ENSMUSG00000115293


Mus musculus

Features
Gene ID: ENSMUSG00000115293
  
Biological name :Ece2
  
Synonyms : Ece2
  
Possible biological names infered from orthology : EEF1AKMT4-ECE2 / EEF1AKMT4-ECE2 readthrough / endothelin converting enzyme 2 / O60344
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: B1
Gene start: 20611601
Gene end: 20645920
  
Corresponding Affymetrix probe sets: 10434441 (MoGene1.0st)   10434446 (MoGene1.0st)   1424561_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113475
Ensembl peptide - ENSMUSP00000121231
Ensembl peptide - ENSMUSP00000078550
NCBI entrez gene - 110599584     See in Manteia.
MGI - MGI:1101356
MGI - MGI:6121518
RefSeq - NM_177940
RefSeq - NM_177941
RefSeq Peptide - NP_808810
RefSeq Peptide - NP_808809
swissprot - E9QKA6
swissprot - E9PUE3
swissprot - F6T2B3
Ensembl - ENSMUSG00000115293
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ECE2ENSDARG00000102142Danio rerio
 ENSGALG00000006272Gallus gallus
 ECE2ENSG00000145194Homo sapiens
 O60344ENSG00000284917Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ece2 / O60344* / EEF1AKMT4-ECE2* / EEF1AKMT4-ECE2 readthrough* / endothelin converting enzyme 2*ENSMUSG0000002284283
Ece1 / Q4PZA2 / Endothelin-converting enzyme 1 / P42892*ENSMUSG0000005753051
Mmel1 / membrane metallo-endopeptidase-like 1 / Q495T6* / membrane metalloendopeptidase like 1*ENSMUSG0000005818331
Ecel1 / Q9JMI0 / Endothelin-converting enzyme-like 1 / O95672*ENSMUSG0000002624731
Mme / Q61391 / Neprilysin / P08473* / membrane metalloendopeptidase*ENSMUSG0000002782029
Phex / P70669 / Metalloendopeptidase homolog PEX / P78562* / phosphate regulating endopeptidase homolog X-linked*ENSMUSG0000005745728
Kel / Q9EQF2 / Kell blood group glycoprotein homolog / P23276* / Kell blood group, metallo-endopeptidase*ENSMUSG0000002986624


Protein motifs (from Interpro)
Interpro ID Name
 IPR000718  Peptidase M13
 IPR008753  Peptidase M13, N-terminal domain
 IPR018497  Peptidase M13, C-terminal domain
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase
 IPR029733  Endothelin-converting enzyme


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0016486 peptide hormone processing IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000285 abnormal cardiac valve morphology "malformation of the membranous folds of the heart that prevent reflux of fluid" [J:18048]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000299 failure of endocardial cushion closure "failure of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices" [J:29971]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002177 abnormal outer ear morphology "malformation or malfunction of any components of the auricles or external acoustic meatus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Zfp36tm1Pjb/Zfp36tm1Pjb
Genetic Background: B6.Cg-Zfp36tm1Pjb

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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