ENSG00000105329


Homo sapiens

Features
Gene ID: ENSG00000105329
  
Biological name :TGFB1
  
Synonyms : P01137 / TGFB1 / transforming growth factor beta 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.2
Gene start: 41301587
Gene end: 41353911
  
Corresponding Affymetrix probe sets: 203084_at (Human Genome U133 Plus 2.0 Array)   203085_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000221930
Ensembl peptide - ENSP00000472767
NCBI entrez gene - 7040     See in Manteia.
OMIM - 190180
RefSeq - XM_011527242
RefSeq - NM_000660
RefSeq Peptide - NP_000651
swissprot - P01137
swissprot - M0R2S0
Ensembl - ENSG00000105329
  
Related genetic diseases (OMIM): 131300 - Camurati-Engelmann disease, 131300
  219700 - {Cystic fibrosis lung disease, modifier of}, 219700
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
 tgfb1aENSDARG00000041502Danio rerio
 tgfb1bENSDARG00000034895Danio rerio
 Tgfb1ENSMUSG00000002603Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TGFB3 / P10600 / transforming growth factor beta 3ENSG0000011969947
TGFB2 / P61812 / transforming growth factor beta 2ENSG0000009296945
MSTN / O14793 / myostatinENSG0000013837926
GDF11 / O95390 / growth differentiation factor 11ENSG0000013541425
INHBE / P58166 / inhibin beta E subunitENSG0000013926922
INHBA / P08476 / inhibin beta A subunitENSG0000012264122
INHBB / P09529 / inhibin beta B subunitENSG0000016308319
INHBC / P55103 / inhibin beta C subunitENSG0000017518918
GDF3 / Q9NR23 / growth differentiation factor 3ENSG0000018434418
BMP3 / P12645 / bone morphogenetic protein 3ENSG0000015278517
NODAL / Q96S42 / nodal growth differentiation factorENSG0000015657417
BMP15 / O95972 / bone morphogenetic protein 15ENSG0000013038516
GDF1 / P27539 / growth differentiation factor 1ENSG0000013028316
CERS1 / P27544 / ceramide synthase 1ENSG0000022380216
GDF10 / P55107 / growth differentiation factor 10ENSG0000026652415
GDF9 / O60383 / growth differentiation factor 9ENSG0000016440414
GDF15 / Q99988 / growth differentiation factor 15ENSG0000013051312


