TGFB1
transforming growth factor beta 1, the group of Transforming growth factor beta family
Basic information
Region (hg38): 19:41301586-41353922
Previous symbols: [ "TGFB", "DPD1" ]
Links
Phenotypes
GenCC
Source:
- Camurati-Engelmann disease (Definitive), mode of inheritance: AD
- Camurati-Engelmann disease (Strong), mode of inheritance: AD
- Camurati-Engelmann disease (Supportive), mode of inheritance: AD
- inflammatory bowel disease, immunodeficiency, and encephalopathy (Supportive), mode of inheritance: AR
- Camurati-Engelmann disease (Definitive), mode of inheritance: AD
- inflammatory bowel disease, immunodeficiency, and encephalopathy (Limited), mode of inheritance: AR
- Camurati-Engelmann disease (Strong), mode of inheritance: AD
- inflammatory bowel disease, immunodeficiency, and encephalopathy (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Camurati-Engelmann disease; Inflammatory bowel disease, immunodeficiency, and encephalopathy | AD/AR | Allergy/Immunology/Infectious; Musculoskeletal | In Camurati-Engelmann disease, medical management (eg, corticosteroids and/or losartan) may be beneficial to help with many manifestations, including pain, gait disturbances, anemia, hepatosplenomegaly, and exercise intolerance; In Inflammatory bowel disease, immunodeficiency, and encephalopathy, individuals have been reported with recurrent infections and immunologic manifestations affecting multiple organ systems, and awareness may allow management related to these sequelae | Allergy/Immunology/Infectious; Hematologic; Musculoskeletal; Neurologic | 5503688; 4461085; 7298693; 9054935; 11062463; 10973241; 11810278; 21462384; 12493741; 15326622; 15894597; 20301335; 29483653 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (286 variants)
- Diaphyseal dysplasia (9 variants)
- Inflammatory bowel disease, immunodeficiency, and encephalopathy (7 variants)
- not specified (6 variants)
- TGFB1-related condition (4 variants)
- Inborn genetic diseases (4 variants)
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Encephalopathy (2 variants)
- Diaphyseal dysplasia;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Cystic fibrosis (2 variants)
- Cystic fibrosis (1 variants)
- See cases (1 variants)
- Breast cancer, invasive, susceptibility to (1 variants)
- Cystic fibrosis;Inflammatory bowel disease, immunodeficiency, and encephalopathy;Diaphyseal dysplasia (1 variants)
- Encephalopathy;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome (1 variants)
- Meckel syndrome, type 10 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TGFB1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 54 | 60 | ||||
| missense | 130 | 144 | ||||
| nonsense | 3 | |||||
| start loss | 0 | |||||
| frameshift | 5 | |||||
| inframe indel | 8 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| splice region ? | 10 | 6 | 3 | 19 | ||
| non coding ? | 33 | 18 | 51 | |||
| Total | 2 | 6 | 150 | 92 | 23 |
Variants in TGFB1
This is a list of pathogenic ClinVar variants found in the TGFB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-41302716-T-C | not specified | Uncertain significance (Oct 06, 2021) | ||
| 19-41302728-G-A | not specified | Uncertain significance (Jun 01, 2023) | ||
| 19-41302753-G-T | not specified | Uncertain significance (Mar 04, 2024) | ||
| 19-41302892-C-T | not specified | Uncertain significance (Mar 22, 2023) | ||
| 19-41302893-G-A | not specified | Uncertain significance (Sep 12, 2023) | ||
| 19-41302898-G-A | not specified | Uncertain significance (May 17, 2023) | ||
| 19-41302911-G-A | not specified | Uncertain significance (Feb 27, 2023) | ||
| 19-41304089-C-T | not specified | Uncertain significance (Feb 12, 2024) | ||
| 19-41304104-C-T | not specified | Uncertain significance (Jan 03, 2022) | ||
| 19-41304214-A-G | not specified | Uncertain significance (Aug 22, 2023) | ||
| 19-41304236-C-G | not specified | Uncertain significance (Feb 27, 2023) | ||
| 19-41306521-G-C | not specified | Uncertain significance (Dec 14, 2022) | ||
| 19-41316524-G-T | not specified | Uncertain significance (Sep 14, 2023) | ||
| 19-41316665-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
| 19-41316684-G-A | not specified | Uncertain significance (Mar 11, 2024) | ||
| 19-41316705-T-A | not specified | Uncertain significance (Feb 06, 2023) | ||
| 19-41316717-G-A | not specified | Uncertain significance (Jan 08, 2024) | ||
| 19-41316728-C-A | not specified | Uncertain significance (Nov 03, 2023) | ||
| 19-41316729-G-A | not specified | Uncertain significance (Feb 17, 2024) | ||
| 19-41316732-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
| 19-41316759-G-A | not specified | Likely benign (Mar 28, 2022) | ||
| 19-41316773-C-T | not specified | Uncertain significance (Mar 17, 2023) | ||
| 19-41316806-C-T | not specified | Uncertain significance (May 27, 2022) | ||
| 19-41319579-G-A | not specified | Uncertain significance (Mar 06, 2023) | ||
| 19-41319615-C-T | not specified | Uncertain significance (Sep 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TGFB1 | protein_coding | protein_coding | ENST00000221930 | 7 | 52325 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0369 | 0.962 | 125742 | 0 | 6 | 125748 | 0.0000239 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.86 | 154 | 234 | 0.657 | 0.0000149 | 2457 |
