Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TGFB3 (transforming growth factor beta 3)

Identity

Other namesARVD
ARVD1
LDS5
RNHF
TGF-beta3
HGNC (Hugo) TGFB3
LocusID (NCBI) 7043
Atlas_Id 42538
Location 14q24.3
Location_base_pair Starts at 76424440 and ends at 76448365 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MKX (10p12.1) / TGFB3 (14q24.3)TGFB3 (14q24.3) / TGFB3 (14q24.3)TGFB3 (14q24.3) / THEM4 (1q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Colon: Colorectal adenocarcinoma
Kidney: Clear cell sarcoma with t(10;17)(q22;p13) YWHAE/NUTM2E

External links

Nomenclature
HGNC (Hugo)TGFB3   11769
Cards
Entrez_Gene (NCBI)TGFB3  7043  transforming growth factor beta 3
AliasesARVD; ARVD1; LDS5; RNHF; 
TGF-beta3
GeneCards (Weizmann)TGFB3
Ensembl hg19 (Hinxton)ENSG00000119699 [Gene_View]  chr14:76424440-76448365 [Contig_View]  TGFB3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000119699 [Gene_View]  chr14:76424440-76448365 [Contig_View]  TGFB3 [Vega]
ICGC DataPortalENSG00000119699
TCGA cBioPortalTGFB3
AceView (NCBI)TGFB3
Genatlas (Paris)TGFB3
WikiGenes7043
SOURCE (Princeton)TGFB3
Genomic and cartography
GoldenPath hg19 (UCSC)TGFB3  -     chr14:76424440-76448365 -  14q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TGFB3  -     14q24.3   [Description]    (hg38-Dec_2013)
EnsemblTGFB3 - 14q24.3 [CytoView hg19]  TGFB3 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBITGFB3 [Mapview hg19]  TGFB3 [Mapview hg38]
OMIM107970   190230   615582   
Gene and transcription
Genbank (Entrez)AA778162 AK122902 AK313564 BC018503 BT007287
RefSeq transcript (Entrez)NM_003239
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_011715 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)TGFB3
Cluster EST : UnigeneHs.713281 [ NCBI ]
CGAP (NCI)Hs.713281
Alternative Splicing GalleryENSG00000119699
Gene ExpressionTGFB3 [ NCBI-GEO ]   TGFB3 [ EBI - ARRAY_EXPRESS ]   TGFB3 [ SEEK ]   TGFB3 [ MEM ]
Gene Expression Viewer (FireBrowse)TGFB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7043
GTEX Portal (Tissue expression)TGFB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10600 (Uniprot)
NextProtP10600  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10600
Splice isoforms : SwissVarP10600 (Swissvar)
PhosPhoSitePlusP10600
Domaine pattern : Prosite (Expaxy)TGF_BETA_1 (PS00250)    TGF_BETA_2 (PS51362)   
Domains : Interpro (EBI)Cystine-knot_cytokine    TGF-b_C    TGF-b_N    TGF-beta    TGF-beta-rel    TGFB3    TGFb_CS   
Domain families : Pfam (Sanger)TGF_beta (PF00019)    TGFb_propeptide (PF00688)   
Domain families : Pfam (NCBI)pfam00019    pfam00688   
Domain families : Smart (EMBL)TGFB (SM00204)  
DMDM Disease mutations7043
Blocks (Seattle)TGFB3
PDB (SRS)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
PDB (PDBSum)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
PDB (IMB)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
PDB (RSDB)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
Structural Biology KnowledgeBase1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
SCOP (Structural Classification of Proteins)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
CATH (Classification of proteins structures)1KTZ    1TGJ    1TGK    2PJY    3EO1    4UM9   
SuperfamilyP10600
Human Protein AtlasENSG00000119699
Peptide AtlasP10600
HPRD01829
IPIIPI00021780   IPI01025810   
Protein Interaction databases
DIP (DOE-UCLA)P10600
IntAct (EBI)P10600
FunCoupENSG00000119699
BioGRIDTGFB3
STRING (EMBL)TGFB3
ZODIACTGFB3
Ontologies - Pathways
QuickGOP10600
Ontology : AmiGOactivation of MAPK activity  response to hypoxia  in utero embryonic development  platelet degranulation  type II transforming growth factor beta receptor binding  type II transforming growth factor beta receptor binding  type II transforming growth factor beta receptor binding  cytokine activity  protein binding  extracellular region  extracellular space  nucleus  plasma membrane  transforming growth factor beta receptor signaling pathway  SMAD protein import into nucleus  salivary gland morphogenesis  female pregnancy  aging  growth factor activity  negative regulation of DNA replication  negative regulation of cell proliferation  cell surface  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of macrophage cytokine production  cell growth  T-tubule  positive regulation of bone mineralization  negative regulation of transforming growth factor beta receptor signaling pathway  mammary gland development  extracellular matrix  platelet alpha granule lumen  response to progesterone  positive regulation of collagen biosynthetic process  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  type III transforming growth factor beta receptor binding  wound healing  regulation of cell proliferation  odontogenesis  uterine wall breakdown  identical protein binding  regulation of apoptotic process  neuronal cell body  positive regulation of apoptotic process  regulation of MAPK cascade  negative regulation of neuron apoptotic process  response to estrogen  ossification involved in bone remodeling  cell-cell junction organization  positive regulation of DNA replication  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  lung alveolus development  digestive tract development  embryonic neurocranium morphogenesis  inner ear development  transforming growth factor beta binding  positive regulation of protein secretion  positive regulation of filopodium assembly  positive regulation of cell division  palate development  face morphogenesis  frontal suture morphogenesis  positive regulation of SMAD protein import into nucleus  SMAD protein signal transduction  detection of hypoxia  regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  
