ENSG00000069702


Homo sapiens

Features
Gene ID: ENSG00000069702
  
Biological name :TGFBR3
  
Synonyms : Q03167 / TGFBR3 / transforming growth factor beta receptor 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p22.1
Gene start: 91680343
Gene end: 91906335
  
Corresponding Affymetrix probe sets: 204731_at (Human Genome U133 Plus 2.0 Array)   226625_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359426
Ensembl peptide - ENSP00000395975
Ensembl peptide - ENSP00000436127
Ensembl peptide - ENSP00000434994
Ensembl peptide - ENSP00000433477
Ensembl peptide - ENSP00000432638
Ensembl peptide - ENSP00000212355
NCBI entrez gene - 7049     See in Manteia.
OMIM - 600742
RefSeq - XM_006710868
RefSeq - NM_001195683
RefSeq - NM_001195684
RefSeq - NM_003243
RefSeq - XM_006710867
RefSeq Peptide - NP_001182613
RefSeq Peptide - NP_001182612
RefSeq Peptide - NP_003234
swissprot - E9PAW7
swissprot - A0A0A8KWK3
swissprot - E9PKY4
swissprot - E9PMG7
swissprot - Q03167
Ensembl - ENSG00000069702
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tgfbr3ENSDARG00000099979Danio rerio
 TGFBR3ENSGALG00000006038Gallus gallus
 Tgfbr3ENSMUSG00000029287Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ENG / P17813 / endoglinENSG0000010699119
H3BV60 / TGFBR3L / transforming growth factor beta receptor 3 likeENSG0000026000110


Protein motifs (from Interpro)
Interpro ID Name
 IPR001507  Zona pellucida domain
 IPR017977  Zona pellucida domain, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IDA
 biological_processGO:0001889 liver development ISS
 biological_processGO:0003007 heart morphogenesis ISS
 biological_processGO:0003150 muscular septum morphogenesis ISS
 biological_processGO:0003151 outflow tract morphogenesis ISS
 biological_processGO:0003223 ventricular compact myocardium morphogenesis ISS
 biological_processGO:0006955 immune response IMP
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway ISS
 biological_processGO:0007181 transforming growth factor beta receptor complex assembly IEA
 biological_processGO:0016477 cell migration ISS
 biological_processGO:0030509 BMP signaling pathway IDA
 biological_processGO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0032354 response to follicle-stimulating hormone IDA
 biological_processGO:0034695 response to prostaglandin E IDA
 biological_processGO:0034699 response to luteinizing hormone IDA
 biological_processGO:0035556 intracellular signal transduction IMP
 biological_processGO:0043393 regulation of protein binding IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation ISS
 biological_processGO:0051271 negative regulation of cellular component movement IDA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis ISS
 biological_processGO:0060021 roof of mouth development ISS
 biological_processGO:0060038 cardiac muscle cell proliferation ISS
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation ISS
 biological_processGO:0060216 definitive hemopoiesis ISS
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition IDA
 biological_processGO:0060318 definitive erythrocyte differentiation ISS
 biological_processGO:0060347 heart trabecula formation ISS
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation IMP
 biological_processGO:0060412 ventricular septum morphogenesis ISS
 biological_processGO:0060939 epicardium-derived cardiac fibroblast cell development ISS
 biological_processGO:0060979 vasculogenesis involved in coronary vascular morphogenesis ISS
 biological_processGO:0061384 heart trabecula morphogenesis ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034673 inhibin-betaglycan-ActRII complex IDA
 cellular_componentGO:0043235 receptor complex IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005024 transforming growth factor beta-activated receptor activity IDA
 molecular_functionGO:0005114 type II transforming growth factor beta receptor binding IDA
 molecular_functionGO:0005160 transforming growth factor beta receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005539 glycosaminoglycan binding TAS
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0015026 coreceptor activity IDA
 molecular_functionGO:0017134 fibroblast growth factor binding IEA
 molecular_functionGO:0030165 PDZ domain binding ISS
 molecular_functionGO:0046332 SMAD binding IMP
 molecular_functionGO:0048185 activin binding IEA
 molecular_functionGO:0050431 transforming growth factor beta binding IEA
 molecular_functionGO:0070123 transforming growth factor beta receptor activity, type III IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001123 Visual field defects 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
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 HP:0002138 Subarachnoid hemorrhage 
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 HP:0002326 Transient ischemic attack 
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 HP:0002363 Abnormality of the brainstem 
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 HP:0002616 Aortic root dilatation 
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 HP:0002621 Atherosclerosis "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators]
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 HP:0002647 Aortic dissection "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators]
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 HP:0007029 Cerebral berry aneurysms 
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 HP:0012246 Oculomotor nerve palsy "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson]
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 HP:0012518 Abnormality of circle of Willis "An anomaly of the `circle of Willis` (FMA:50454), also known as the cerebral arterial circle." [HPO:probinson]
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 HP:0040197 Encephalomalacia "Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury." [PhenoTips:CHum]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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