| Missense in Polyphen | 35 | 85.116 | 0.4112 | 885 | ||
| Synonymous | 1.65 | 88 | 110 | 0.800 | 0.00000703 | 808 |
| Loss of Function | 2.80 | 6 | 19.3 | 0.311 | 0.00000120 | 198 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000578 | 0.0000578 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000273 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. {ECO:0000269|PubMed:29109152, ECO:0000303|PubMed:27252363}.; FUNCTION: Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains remain non- covalently linked rendering TGF-beta-1 inactive during storage in extracellular matrix (PubMed:29109152). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS that control activation of TGF-beta-1 and maintain it in a latent state during storage in extracellular milieus (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). TGF-beta-1 is released from LAP by integrins (ITGAV:ITGB6 or ITGAV:ITGB8): integrin-binding to LAP stabilizes an alternative conformation of the LAP bowtie tail and results in distortion of the LAP chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Once activated following release of LAP, TGF- beta-1 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (PubMed:20207738). While expressed by many cells types, TGF-beta-1 only has a very localized range of action within cell environment thanks to fine regulation of its activation by Latency-associated peptide chain (LAP) and 'milieu molecules' (By similarity). Plays an important role in bone remodeling: acts as a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Can promote either T- helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner (By similarity). At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development (By similarity). At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292). Can induce epithelial-to- mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292). {ECO:0000250|UniProtKB:P04202, ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484, ECO:0000269|PubMed:20207738, ECO:0000269|PubMed:2022183, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:25310401, ECO:0000269|PubMed:25893292, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:29109152, ECO:0000269|PubMed:8617200, ECO:0000269|PubMed:8939931}.;
- Disease
- DISEASE: Camurati-Engelmann disease (CAEND) [MIM:131300]: An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision. {ECO:0000269|PubMed:10973241, ECO:0000269|PubMed:11062463, ECO:0000269|PubMed:12493741, ECO:0000269|PubMed:12843182, ECO:0000269|PubMed:15103729}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);TGF-beta signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Cell cycle - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Malaria - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Intestinal immune network for IgA production - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;ACE Inhibitor Pathway, Pharmacodynamics;TGF-Core;Cell Cycle;MicroRNAs in cardiomyocyte hypertrophy;TFs Regulate miRNAs related to cardiac hypertrophy;Allograft Rejection;Interleukin-11 Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Adipogenesis;Cardiac Progenitor Differentiation;Spinal Cord Injury;Primary Focal Segmental Glomerulosclerosis FSGS;Cardiac Hypertrophic Response;Differentiation Pathway;Endoderm Differentiation;Dopaminergic Neurogenesis;IL-3 Signaling Pathway;Extracellular vesicle-mediated signaling in recipient cells;Aryl Hydrocarbon Receptor Pathway;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Lung fibrosis;Hepatitis C and Hepatocellular Carcinoma;TGF-beta Signaling Pathway;Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway;MAPK Signaling Pathway;Canonical and Non-Canonical TGF-B signaling;Protein alkylation leading to liver fibrosis;Pathways in clear cell renal cell carcinoma;Interleukin-4 and 13 signaling;Chromosomal and microsatellite instability in colorectal cancer;EMT transition in Colorectal Cancer;Type 2 papillary renal cell carcinoma;Endochondral Ossification;Cytokines and Inflammatory Response;ACE Inhibitor Pathway;TGF-beta Receptor Signaling;Senescence and Autophagy in Cancer;T-Cell antigen Receptor (TCR) Signaling Pathway;DNA Damage Response (only ATM dependent);Regulation of RUNX3 expression and activity;Disease;Signal Transduction;Gene expression (Transcription);RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;cell cycle: g1/s check point;signal transduction through il1r;alk in cardiac myocytes;nfkb activation by nontypeable hemophilus influenzae;ctcf: first multivalent nuclear factor;Generic Transcription Pathway;IL12 signaling mediated by STAT4;Post-translational protein modification;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Influenza Virus Induced Apoptosis;Host Interactions with Influenza Factors;Influenza Infection;RNA Polymerase II Transcription;Extracellular matrix organization;Infectious disease;Molecules associated with elastic fibres;Elastic fibre formation;TGF-beta super family signaling pathway canonical;GPCR signaling-G alpha s Epac and ERK;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;GPCR signaling-G alpha s PKA and ERK;UCH proteinases;TGF_beta_Receptor;tgf beta signaling pathway;Cell