TGF-beta receptor signaling in skeletal dysplasias (Homo sapiens)

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1, 32CofactorLigandsCo-SmadsR-SmadsCo-smadsExact role unknownDNAAccessory receptorCofactorsRepressorsRsmadsSMAD2FOSSMAD4SMAD7TNFTNFTHBS1RUNX2FKBP1ASMAD6SPP1NOGTGFBR2MAPK9HRASSKITGIFTFE3ADAMTS10FSTCREBBPBAMBITGFBR2TGFBR3MAPK3SKILLTBP3NFKB1EP300LIFCTNNB1STAT3STAT1WNT1LEF1INHBATGFB1SMAD5ZNF423ZFYVE9EGFJAK1RUNX3TGFB1FBN1SMAD9LTBP1SERPINE1IFNGJUNSMAD1FOXH1BMP4ZFHX1BSMAD2SMAD3TGFBR1SMAD1MIR302ABMP4ENGTGFBR1ADAMTSL2ITGB6LEFTY1LEFTY22OMIM:609192Loeys-Dietz syndrome 1OMIM:610168Loeys-Dietz syndrome 2OMIM:131300Camurati-Engelmann diseaseOMIM:139210Myhre syndromeOMIM:601216Dental anomalies and short statureOMIM:617809Geleophysic dysplasia 3OMIM:131300Camurati-Engelmann disease


This diagram shows which skeletal dysplasias are caused by abnormalities in in TGF-beta signalling. The diagram is based on pathway: TGF-beta Receptor Signaling (Homo sapiens).

Dotted arrows indicates that a disease is caused by mutation in the respective gene.

The exact role of ADAMTS10 and ADAMTSL2 is currently unknown, they are known to interact with FBN1.

The Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, apoptosis, cellular homeostasis and other cellular functions. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression. (source: WikiPedia).

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Ontology Terms



  1. Massague J; ''How cells read TGF-beta signals.''; Nat Rev Mol Cell Biol, 2000 PubMed Europe PMC Scholia
  2. Ivey KN, Srivastava D; ''MicroRNAs as regulators of differentiation and cell fate decisions.''; Cell Stem Cell, 2010 PubMed Europe PMC Scholia
  3. Massague J, Blain SW, Lo RS; ''TGFbeta signaling in growth control, cancer, and heritable disorders.''; Cell, 2000 PubMed Europe PMC Scholia


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116440view09:44, 7 May 2021EweitzModified title
111739view17:36, 3 September 2020Khanspersreplaced free label with label on object, connected interaction
111738view17:29, 3 September 2020KhanspersOntology Term : 'altered transforming growth factor-beta signaling pathway' added !
110636view08:04, 23 May 2020Azanklminor cleanup
110635view07:25, 23 May 2020AzanklModified description
110634view07:21, 23 May 2020AzanklModified title
110632view06:43, 23 May 2020Azanklfixed unconnected line to GD3
109495view00:07, 20 March 2020RleeModified title
109329view23:03, 13 March 2020KhanspersModified description
109129view06:08, 18 February 2020RleeModified description
109126view06:02, 18 February 2020RleeModified description
109125view06:00, 18 February 2020RleeNew pathway

External references


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NameTypeDatabase referenceComment
ADAMTS10GeneProductENSG00000142303 (Ensembl)
ADAMTSL2GeneProductENSG00000197859 (Ensembl)
BAMBIGeneProduct25805 (Entrez Gene)
BMP4GeneProduct652 (Entrez Gene)
CREBBPGeneProduct1387 (Entrez Gene)
CTNNB1GeneProduct1499 (Entrez Gene)
EGFGeneProduct1950 (Entrez Gene)
ENGGeneProduct2022 (Entrez Gene)
EP300GeneProduct2033 (Entrez Gene)
FBN1GeneProductENSG00000166147 (Ensembl)
FKBP1AGeneProduct2280 (Entrez Gene)
FOSGeneProduct2353 (Entrez Gene)
FOXH1GeneProduct8928 (Entrez Gene)
FSTGeneProduct10468 (Entrez Gene)
HRASGeneProduct3265 (Entrez Gene)
IFNGGeneProduct3458 (Entrez Gene)
INHBAGeneProduct3624 (Entrez Gene)
ITGB6GeneProduct3694 (Entrez Gene)
JAK1GeneProduct3716 (Entrez Gene)
JUNGeneProduct3725 (Entrez Gene)
LEF1GeneProduct51176 (Entrez Gene)
LEFTY1GeneProduct10637 (Entrez Gene)
LEFTY2GeneProduct7044 (Entrez Gene)
LIFGeneProduct3976 (Entrez Gene)
LTBP1GeneProduct4052 (Entrez Gene)
LTBP3GeneProductENSG00000168056 (Ensembl)
MAPK3GeneProduct5595 (Entrez Gene)
MAPK9GeneProduct5601 (Entrez Gene)
MIR302AGeneProductENSG00000207927 (Ensembl)
NFKB1GeneProduct4790 (Entrez Gene)
NOGGeneProduct9241 (Entrez Gene)
RUNX2GeneProduct860 (Entrez Gene)
RUNX3GeneProduct864 (Entrez Gene)
SERPINE1GeneProduct5054 (Entrez Gene)
SKIGeneProduct6497 (Entrez Gene)
SKILGeneProduct6498 (Entrez Gene)
SMAD1GeneProduct4086 (Entrez Gene)
SMAD2GeneProduct4087 (Entrez Gene)
SMAD3GeneProduct4088 (Entrez Gene)
SMAD4GeneProduct4089 (Entrez Gene)
SMAD5GeneProduct4090 (Entrez Gene)
SMAD6GeneProduct4091 (Entrez Gene)
SMAD7GeneProduct4092 (Entrez Gene)
SMAD9GeneProduct4093 (Entrez Gene)
SPP1GeneProduct6696 (Entrez Gene)
STAT1GeneProduct6772 (Entrez Gene)
STAT3GeneProduct6774 (Entrez Gene)
TFE3GeneProduct7030 (Entrez Gene)
TGFB1GeneProduct7040 (Entrez Gene)
TGFBR1GeneProduct7046 (Entrez Gene)
TGFBR2GeneProduct7048 (Entrez Gene)
TGFBR3GeneProduct7049 (Entrez Gene)
TGIFGeneProduct7050 (Entrez Gene)
THBS1GeneProduct7057 (Entrez Gene) there are 5 types of tsp
TNFGeneProduct7124 (Entrez Gene)
WNT1GeneProduct7471 (Entrez Gene)
ZFHX1BGeneProduct9839 (Entrez Gene)
ZFYVE9GeneProduct9372 (Entrez Gene)
ZNF423GeneProduct23090 (Entrez Gene)

Annotated Interactions

No annotated interactions

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