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Aliases for TGFB3 Gene

Aliases for TGFB3 Gene

  • Transforming Growth Factor, Beta 3 2 3
  • Prepro-Transforming Growth Factor Beta-3 2 3
  • TGF-Beta-3 3 4
  • Arrhythmogenic Right Ventricular Dysplasia 1 2
  • TGF-Beta3 3
  • ARVD1 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 member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009]

GeneCards Summary for TGFB3 Gene

TGFB3 (Transforming Growth Factor, Beta 3) is a Protein Coding gene. Diseases associated with TGFB3 include uhl anomaly and tgfbr3-related loeys-dietz syndrome. Among its related pathways are MAPK signaling pathway and Pathways in cancer. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is INHBB.

UniProtKB/Swiss-Prot for TGFB3 Gene

  • Involved in embryogenesis and cell differentiation

Gene Wiki entry for TGFB3 Gene

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

Genomics for TGFB3 Gene

Regulatory Elements for TGFB3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TGFB3 Gene

75,958,097 bp from pter
75,982,991 bp from pter
24,895 bases
Minus strand

Genomic View for TGFB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for TGFB3 Gene

Proteins for TGFB3 Gene

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

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

    Protein attributes for TGFB3 Gene

    412 amino acids
    Molecular mass:
    47328 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with ASPN.
    • 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


neXtProt entry for TGFB3 Gene

Proteomics data for TGFB3 Gene at MOPED

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 Asn 74, Asn 135, and Asn 142
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

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



  • Belongs to the TGF-beta 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 1333888
GO:0005125 cytokine activity IBA --
GO:0005515 protein binding IPI 1326540
GO:0008083 growth factor activity IEA --
GO:0034713 type I transforming growth factor beta receptor binding IDA 18243111
genes like me logo Genes that share ontologies with TGFB3: view
genes like me logo Genes that share phenotypes with TGFB3: view

Animal Models for TGFB3 Gene

MGI Knock Outs for TGFB3:

Animal Model Products

miRNA for TGFB3 Gene

miRTarBase miRNAs that target TGFB3

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFB3

In Situ Assay Products

Flow Cytometry Products

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


Subcellular locations from

Jensen Localization Image for TGFB3 Gene COMPARTMENTS Subcellular localization image for TGFB3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
cytosol 2
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for TGFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
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

PCR Array Products

SIGNOR curated interactions for TGFB3 Gene

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

(16) Drugs for TGFB3 Gene - From: NovoSeek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1806
Dopamine Approved Pharma Full agonist, Agonist 2814
Estradiol Approved, Investigational Pharma Sex hormone 1057
Ethanol Approved Pharma 1708
Nitric Oxide Approved Pharma 540

(19) Additional Compounds for TGFB3 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TGFB3: view

Transcripts for TGFB3 Gene

Unigene Clusters for TGFB3 Gene

Transforming growth factor, beta 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFB3

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TGFB3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TGFB3 Gene

mRNA expression in normal human tissues for TGFB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for TGFB3 Gene Hs.592317

genes like me logo Genes that share expression patterns with TGFB3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia TGFB3 35
  • 89.35 (n)
  • 89.27 (a)
TGFB3 36
  • 81 (a)
(Canis familiaris)
Mammalia TGFB3 35
  • 93.37 (n)
  • 98.06 (a)
  • 88 (a)
(Mus musculus)
Mammalia Tgfb3 35
  • 91.5 (n)
  • 97.57 (a)
Tgfb3 16
Tgfb3 36
  • 98 (a)
(Pan troglodytes)
Mammalia TGFB3 35
  • 99.84 (n)
  • 100 (a)
TGFB3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tgfb3 35
  • 91.67 (n)
  • 97.82 (a)
(Monodelphis domestica)
Mammalia TGFB3 36
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia TGFB3 36
  • 86 (a)
(Gallus gallus)
Aves TGFB3 35
  • 82.28 (n)
  • 88.35 (a)
TGFB3 36
  • 91 (a)
(Anolis carolinensis)
Reptilia TGFB3 36
  • 76 (a)
(Danio rerio)
Actinopterygii tgfb3 35
  • 71.64 (n)
  • 74.08 (a)
tgfb3 36
  • 74 (a)
fruit fly
(Drosophila melanogaster)
Insecta daw 36
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
Species with no ortholog for TGFB3:
  • 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

Gene Tree for TGFB3 (if available)
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 MAF
rs909207 -- 75,983,239(+) TTTTT(G/T)TTTTT upstream-variant-2KB
rs1042582 -- 75,981,125(-) GACAA(C/G)AATCC utr-variant-5-prime
rs1042587 -- 75,958,654(-) GTCTG(G/T)GATTA utr-variant-3-prime
rs2268622 -- 75,970,095(+) GCTGC(C/T)GTTGG intron-variant
rs2268623 -- 75,972,671(+) AAGAG(C/G)GGCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv902101 CNV Loss 21882294
nsv1360 CNV Loss 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

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

PCR Panel Products

  • Copy Number PCR Panels: for TGFB3

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

Disorders for TGFB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
uhl anomaly
  • parchment right ventricle
tgfbr3-related loeys-dietz syndrome
  • loeys-dietz syndrome 5
arrhythmogenic right ventricular dysplasia/cardiomyopathy 1
  • arvd1
arrhythmogenic right ventricular dysplasia 1
  • uhl anomaly
loeys-dietz syndrome 5
  • rienhoff syndrome
- elite association
Search TGFB3 in MalaCards View complete list of genes associated with diseases


  • 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.
  • Rienhoff syndrome (RNHF) [MIM:615582]: A congenital syndrome characterized by abnormal development of several mesenchymal-derived tissues, including muscle and craniopalatofacial structures, accompanied by low muscle mass, growth retardation, distal arthrogryposis. Additional clinical features include arachnodactyly, pectus excavatum, pes planus, and hyperextensible large joints, as well as hypertelorism and bifid uvula. There is no evidence of vascular disease. {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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 23 67
  2. TGF-beta3 is expressed in taste buds and inhibits proliferation of primary cultured taste epithelial cells. (PMID: 19787410) Nakamura S. … Ookura T. (In Vitro Cell. Dev. Biol. Anim. 2010) 23 67
  3. A dual-functioning adenoviral vector encoding both transforming growth factor-beta3 and shRNA silencing type I collagen: construction and controlled release for chondrogenesis. (PMID: 19822176) Zhang F. … Wang D.A. (J Control Release 2010) 23 67
  4. Expression of vascular endothelial growth factor (VEGF), hypoxia inducible factor 1 alpha (HIF-1alpha), and transforming growth factors beta1 (TGFbeta1) and beta3 (TGFbeta3) in gestational trophoblastic disease. (PMID: 19836147) Bolat F. … Tuncer I. (Pathol. Res. Pract. 2010) 23 67
  5. Morphological differences during in vitro chondrogenesis of bone marrow-, synovium-MSCs, and chondrocytes. (PMID: 20010853) Ichinose S. … Sekiya I. (Lab. Invest. 2010) 23 67

Products for TGFB3 Gene

Sources for TGFB3 Gene

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