surface interactions at the vascular wall;Hemostasis;Deubiquitination;RXR and RAR heterodimerization with other nuclear receptor;Syndecan interactions;Non-integrin membrane-ECM interactions;TGFBR2 Kinase Domain Mutants in Cancer;ECM proteoglycans;TGF-beta signaling TAK1;GPCR signaling-G alpha i;SMAD2/3 Phosphorylation Motif Mutants in Cancer;SMAD2/3 MH2 Domain Mutants in Cancer;Loss of Function of SMAD2/3 in Cancer;Loss of Function of TGFBR2 in Cancer;TGFBR1 KD Mutants in Cancer;Loss of Function of TGFBR1 in Cancer;Signaling by TGF-beta Receptor Complex in Cancer;Signaling by TGF-beta Receptor Complex;BMP2 signaling TGF-beta MV;Signaling by TGF-beta family members;Downregulation of TGF-beta receptor signaling;TGF-beta receptor signaling activates SMADs;IL27-mediated signaling events;ALK1 signaling events;Diseases of signal transduction;Glypican 1 network;Regulation of Telomerase;AP-1 transcription factor network;Syndecan-1-mediated signaling events;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling;TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition);TGF-beta receptor signaling;Syndecan-2-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.998
Intolerance Scores
- loftool
- 0.219
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 44.89
Haploinsufficiency Scores
- pHI
- 0.721
- hipred
- Y
- hipred_score
- 0.831
- ghis
- 0.576
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.997
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tgfb1
- Phenotype
- immune system phenotype; renal/urinary system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm; embryo phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; craniofacial phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- tgfb1a
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- obsolete protein import into nucleus, translocation;negative regulation of transcription by RNA polymerase II;MAPK cascade;vasculogenesis;ureteric bud development;response to hypoxia;epithelial to mesenchymal transition;neural tube closure;negative regulation of protein phosphorylation;positive regulation of protein phosphorylation;regulation of sodium ion transport;chondrocyte differentiation;hematopoietic progenitor cell differentiation;connective tissue replacement involved in inflammatory response wound healing;adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains;tolerance induction to self antigen;platelet degranulation;heart valve morphogenesis;aortic valve morphogenesis;protein phosphorylation;protein export from nucleus;ATP biosynthetic process;phosphate-containing compound metabolic process;cellular calcium ion homeostasis;inflammatory response;cell cycle arrest;mitotic cell cycle checkpoint;epidermal growth factor receptor signaling pathway;transforming growth factor beta receptor signaling pathway;common-partner SMAD protein phosphorylation;SMAD protein complex assembly;Notch signaling pathway;negative regulation of neuroblast proliferation;salivary gland morphogenesis;endoderm development;heart development;female pregnancy;aging;positive regulation of cell population proliferation;negative regulation of cell population proliferation;germ cell migration;response to wounding;response to glucose;defense response to fungus, incompatible interaction;regulation of signaling receptor activity;positive regulation of vascular endothelial growth factor production;positive regulation of gene expression;negative regulation of gene expression;negative regulation of extracellular matrix disassembly;positive regulation of epithelial to mesenchymal transition;macrophage derived foam cell differentiation;positive regulation of fibroblast migration;positive regulation of peptidyl-threonine phosphorylation;positive regulation of pathway-restricted SMAD protein phosphorylation;negative regulation of macrophage cytokine production;oligodendrocyte development;positive regulation of microglia differentiation;regulation of striated muscle tissue development;cell migration;regulation of transforming growth factor beta receptor signaling pathway;evasion or tolerance of host defenses by virus;cytokine-mediated signaling pathway;neural tube development;negative regulation of cell-cell adhesion;hyaluronan catabolic process;negative regulation of ossification;negative regulation of cell growth;osteoclast differentiation;regulation of cell migration;positive regulation of cell migration;positive regulation of bone mineralization;negative regulation of transforming growth factor beta receptor signaling pathway;positive regulation of histone deacetylation;membrane protein intracellular domain proteolysis;positive regulation of protein complex assembly;positive regulation of exit from mitosis;lipopolysaccharide-mediated signaling pathway;positive regulation of cellular protein metabolic process;response to estradiol;response to progesterone;regulation of interleukin-23 production;negative regulation of interleukin-17 production;positive regulation of interleukin-17 production;receptor catabolic process;positive regulation of superoxide anion generation;mononuclear cell proliferation;positive regulation of collagen biosynthetic process;positive regulation of peptidyl-serine phosphorylation;response to vitamin