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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, Familial, 1. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TGFB3 Gene

Promoters and enhancers for TGFB3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J075979 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.2 +1.6 1603 4.1 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B TGFB3 IFT43 TGFB3-AS1
GH14J075983 Enhancer 0.3 dbSUPER 650.7 -1.0 -1004 0.9 NONO TGFB3 RPL22P2 NEK9 LOC100506576 IFT43
GH14J075904 Enhancer 0.8 Ensembl ENCODE 16.6 +77.2 77213 1.7 CTCF NFIB FEZF1 OSR2 ZNF664 ZNF707 NFIC PRDM6 ZNF316 SKIL TGFB3 LOC102724153 IFT43 TGFB3-AS1 TTLL5
GH14J075906 Enhancer 0.6 ENCODE 11.7 +76.1 76118 0.2 CTCF ZNF654 RXRA TRIM22 REST PPARG RAD21 SMC3 ZNF143 RXRB TGFB3 IFT43 TGFB3-AS1 TTLL5
GH14J075977 Enhancer 0.8 ENCODE dbSUPER 6 +4.9 4900 0.4 ESRRA RXRA MAX CEBPG EP300 RFX5 YY1 SP1 JUND GATA3 IFT43 TGFB3 TGFB3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFB3 gene promoter:
  • Nkx2-5
  • GR-beta
  • GR-alpha
  • GR
  • GATA-2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • FOXO1
  • FOXO1a

Genomic Locations for TGFB3 Gene

Genomic Locations for TGFB3 Gene
24,895 bases
Minus strand
24,893 bases
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:
    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

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=2142, isoforms=2135, and isoforms=274
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFB3 Gene

No data available for DME Specific Peptides for TGFB3 Gene

Domains & Families for TGFB3 Gene

Gene Families for TGFB3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted secreted proteins

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

UniProtKB/Swiss-Prot Function:
Involved in embryogenesis and cell differentiation.
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

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:0005160 transforming growth factor beta receptor binding IBA,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

miRNA for TGFB3 Gene

miRTarBase miRNAs that target TGFB3

Clone Products

  • Addgene plasmids for TGFB3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

Transcripts for TGFB3 Gene

mRNA/cDNA for TGFB3 Gene

Unigene Clusters for TGFB3 Gene

Transforming growth factor, beta 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TGFB3 Gene:


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(2.2)
  • Bone(2.1)
  • Intestine(2)

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

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

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
(Pan troglodytes)
Mammalia TGFB3 34 33
  • 99.84 (n)
(Monodelphis domestica)
Mammalia TGFB3 34
  • 94 (a)
(Canis familiaris)
Mammalia TGFB3 33
  • 93.37 (n)
  • 88 (a)
(Rattus norvegicus)
Mammalia Tgfb3 33
  • 91.67 (n)
(Mus musculus)
Mammalia Tgfb3 16 34 33
  • 91.5 (n)
(Bos Taurus)
Mammalia TGFB3 34 33
  • 89.35 (n)
(Ornithorhynchus anatinus)
Mammalia TGFB3 34
  • 86 (a)
(Gallus gallus)
Aves TGFB3 34 33
  • 82.28 (n)
(Anolis carolinensis)
Reptilia TGFB3 34
  • 76 (a)
(Danio rerio)
Actinopterygii tgfb3 34 33 33
  • 71.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta daw 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
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

Gene Tree for TGFB3 (if available)
Gene Tree for TGFB3 (if available)
Evolutionary constrained regions (ECRs) for TGFB3: view image

Paralogs for TGFB3 Gene

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

  • A5YM40_HUMAN
  • Q6TV14_HUMAN
  • Q6TV15_HUMAN
  • Q6TV16_HUMAN
  • Q8WV88_HUMAN
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 Variation AA Info Type
rs10129478 likely-benign, Cardiomyopathy, ARVC 75,958,491(-) A/G 3_prime_UTR_variant
rs1060502826 pathogenic, Loeys-Dietz syndrome 4 75,963,358(-) CCCCCC/CCCC coding_sequence_variant, frameshift
rs1060502827 pathogenic, likely-pathogenic, Loeys-Dietz syndrome 4, not provided 75,960,969(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs1060502828 uncertain-significance, Loeys-Dietz syndrome 4 75,959,296(-) C/T coding_sequence_variant, missense_variant
rs1060504730 likely-benign, Loeys-Dietz syndrome 4 75,980,549(-) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for TGFB3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TGFB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
loeys-dietz syndrome 5
  • lds5
arrhythmogenic right ventricular dysplasia, familial, 1
  • arvd1
loeys-dietz syndrome 4
  • lds4
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic 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


  • 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.

Additional Disease Information for TGFB3

Genetic Association Database
Human Genome Epidemiology 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 (Cardiovascular research 2005) 2 3 4 22 58
  2. Maternal and fetal variants in the TGF-beta3 gene and risk of pregnancy-induced hypertension in a predominantly Latino population. (PMID: 19628198) Wilson ML … