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Aliases for TGFB3 Gene

Aliases for TGFB3 Gene

  • Transforming Growth Factor Beta 3 2 3 5
  • Prepro-Transforming Growth Factor Beta-3 2 3
  • Arrhythmogenic Right Ventricular Dysplasia 1 2
  • Transforming Growth Factor, Beta 3 2
  • Transforming Growth Factor Beta-3 3
  • TGF-Beta-3 4
  • TGF-Beta3 3
  • ARVD1 3
  • LDS5 3
  • RNHF 3
  • ARVD 3

External Ids for TGFB3 Gene

Previous HGNC Symbols for TGFB3 Gene

  • ARVD1
  • ARVD

Previous GeneCards Identifiers for TGFB3 Gene

  • GC14M073930
  • GC14M070241
  • GC14M074414
  • GC14M075494
  • GC14M076424
  • GC14M056593

Summaries for TGFB3 Gene

Entrez Gene Summary for TGFB3 Gene

  • This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]

GeneCards Summary for TGFB3 Gene

TGFB3 (Transforming Growth Factor Beta 3) is a Protein Coding gene. Diseases associated with TGFB3 include Loeys-Dietz Syndrome 5 and Arrhythmogenic Right Ventricular Dysplasia 1. Among its related pathways are GPCR Pathway and Toxoplasmosis. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is TGFB2.

UniProtKB/Swiss-Prot for TGFB3 Gene

  • Involved in embryogenesis and cell differentiation.

Gene Wiki entry for TGFB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFB3 Gene

Genomics for TGFB3 Gene

Regulatory Elements for TGFB3 Gene

Enhancers for TGFB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G075904 1 Ensembl ENCODE 16.5 +77.2 77213 1.7 CTCF NFIB FEZF1 ZNF664 ZNF316 ZSCAN5C ZNF600 MAFK OSR2 PRDM6 TGFB3 LOC102724153 IFT43 TGFB3-AS1
GH14G075979 1.3 ENCODE dbSUPER 7.2 +1.6 1604 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 IFT43 TGFB3 TGFB3-AS1
GH14G075906 0.7 ENCODE 11.7 +76.1 76119 0.2 CTCF ZNF654 TRIM22 REST CHD7 PPARG RAD21 SMC3 ZNF143 RXRB TGFB3 IFT43 TGFB3-AS1
GH14G075977 0.9 ENCODE dbSUPER 6 +4.9 4901 0.4 MAX CEBPG EP300 NR2F2 RFX5 GATA3 JUND ATF3 RCOR1 HNF4A IFT43 TGFB3 TGFB3-AS1
GH14G075980 0.8 FANTOM5 dbSUPER 4.1 +4.4 4425 0.1 CTBP1 ZNF687 MNT ZNF600 REST RCOR1 IFT43 TGFB3 ESRRB TGFB3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TGFB3 on UCSC Golden Path with GeneCards custom track

Promoters for TGFB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071002 691 1401 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143

Genomic Location for TGFB3 Gene

Chromosome:
14
Start:
75,958,097 bp from pter
End:
75,982,991 bp from pter
Size:
24,895 bases
Orientation:
Minus strand

Genomic View for TGFB3 Gene

Genes around TGFB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFB3 Gene

Proteins for TGFB3 Gene

  • Protein details for TGFB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10600-TGFB3_HUMAN
    Recommended name:
    Transforming growth factor beta-3
    Protein Accession:
    P10600
    Secondary Accessions:
    • Q8WV88

    Protein attributes for TGFB3 Gene

    Size:
    412 amino acids
    Molecular mass:
    47328 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with ASPN.
    SequenceCaution:
    • Sequence=CAA33024.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TGFB3 Gene

    Alternative splice isoforms for TGFB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFB3 Gene

Post-translational modifications for TGFB3 Gene

  • The precursor is cleaved into mature TGF-beta-3 and LAP, which remains non-covalently linked to mature TGF-beta-3 rendering it inactive.
  • Glycosylation at isoforms=274, Asn135, and Asn142
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TGFB3 (TGFB3)

Assay Products

No data available for DME Specific Peptides for TGFB3 Gene

Domains & Families for TGFB3 Gene

Gene Families for TGFB3 Gene

Graphical View of Domain Structure for InterPro Entry

P10600

UniProtKB/Swiss-Prot:

TGFB3_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with TGFB3: view

Function for TGFB3 Gene

Molecular function for TGFB3 Gene

GENATLAS Biochemistry:
transforming growth factor,beta 3,152.6kDa,homodimerizing,expressed by fibroblast,platelet,monocyte,chondrocyte,osteoblasts,including the latency associated peptide (LAP),involved in the pathogenesis of cleft lip and palate
UniProtKB/Swiss-Prot Function:
Involved in embryogenesis and cell differentiation.

LifeMap Function Summary for TGFB3 Gene

During embryonic development, TGFB3 as signaling molecule is secreted from the following cells
It affects the following cells:
TGFB3 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for TGFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005114 type II transforming growth factor beta receptor binding IPI,IMP 1333888
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IEA --
GO:0005515 protein binding IPI 1326540
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with TGFB3: view
genes like me logo Genes that share phenotypes with TGFB3: view

Human Phenotype Ontology for TGFB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFB3 Gene

MGI Knock Outs for TGFB3:

Animal Model Products

CRISPR Products

miRNA for TGFB3 Gene

miRTarBase miRNAs that target TGFB3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TGFB3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFB3 Gene

Localization for TGFB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFB3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFB3 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 3
nucleus 3
golgi apparatus 3
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TGFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IC 11157754
genes like me logo Genes that share ontologies with TGFB3: view

Pathways & Interactions for TGFB3 Gene

genes like me logo Genes that share pathways with TGFB3: view

SIGNOR curated interactions for TGFB3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TGFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0001666 response to hypoxia IDA 18156205
GO:0001701 in utero embryonic development ISS --
GO:0002576 platelet degranulation TAS --
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 11157754
genes like me logo Genes that share ontologies with TGFB3: view

Drugs & Compounds for TGFB3 Gene

(18) Drugs for TGFB3 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,4-Diethylene Dioxide Experimental Pharma Target 0
ITD 1 Pharma The first selective TGFβ inhibitor 0

(18) Additional Compounds for TGFB3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TGFB3 Gene

Compound Action Cas Number
ITD 1 The first selective TGFβ inhibitor 1099644-42-4
genes like me logo Genes that share compounds with TGFB3: view

Drug Products

Transcripts for TGFB3 Gene

Unigene Clusters for TGFB3 Gene

Transforming growth factor, beta 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TGFB3

Alternative Splicing Database (ASD) splice patterns (SP) for TGFB3 Gene

No ASD Table

Relevant External Links for TGFB3 Gene

GeneLoc Exon Structure for
TGFB3
ECgene alternative splicing isoforms for
TGFB3

Expression for TGFB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGFB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TGFB3 Gene:

TGFB3

SOURCE GeneReport for Unigene cluster for TGFB3 Gene:

Hs.592317

Evidence on tissue expression from TISSUES for TGFB3 Gene

  • Muscle(2.9)
  • Heart(2.6)
  • Lung(2.5)
  • Skin(2.3)
  • Nervous system(2.3)
  • Bone marrow(2.1)
  • Bone(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGFB3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TGFB3 Gene

Orthologs for TGFB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGFB3 34 35
  • 99.84 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFB3 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFB3 34
  • 93.37 (n)
TGFBETA3 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfb3 34
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia Tgfb3 34 16 35
  • 91.5 (n)
cow
(Bos Taurus)
Mammalia TGFB3 34 35
  • 89.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TGFB3 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFB3 34 35
  • 82.28 (n)
lizard
(Anolis carolinensis)
Reptilia TGFB3 35
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tgfb3 34 35
  • 71.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta daw 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for TGFB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGFB3 Gene

ENSEMBL:
Gene Tree for TGFB3 (if available)
TreeFam:
Gene Tree for TGFB3 (if available)

Paralogs for TGFB3 Gene

Paralogs for TGFB3 Gene

(8) SIMAP similar genes for TGFB3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TGFB3: view

Variants for TGFB3 Gene

Sequence variations from dbSNP and Humsavar for TGFB3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs398122984 Pathogenic, Loeys-Dietz syndrome 5 (LDS5) [MIM:615582] 75,959,200(-) GTCTT(A/G)TAAAT reference, missense
rs387906514 Pathogenic 75,958,692(-) GGTTA(C/T)GAAGA utr-variant-3-prime
rs587777617 Pathogenic 75,963,343(+) AAGCC(C/T)GCTTC reference, missense
rs770828281 Pathogenic 75,980,923(+) GGGGA(C/T)GGCAA utr-variant-5-prime
rs796051885 Pathogenic 75,963,344(-) AGAAG(C/T)GGGCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TGFB3 Gene

Variant ID Type Subtype PubMed ID
nsv1360 CNV deletion 18451855

Variation tolerance for TGFB3 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFB3 Gene

Human Gene Mutation Database (HGMD)
TGFB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFB3 Gene

Disorders for TGFB3 Gene

MalaCards: The human disease database

(46) MalaCards diseases for TGFB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 5
  • rienhoff syndrome
arrhythmogenic right ventricular dysplasia 1
  • arrhythmogenic right ventricular dysplasia, familial, 1
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
- elite association - COSMIC cancer census association via MalaCards
Search TGFB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGFB3_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) [MIM:107970]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:15639475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Loeys-Dietz syndrome 5 (LDS5) [MIM:615582]: A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. {ECO:0000269 PubMed:23824657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TGFB3

Genetic Association Database (GAD)
TGFB3
Human Genome Epidemiology (HuGE) Navigator
TGFB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGFB3
genes like me logo Genes that share disorders with TGFB3: view

No data available for Genatlas for TGFB3 Gene

Publications for TGFB3 Gene

  1. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. (PMID: 15639475) Beffagna G. … Rampazzo A. (Cardiovasc. Res. 2005) 2 3 4 22 64
  2. Maternal and fetal variants in the TGF-beta3 gene and risk of pregnancy-induced hypertension in a predominantly Latino population. (PMID: 19628198) Wilson M.L. … Ingles S.A. (Am. J. Obstet. Gynecol. 2009) 3 22 46 64
  3. [No association between 3 polymorphisms of transforming growth factor beta3 gene and essential hypertension in Chinese]. (PMID: 15924806) Hu B.C. … Zhu D.L. (Zhonghua Xin Xue Guan Bing Za Zhi 2005) 3 22 46 64
  4. Genetic susceptibility to keloid disease: mutation screening of the TGFbeta3 gene. (PMID: 16043141) Bayat A. … Ferguson M.W. (Br J Plast Surg 2005) 3 22 46 64
  5. Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients. (PMID: 14659070) Kim M.H. … Nahm D.S. (J. Biochem. Mol. Biol. 2003) 3 22 46 64

Products for TGFB3 Gene

  • Addgene plasmids for TGFB3

Sources for TGFB3 Gene

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