Protein motifs (from Interpro)
Interpro ID Name
 IPR001111  TGF-beta, propeptide
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR003939  Transforming growth factor, beta 1
 IPR015615  Transforming growth factor-beta-related
 IPR016319  Transforming growth factor-beta
 IPR017948  Transforming growth factor beta, conserved site
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000060 protein import into nucleus, translocation IDA
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0000165 MAPK cascade IMP
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001763 morphogenesis of a branching structure IEA
 biological_processGO:0001775 cell activation IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0001933 negative regulation of protein phosphorylation IDA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0002028 regulation of sodium ion transport IEA
 biological_processGO:0002062 chondrocyte differentiation IDA
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IDA
 biological_processGO:0002248 connective tissue replacement involved in inflammatory response wound healing TAS
 biological_processGO:0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains IEA
 biological_processGO:0002513 tolerance induction to self antigen IEA
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0003179 heart valve morphogenesis IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006611 protein export from nucleus IDA
 biological_processGO:0006754 ATP biosynthetic process IDA
 biological_processGO:0006796 phosphate-containing compound metabolic process IDA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0007093 mitotic cell cycle checkpoint IDA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway IDA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0007182 common-partner SMAD protein phosphorylation IDA
 biological_processGO:0007183 SMAD protein complex assembly IDA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007406 negative regulation of neuroblast proliferation IEA
 biological_processGO:0007435 salivary gland morphogenesis IEP
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0008156 negative regulation of DNA replication IMP
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0008354 germ cell migration IEA
 biological_processGO:0009314 response to radiation IEA
 biological_processGO:0009611 response to wounding IEP
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0009817 defense response to fungus, incompatible interaction IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production TAS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IGI
 biological_processGO:0010716 negative regulation of extracellular matrix disassembly IC
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0010742 macrophage derived foam cell differentiation IC
 biological_processGO:0010763 positive regulation of fibroblast migration IEA
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation IDA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA
 biological_processGO:0010936 negative regulation of macrophage cytokine production IDA
 biological_processGO:0014003 oligodendrocyte development IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016049 cell growth IEA
 biological_processGO:0016202 regulation of striated muscle tissue development IEA
 biological_processGO:0016477 cell migration IDA
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway IDA
 biological_processGO:0019049 evasion or tolerance of host defenses by virus IDA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0022408 negative regulation of cell-cell adhesion IDA
 biological_processGO:0030214 hyaluronan catabolic process IDA
 biological_processGO:0030217 T cell differentiation IEA
 biological_processGO:0030279 negative regulation of ossification IEA
 biological_processGO:0030308 negative regulation of cell growth IEA
 biological_processGO:0030334 regulation of cell migration TAS
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0030501 positive regulation of bone mineralization IEP
 biological_processGO:0030509 BMP signaling pathway IBA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0030879 mammary gland development IEA
 biological_processGO:0031065 positive regulation of histone deacetylation IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0031293 membrane protein intracellular domain proteolysis IDA
 biological_processGO:0031334 positive regulation of protein complex assembly IDA
 biological_processGO:0031536 positive regulation of exit from mitosis IEA
 biological_processGO:0031663 lipopolysaccharide-mediated signaling pathway IDA
 biological_processGO:0032270 positive regulation of cellular protein metabolic process IDA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032570 response to progesterone IDA
 biological_processGO:0032667 regulation of interleukin-23 production IEA
 biological_processGO:0032700 negative regulation of interleukin-17 production IEA
 biological_processGO:0032740 positive regulation of interleukin-17 production IDA
 biological_processGO:0032801 receptor catabolic process IDA
 biological_processGO:0032930 positive regulation of superoxide anion generation IDA
 biological_processGO:0032943 mononuclear cell proliferation IEA
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IDA
 biological_processGO:0033280 response to vitamin D IEA
 biological_processGO:0034616 response to laminar fluid shear stress IEA
 biological_processGO:0035066 positive regulation of histone acetylation IEA
 biological_processGO:0035307 positive regulation of protein dephosphorylation IDA
 biological_processGO:0035902 response to immobilization stress IEA
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0042110 T cell activation IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042130 negative regulation of T cell proliferation IEA
 biological_processGO:0042306 regulation of protein import into nucleus IEA
 biological_processGO:0042307 positive regulation of protein import into nucleus IDA
 biological_processGO:0042482 positive regulation of odontogenesis IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042552 myelination IEA
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043011 myeloid dendritic cell differentiation IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043117 positive regulation of vascular permeability IDA
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0043491 protein kinase B signaling IMP
 biological_processGO:0043536 positive regulation of blood vessel endothelial cell migration IDA
 biological_processGO:0043537 negative regulation of blood vessel endothelial cell migration IDA