D;response to laminar fluid shear stress;positive regulation of histone acetylation;positive regulation of protein dephosphorylation;response to immobilization stress;regulation of cell population proliferation;negative regulation of T cell proliferation;regulation of protein import into nucleus;positive regulation of protein import into nucleus;positive regulation of odontogenesis;myelination;regulation of apoptotic process;myeloid dendritic cell differentiation;T cell homeostasis;positive regulation of apoptotic process;positive regulation of vascular permeability;positive regulation of MAP kinase activity;regulation of MAPK cascade;protein kinase B signaling;positive regulation of blood vessel endothelial cell migration;negative regulation of blood vessel endothelial cell migration;positive regulation of phosphatidylinositol 3-kinase activity;ossification involved in bone remodeling;regulatory T cell differentiation;cell-cell junction organization;positive regulation of regulatory T cell differentiation;negative regulation of cell differentiation;negative regulation of fat cell differentiation;negative regulation of myoblast differentiation;negative regulation of cell cycle;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;negative regulation of mitotic cell cycle;positive regulation of transcription by RNA polymerase II;positive regulation of fibroblast proliferation;positive regulation of isotype switching to IgA isotypes;cell development;lymph node development;digestive tract development;negative regulation of skeletal muscle tissue development;inner ear development;positive regulation of epithelial cell proliferation;negative regulation of epithelial cell proliferation;positive regulation of protein secretion;positive regulation of peptidyl-tyrosine phosphorylation;negative regulation of phagocytosis;leukocyte migration;positive regulation of chemotaxis;positive regulation of NF-kappaB transcription factor activity;regulation of binding;regulation of DNA binding;positive regulation of smooth muscle cell differentiation;negative regulation of release of sequestered calcium ion into cytosol;positive regulation of cell division;positive regulation of protein kinase B signaling;ventricular cardiac muscle tissue morphogenesis;regulation of blood vessel remodeling;face morphogenesis;frontal suture morphogenesis;pathway-restricted SMAD protein phosphorylation;regulation of SMAD protein signal transduction;positive regulation of SMAD protein signal transduction;SMAD protein signal transduction;mammary gland branching involved in thelarche;branch elongation involved in mammary gland duct branching;regulation of branching involved in mammary gland duct morphogenesis;negative regulation of gene silencing by miRNA;regulation of cartilage development;negative regulation of biomineral tissue development;lens fiber cell differentiation;positive regulation of ERK1 and ERK2 cascade;response to cholesterol;positive regulation of cell cycle arrest;cellular response to mechanical stimulus;cellular response to organic cyclic compound;cellular response to ionizing radiation;cellular response to dexamethasone stimulus;cellular response to transforming growth factor beta stimulus;positive regulation of mononuclear cell migration;extracellular matrix assembly;positive regulation of branching involved in ureteric bud morphogenesis;extrinsic apoptotic signaling pathway;liver regeneration;negative regulation of hyaluronan biosynthetic process;positive regulation of protein localization to nucleus;positive regulation of extracellular matrix assembly;positive regulation of NAD+ ADP-ribosyltransferase activity;response to salt;regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of pri-miRNA transcription by RNA polymerase II;negative regulation of protein localization to plasma membrane;negative regulation of production of miRNAs involved in gene silencing by miRNA;positive regulation of production of miRNAs involved in gene silencing by miRNA;positive regulation of receptor clustering;regulation of epithelial to mesenchymal transition involved in endocardial cushion formation;transforming growth factor beta receptor signaling pathway involved in heart development;cellular response to insulin-like growth factor stimulus;embryonic liver development;regulation of actin cytoskeleton reorganization;positive regulation of transcription regulatory region DNA binding;positive regulation of cardiac muscle cell differentiation
- Cellular component
- extracellular region;extracellular space;nucleus;cytoplasm;Golgi lumen;plasma membrane;microvillus;cell surface;axon;extracellular matrix;platelet alpha granule lumen;neuronal cell body;collagen-containing extracellular matrix;blood microparticle
- Molecular function
- antigen binding;type II transforming growth factor beta receptor binding;cytokine activity;transforming growth factor beta receptor binding;protein binding;growth factor activity;enzyme binding;type I transforming growth factor beta receptor binding;type III transforming growth factor beta receptor binding;identical protein binding;protein homodimerization activity;protein serine/threonine kinase activator activity;protein heterodimerization activity;protein N-terminus binding