Ontology : EGO-EBIactivation of MAPK activity  response to hypoxia  in utero embryonic development  platelet degranulation  type II transforming growth factor beta receptor binding  type II transforming growth factor beta receptor binding  type II transforming growth factor beta receptor binding  cytokine activity  protein binding  extracellular region  extracellular space  nucleus  plasma membrane  transforming growth factor beta receptor signaling pathway  SMAD protein import into nucleus  salivary gland morphogenesis  female pregnancy  aging  growth factor activity  negative regulation of DNA replication  negative regulation of cell proliferation  cell surface  positive regulation of epithelial to mesenchymal transition  positive regulation of epithelial to mesenchymal transition  positive regulation of pathway-restricted SMAD protein phosphorylation  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of macrophage cytokine production  cell growth  T-tubule  positive regulation of bone mineralization  negative regulation of transforming growth factor beta receptor signaling pathway  mammary gland development  extracellular matrix  platelet alpha granule lumen  response to progesterone  positive regulation of collagen biosynthetic process  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  type III transforming growth factor beta receptor binding  wound healing  regulation of cell proliferation  odontogenesis  uterine wall breakdown  identical protein binding  regulation of apoptotic process  neuronal cell body  positive regulation of apoptotic process  regulation of MAPK cascade  negative regulation of neuron apoptotic process  response to estrogen  ossification involved in bone remodeling  cell-cell junction organization  positive regulation of DNA replication  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  lung alveolus development  digestive tract development  embryonic neurocranium morphogenesis  inner ear development  transforming growth factor beta binding  positive regulation of protein secretion  positive regulation of filopodium assembly  positive regulation of cell division  palate development  face morphogenesis  frontal suture morphogenesis  positive regulation of SMAD protein import into nucleus  SMAD protein signal transduction  detection of hypoxia  regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  
Pathways : BIOCARTACell Cycle: G1/S Check Point [Genes]    ALK in cardiac myocytes [Genes]    Erythrocyte Differentiation Pathway [Genes]    Role of Tob in T-cell activation [Genes]    Function of SLRP in Bone: An Integrated View [Genes]    p38 MAPK Signaling Pathway [Genes]    Signal transduction through IL1R [Genes]    Selective expression of chemokine receptors during T-cell polarization [Genes]    Cytokines and Inflammatory Response [Genes]    MAPKinase Signaling Pathway [Genes]    TGF beta signaling pathway [Genes]    CTCF: First Multivalent Nuclear Factor [Genes]   
Pathways : KEGGMAPK signaling pathway    Cytokine-cytokine receptor interaction    FoxO signaling pathway    Cell cycle    Endocytosis    TGF-beta signaling pathway    Hippo signaling pathway    Leishmaniasis    Chagas disease (American trypanosomiasis)    Malaria    Toxoplasmosis    Amoebiasis    Tuberculosis    Hepatitis B    HTLV-I infection    Pathways in cancer    Colorectal cancer    Renal cell carcinoma    Pancreatic cancer    Chronic myeloid leukemia    Inflammatory bowel disease (IBD)    Rheumatoid arthritis    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx Network
Atlas of Cancer Signalling NetworkTGFB3
Wikipedia pathwaysTGFB3
Orthology - Evolution
OrthoDB7043
GeneTree (enSembl)ENSG00000119699
Phylogenetic Trees/Animal Genes : TreeFamTGFB3
Homologs : HomoloGeneTGFB3
Homology/Alignments : Family Browser (UCSC)TGFB3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTGFB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TGFB3
dbVarTGFB3
ClinVarTGFB3
1000_GenomesTGFB3 
Exome Variant ServerTGFB3
ExAC (Exome Aggregation Consortium)TGFB3 (select the gene name)
Genetic variants : HAPMAP7043
Genomic Variants (DGV)TGFB3 [DGVbeta]
Mutations
ICGC Data PortalTGFB3 
TCGA Data PortalTGFB3 
Broad Tumor PortalTGFB3
OASIS PortalTGFB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTGFB3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch TGFB3
DgiDB (Drug Gene Interaction Database)TGFB3
DoCM (Curated mutations)TGFB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TGFB3 (select a term)
intoGenTGFB3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:76424440-76448365  ENSG00000119699
CONAN: Copy Number AnalysisTGFB3 
Mutations and Diseases : HGMDTGFB3
OMIM107970    190230    615582   
MedgenTGFB3
Genetic Testing Registry TGFB3
NextProtP10600 [Medical]
TSGene7043
GENETestsTGFB3
Huge Navigator TGFB3 [HugePedia]
snp3D : Map Gene to Disease7043
BioCentury BCIQTGFB3
ClinGenTGFB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7043
Chemical/Pharm GKB GenePA36483
Clinical trialTGFB3
Miscellaneous
canSAR (ICR)TGFB3 (select the gene name)
Probes
Litterature
PubMed179 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTGFB3
EVEXTGFB3
GoPubMedTGFB3
iHOPTGFB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat May 28 11:24:15 CEST 2016

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