 biological_processGO:0043552 positive regulation of phosphatidylinositol 3-kinase activity IDA
 biological_processGO:0043932 ossification involved in bone remodeling IEP
 biological_processGO:0045066 regulatory T cell differentiation IEA
 biological_processGO:0045216 cell-cell junction organization IDA
 biological_processGO:0045589 regulation of regulatory T cell differentiation IEA
 biological_processGO:0045591 positive regulation of regulatory T cell differentiation IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEP
 biological_processGO:0045599 negative regulation of fat cell differentiation IDA
 biological_processGO:0045662 negative regulation of myoblast differentiation IDA
 biological_processGO:0045786 negative regulation of cell cycle IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045930 negative regulation of mitotic cell cycle IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046732 active induction of host immune response by virus TAS
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0048298 positive regulation of isotype switching to IgA isotypes IDA
 biological_processGO:0048468 cell development IBA
 biological_processGO:0048535 lymph node development IEA
 biological_processGO:0048565 digestive tract development IEA
 biological_processGO:0048642 negative regulation of skeletal muscle tissue development IDA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0050714 positive regulation of protein secretion IDA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0050765 negative regulation of phagocytosis IEA
 biological_processGO:0050777 negative regulation of immune response IEA
 biological_processGO:0050868 negative regulation of T cell activation IEA
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0050921 positive regulation of chemotaxis IDA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0051098 regulation of binding IEA
 biological_processGO:0051101 regulation of DNA binding IEA
 biological_processGO:0051152 positive regulation of smooth muscle cell differentiation IEA
 biological_processGO:0051280 negative regulation of release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051781 positive regulation of cell division IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IEA
 biological_processGO:0060312 regulation of blood vessel remodeling NAS
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0060364 frontal suture morphogenesis IEA
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation IEA
 biological_processGO:0060390 regulation of SMAD protein signal transduction IDA
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction IDA
 biological_processGO:0060395 SMAD protein signal transduction IBA
 biological_processGO:0060744 mammary gland branching involved in thelarche IEA
 biological_processGO:0060751 branch elongation involved in mammary gland duct branching IEA
 biological_processGO:0060762 regulation of branching involved in mammary gland duct morphogenesis IEA
 biological_processGO:0060965 negative regulation of gene silencing by miRNA IGI
 biological_processGO:0061035 regulation of cartilage development IEA
 biological_processGO:0070306 lens fiber cell differentiation IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
 biological_processGO:0070723 response to cholesterol IDA
 biological_processGO:0071158 positive regulation of cell cycle arrest IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IDA
 biological_processGO:0071479 cellular response to ionizing radiation IEA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:0071677 positive regulation of mononuclear cell migration IEA
 biological_processGO:0085029 extracellular matrix assembly IDA
 biological_processGO:0090190 positive regulation of branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:1900126 negative regulation of hyaluronan biosynthetic process IDA
 biological_processGO:1900182 positive regulation of protein localization to nucleus IEA
 biological_processGO:1901203 positive regulation of extracellular matrix assembly IC
 biological_processGO:1901666 positive regulation of NAD+ ADP-ribosyltransferase activity IDA
 biological_processGO:1902074 response to salt IEA
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IDA
 biological_processGO:1903077 negative regulation of protein localization to plasma membrane IDA
 biological_processGO:1903799 negative regulation of production of miRNAs involved in gene silencing by miRNA IGI
 biological_processGO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNA IDA
 biological_processGO:1903911 positive regulation of receptor clustering IEA
 biological_processGO:1905313 transforming growth factor beta receptor signaling pathway involved in heart development IEA
 biological_processGO:1990314 cellular response to insulin-like growth factor stimulus IEA
 biological_processGO:1990402 embryonic liver development IEA
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization IEA
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IDA
 biological_processGO:2000727 positive regulation of cardiac muscle cell differentiation IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005902 microvillus IDA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0030141 secretory granule IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0003823 antigen binding IPI
 molecular_functionGO:0005114 type II transforming growth factor beta receptor binding IPI
 molecular_functionGO:0005125 cytokine activity TAS
 molecular_functionGO:0005160 transforming growth factor beta receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0034713 type I transforming growth factor beta receptor binding IPI
 molecular_functionGO:0034714 type III transforming growth factor beta receptor binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043539 protein serine/threonine kinase activator activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Influenza Virus Induced Apoptosis
Cell surface interactions at the vascular wall
Molecules associated with elastic fibres
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Syndecan interactions
ECM proteoglycans
SMAD2/3 Phosphorylation Motif Mutants in Cancer
SMAD2/3 MH2 Domain Mutants in Cancer
TGFBR2 MSI Frameshift Mutants in Cancer
TGFBR2 Kinase Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
TGFBR1 LBD Mutants in Cancer
Transcriptional regulation of white adipocyte differentiation
UCH proteinases
Interleukin-4 and Interleukin-13 signaling
RUNX3 regulates CDKN1A transcription
Regulation of RUNX3 expression and activity
RUNX3 regulates p14-ARF


