ENSMUSG00000025880


Mus musculus

Features
Gene ID: ENSMUSG00000025880
  
Biological name :Smad7
  
Synonyms : O35253 / Smad7 / SMAD family member 7
  
Possible biological names infered from orthology : O15105
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: E3
Gene start: 75367529
Gene end: 75395935
  
Corresponding Affymetrix probe sets: 10456745 (MoGene1.0st)   1423389_at (Mouse Genome 430 2.0 Array)   1443771_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026999
Ensembl peptide - ENSMUSP00000129322
Ensembl peptide - ENSMUSP00000133544
Ensembl peptide - ENSMUSP00000133696
NCBI entrez gene - 17131     See in Manteia.
MGI - MGI:1100518
RefSeq - XM_006525703
RefSeq - NM_001042660
RefSeq Peptide - NP_001036125
swissprot - G3UX42
swissprot - B2RPW6
swissprot - O35253
swissprot - G3UXH8
Ensembl - ENSMUSG00000025880
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smad7ENSDARG00000016858Danio rerio
 ENSGALG00000037160Gallus gallus
 SMAD7BENSGALG00000029545Gallus gallus
 SMAD7ENSG00000101665Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Smad6 / O35182 / Mothers against decapentaplegic homolog 6 / O43541* / SMAD family member 6*ENSMUSG0000003686750
Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*ENSMUSG0000002154026
Smad2 / Q62432 / Mothers against decapentaplegic homolog 2 / Q15796* / SMAD family member 2*ENSMUSG0000002456326
Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*ENSMUSG0000002779626
Smad1 / P70340 / SMAD family member 1 / Q15797*ENSMUSG0000003168126
Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*ENSMUSG0000003240225
Smad4 / P97471 / Mothers against decapentaplegic homolog 4 / Q13485* / SMAD family member 4*ENSMUSG0000002451524


Protein motifs (from Interpro)
Interpro ID Name
 IPR001132  SMAD domain, Dwarfin-type
 IPR003619  MAD homology 1, Dwarfin-type
 IPR008984  SMAD/FHA domain superfamily
 IPR013019  MAD homology, MH1
 IPR013790  Dwarfin
 IPR017855  SMAD-like domain superfamily
 IPR036578  SMAD MH1 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISO
 biological_processGO:0001657 ureteric bud development IEP
 biological_processGO:0002725 negative regulation of T cell cytokine production IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IDA
 biological_processGO:0010717 regulation of epithelial to mesenchymal transition ISO
 biological_processGO:0010801 negative regulation of peptidyl-threonine phosphorylation IMP
 biological_processGO:0010944 negative regulation of transcription by competitive promoter binding ISO
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway IC
 biological_processGO:0022409 positive regulation of cell-cell adhesion IMP
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway ISO
 biological_processGO:0030514 negative regulation of BMP signaling pathway ISO
 biological_processGO:0031397 negative regulation of protein ubiquitination ISO
 biological_processGO:0031398 positive regulation of protein ubiquitination ISO
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
 biological_processGO:0032925 regulation of activin receptor signaling pathway ISO
 biological_processGO:0033137 negative regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0034333 adherens junction assembly ISO
 biological_processGO:0034616 response to laminar fluid shear stress IEA
 biological_processGO:0034629 cellular protein-containing complex localization ISO
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity ISO
 biological_processGO:0048844 artery morphogenesis IMP
 biological_processGO:0050821 protein stabilization ISO
 biological_processGO:0051444 negative regulation of ubiquitin-protein transferase activity ISO
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IMP
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization IC
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation IMP
 biological_processGO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation ISO
 biological_processGO:0060412 ventricular septum morphogenesis IMP
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IMP
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 biological_processGO:2000317 negative regulation of T-helper 17 type immune response IMP
 biological_processGO:2000320 negative regulation of T-helper 17 cell differentiation IMP
 cellular_componentGO:0001650 fibrillar center ISO
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005913 cell-cell adherens junction ISO
 cellular_componentGO:0016342 catenin complex ISO
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IPI
 molecular_functionGO:0008013 beta-catenin binding ISO
 molecular_functionGO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity ISO
 molecular_functionGO:0031625 ubiquitin protein ligase binding ISO
 molecular_functionGO:0034713 type I transforming growth factor beta receptor binding ISO
 molecular_functionGO:0044212 transcription regulatory region DNA binding ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding ISO
 molecular_functionGO:0070411 I-SMAD binding ISO


Pathways (from Reactome)
Pathway description
Signaling by BMP
Downregulation of TGF-beta receptor signaling
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Ub-specific processing proteases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Gde1tm1Crv/Gde1tm1Crv,Napepldtm1Crv/Napepldtm1Crv
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0000703 abnormal thymus morphology "anomalous structure or development of the primary lymphoid organ; required for immune system development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55400]
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Allelic Composition: Gde1tm1Crv/Gde1tm1Crv,Napepldtm1Crv/Napepldtm1Crv
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 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]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001786 skin edema "accumulation of an excessive amount of fluid in the skin" [J:65039]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Gde1tm1Crv/Gde1tm1Crv,Napepldtm1Crv/Napepldtm1Crv
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001830 decreased activated T cell number "reduced numbers of effector T cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 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]
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Allelic Composition: Smad7Gt(YHC053)Byg/Smad7+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0003339 decreased number of pancreatic beta cells "fewer than normal number of the cells of the pancreas that secrete insulin" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gt(ROSA)26Sortm2(Lmp1/CD40)Uzs/Gt(ROSA)26Sor+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0003410 abnormal artery development "anomaly in the process of forming the blood vessels that carry blood away from the heart" [J:94740, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smad7Gt(YHC053)Byg/Smad7+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0003814 vascular smooth muscle cell hypoplasia "decreased numbers of smooth muscle cells in the vascular wall" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Smad7Gt(YHC053)Byg/Smad7+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

