximal convoluted tubule" [MGI:anna]
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Allelic Composition: Atp6ap2tm1.1Ics/Y,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
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Allelic Composition: Atp6ap2tm1.1Ics/Y,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
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Allelic Composition: Atp6ap2tm1.1Ics/Y,Tg(NPHS2-cre)295Lbh/0
Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000070645 Ren1 / P06281 / Mus musculus renin 2 tandem duplication of Ren1 (Ren2), mRNA. / REN* / renin* / P00797*  / complex






 

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