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000016 Urinary retention 
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000520 Proptosis 
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 HP:0000648 Optic atrophy 
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 HP:0000651 Diplopia "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators]
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 HP:0000670 Carious teeth 
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0000823 Delayed puberty 
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001376 Decreased mobility of joints 
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 HP:0001533 Asthenic habitus "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators]
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0001882 Leukopenia 
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 HP:0001903 Anemia 
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 HP:0001999 Facial dysmorphism 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002024 Malabsorption 
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 HP:0002039 Anorexia 
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 HP:0002167 Neurological speech impairment 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002515 Waddling gait 
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 HP:0002613 Biliary cirrhosis 
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 HP:0002644 Abnormality of the pelvis "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002673 Coxa valga "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators]
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 HP:0002694 Sclerotic skull base 
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 HP:0002721 Immunodeficiency 
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 HP:0002808 Kyphosis 
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 HP:0002857 Genu valgum 
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 HP:0002992 Abnormality of the tibia "Abnormality of the tibia (shinbone)." [HPO:curators]
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 HP:0002997 Abnormality of the ulna "Ab abnormality of the ulna bone of the forearm." [HPO:curators]
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 HP:0003034 Diaphyseal sclerosis 
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 HP:0003063 Abnormality of the humerus "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003307 Hyperlordosis 
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 HP:0003388 Easy fatigability 
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 HP:0003565 Elevated erythrocyte sedimentation rate 
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 HP:0003621 Juvenile onset 
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 HP:0003758 Reduced subcutaneous adipose tissue "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators]
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004326 Cachexia 
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 HP:0004396 Poor appetite 
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 HP:0005464 Craniofacial hyperostosis and sclerosis 
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 HP:0005528 Bone marrow hypoplasia 
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 HP:0005791 Cortical thickening of long bone diaphyses "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators]
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 HP:0006501 Aplasia/Hypoplasia of the radius "A small/hypoplastic or absent/aplastic radius." [HPO:curators]
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 HP:0007552 Abnormal subcutaneous fat tissue distribution 
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 HP:0007807 Optic nerve compression 
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 HP:0008872 Feeding problems in infancy 
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 HP:0009763 Limb pain "Chronic pain in the limbs with no clear focal etiology." [HPO:curators]
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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 HP:0012544 Elevated aldolase level "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432]
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 HP:0100255 Metaphyseal dysplasia "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken]
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 HP:0100774 Hyperostosis "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023734 STRAP / Q9Y3F4 / serine/threonine kinase receptor associated protein  / complex / reaction
 ENSG00000090006 LTBP4 / Q8N2S1 / latent transforming growth factor beta binding protein 4  / reaction / complex
 ENSG00000186298 P36873 / PPP1CC / protein phosphatase 1 catalytic subunit gamma  / reaction / complex
 ENSG00000049323 LTBP1 / Q14766 / latent transforming growth factor beta binding protein 1  / complex / reaction
 ENSG00000168056 LTBP3 / Q9NS15 / latent transforming growth factor beta binding protein 3  / reaction / complex
 ENSG00000231924 PSG1 / P11464 / pregnancy specific beta-1-glycoprotein 1  / reaction / complex
 ENSG00000106799 P36897 / TGFBR1 / transforming growth factor beta receptor 1  / complex / reaction
 ENSG00000182492 BGN / P21810 / biglycan  / reaction / complex
 ENSG00000122176 FMOD / Q06828 / fibromodulin  / reaction / complex
 ENSG00000157077 O95405 / ZFYVE9 / zinc finger FYVE-type containing 9  / complex / reaction
 ENSG00000088832 FKBP1A / P62942 / FK506 binding protein 1A  / reaction
 ENSG00000011465 DCN / P07585 / decorin  / reaction / complex
 ENSG00000172531 P62136 / PPP1CA / protein phosphatase 1 catalytic subunit alpha  / complex / reaction
 ENSG00000166949 SMAD3 / P84022 / SMAD family member 3  / reaction
 ENSG00000213639 P62140 / PPP1CB / protein phosphatase 1 catalytic subunit beta  / reaction / complex
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / reaction / complex
 ENSG00000087074 O75807 / PPP1R15A / protein phosphatase 1 regulatory subunit 15A  / complex / reaction
 ENSG00000105329 TGFB1 / P01137 / transforming growth factor beta 1  / complex
 ENSG00000175387 SMAD2 / Q15796 / SMAD family member 2  / reaction
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000049759 NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / complex / reaction
 ENSG00000140564 FURIN / P09958 / furin, paired basic amino acid cleaving enzyme  / reaction
 ENSG00000135655 USP15 / Q9Y4E8 / ubiquitin specific peptidase 15  / complex / reaction
 ENSG00000163513 P37173 / TGFBR2 / transforming growth factor beta receptor 2  / reaction / complex
 ENSG00000116750 UCHL5 / Q9Y5K5 / ubiquitin C-terminal hydrolase L5  / complex / reaction
 ENSG00000095739 BAMBI / Q13145 / BMP and activin membrane bound inhibitor  / reaction / complex






 

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