 MP:0003898 abnormal QRS complex "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarise prior to their contraction" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0004067 abnormal ventricular trabeculae morphology "aberrant structure of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0004800 decreased susceptibility to experimental autoimmune encephalomyelitis "reduced likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0004816 abnormal class switch recombination "anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0005093 impaired B cell proliferation "absent or reduced ability of B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0005095 decreased T cell proliferation "reduced clonal expansion of naive T cells in response to stimuli" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 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: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0005595 abnormal vascular smooth muscle physiology "anomalous function of the nonstriated, involuntary muscle tissue of the blood vessels" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Smad7Gt(YHC053)Byg/Smad7+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

 MP:0006354 abnormal fourth branchial arch artery morphology "any structural anomaly of the vessels formed within the fourth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gde1tm1Crv/Gde1tm1Crv,Napepldtm1Crv/Napepldtm1Crv
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smad7Gt(YHC053)Byg/Smad7+,Tbx1tm1Bld/Tbx1+
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

 MP:0008088 abnormal T-helper 1 cell differentiation "atypical production of or inability to produce the subset of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity" [CL:0000545, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0008567 decreased interferon-gamma secretion "reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0008712 decreased interleukin-9 secretion "reduction in the production or release of a multifunctional cytokine secreted by primarily by activated TH2 cells that may play a role as a regulator of allergic inflammation, and has been shown to enhance the growth and differentiation of mast cells, and can act on a variety of other immune cells" [MESH:D12.644.276.374.465.509]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0008782 increased B cell apoptosis "increase in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0008837 increased transforming growth factor level "greater concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function" [MESH:D12.644.276.374.687]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 MP:0009175 abnormal pancreatic beta cell differentiation "atypical production of or inability to produce the cells of the pancreas that secrete insulin, and/or accumulation of pancreatic beta cell precursors" [MESH:A03.734.414.131]
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Allelic Composition: Gt(ROSA)26Sortm2(Lmp1/CD40)Uzs/Gt(ROSA)26Sor+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0009177 decreased pancreatic alpha cell number "reduction in the number of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065]
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Allelic Composition: Gt(ROSA)26Sortm2(Lmp1/CD40)Uzs/Gt(ROSA)26Sor+,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

 MP:0009278 abnormal bone marrow cell physiology "any functional anomaly of any of the cells found in the blood" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 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]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Smad7Gt(YHC053)Byg/Smad7Gt(YHC053)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010506 prolonged RR interval "increase in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

 MP:0011090 partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Thtm1Srt/Thtm1Srt
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Pmp22Mhdatre002/Pmp22Mhdatre002
Genetic Background: C3HeB/FeJ-Pmp22Mhdatre002

 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]
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Allelic Composition: Cd74tm1Liz/Cd74tm1Liz,H2-DMatm1Luc/H2-DMatm1Luc,Tg(CD74*)1Ayr/0
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * DBA/2J

Allelic Composition: Smad7tm1.1Shou/Smad7tm1.1Shou
Genetic Background: involves: C57BL/6 * FVB

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002603 Tgfb1 / P04202 / transforming growth factor, beta 1 / P01137*  / reaction / complex
 ENSMUSG00000007613 Q64729 / Tgfbr1 / transforming growth factor, beta receptor I / P36897* / transforming growth factor beta receptor 1*  / complex / reaction
 ENSMUSG00000018363 A2A5Z6 / Smurf2 / E3 ubiquitin-protein ligase SMURF2 / Q9HAU4* / SMAD specific E3 ubiquitin protein ligase 2*  / complex / reaction
 ENSMUSG00000038780 Q9CUN6 / Smurf1 / E3 ubiquitin-protein ligase SMURF1 / Q9HCE7* / SMAD specific E3 ubiquitin protein ligase 1*  / complex
 ENSMUSG00000032440 Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*  / complex / reaction
 ENSMUSG00000018189 Uchl5 / Q9WUP7 / ubiquitin carboxyl-terminal esterase L5 / Q9Y5K5* / ubiquitin C-terminal hydrolase L5*  / reaction / complex
 ENSMUSG00000024232 Bambi / Q9D0L6 / BMP and activin membrane-bound inhibitor homolog / Q13145* / BMP and activin membrane bound inhibitor*  / reaction / complex
 ENSMUSG00000027358 Bmp2 / P21274 / Bone morphotic protein 2 / P12643* / bone morphogenetic protein 2*  / complex / reaction
 ENSMUSG00000061393 Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*  / reaction / complex
 ENSMUSG00000027796 Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*  / complex / reaction
 ENSMUSG00000032217 Q99ML9 / Rnf111 / Mus musculus ring finger 111 (Rnf111), transcript variant 2, mRNA. / Q6ZNA4* / ring finger protein 111*  / complex / reaction
 ENSMUSG00000052430 Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*  / complex / reaction
 ENSMUSG00000031681 Smad1 / P70340 / SMAD family member 1 / Q15797*  / reaction / complex
 ENSMUSG00000052155 Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*  / complex / reaction
 ENSMUSG00000030224 Strap / Q9Z1Z2 / serine/threonine kinase receptor associated protein / Q9Y3F4*  / complex / reaction
 ENSMUSG00000021540 Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*  / complex / reaction
 ENSMUSG00000021796 Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*  / reaction / complex
 ENSMUSG00000067336 Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*  / reaction / complex






 

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