ENSMUSG00000075254


Mus musculus

Features
Gene ID: ENSMUSG00000075254
  
Biological name :Heg1
  
Synonyms : 1 / E9Q7X6 / Heg1
  
Possible biological names infered from orthology : heart development protein with EGF like domains 1 / Q9ULI3
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: B3
Gene start: 33684466
Gene end: 33771576
  
Corresponding Affymetrix probe sets: 10435266 (MoGene1.0st)   10435271 (MoGene1.0st)   1439926_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123686
Ensembl peptide - ENSMUSP00000119790
NCBI entrez gene - 77446     See in Manteia.
MGI - MGI:1924696
RefSeq - XM_017317159
RefSeq - XM_006522716
RefSeq - XM_006522717
RefSeq - XM_006522718
RefSeq - NM_175256
RefSeq - XM_006522715
RefSeq Peptide - NP_780465
swissprot - E9Q7X6
swissprot - E9Q440
Ensembl - ENSMUSG00000075254
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 heg1ENSDARG00000018441Danio rerio
 HEG1ENSGALG00000011813Gallus gallus
 HEG1ENSG00000173706Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR028720  Protein HEG


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001570 vasculogenesis IGI
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001885 endothelial cell development IGI
 biological_processGO:0001886 endothelial cell morphogenesis IMP
 biological_processGO:0001944 vasculature development IGI
 biological_processGO:0001945 lymph vessel development IMP
 biological_processGO:0003017 lymph circulation IMP
 biological_processGO:0003209 cardiac atrium morphogenesis IMP
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IGI
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0007043 cell-cell junction assembly IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0030324 lung development IMP
 biological_processGO:0035264 multicellular organism growth IGI
 biological_processGO:0045216 cell-cell junction organization IMP
 biological_processGO:0048845 venous blood vessel morphogenesis IGI
 biological_processGO:0050878 regulation of body fluid levels IMP
 biological_processGO:0055017 cardiac muscle tissue growth IGI
 biological_processGO:0060039 pericardium development IMP
 biological_processGO:0090271 positive regulation of fibroblast growth factor production IGI
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0001182 lung hemorrhage "bleeding in the respiratory organs" [J:66345]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0003542 abnormal vascular endothelial cell development "malformation or aberrant differentiation of the cells that line the vasculature" [J:95387, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

 MP:0003659 abnormal lymph circulation "abnormalities in the flow of the lymph from the tissues into the veins of the circulatory system" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:95885]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

 MP:0004038 lymphangiectasis "dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:71816]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004783 abnormal cardinal vein morphology "any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0010195 abnormal lymphatic vessel endothelium morphology "any structural anomaly of the thin layer of flat cells that line the lymphatic vessels and form a barrier between circulating lymph in the lumen and the rest of the vessel wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

 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: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Ccm2tm1Mlkn/Ccm2+,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011109 partial lethality throughout fetal growth and development "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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0011110 partial preweaning 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 weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Fzd4tm1.1(KOMP)Vlcg/Fzd4tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Fzd4tm1.1(KOMP)Vlcg/Ucd

 MP:0011395 decreased fetal cardiomyocyte proliferation "reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith]
Show

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * C57BL/6

 MP:0012080 chylous ascites "the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms" [MGI:csmith]
Show

Allelic Composition: Fancd2Gt(OST57859)Lex/Fancd2Gt(OST57859)Lex,Usp1tm1.1Ada/Usp1tm1.1Ada
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0012511 dilated aortic sac "abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates" [MGI:anna]
Show

Allelic Composition: Ccm2Gt(RRG051)Byg/Ccm2+,Heg1tm1Mlkn/Heg1+
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

  


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






 

0 s.

 
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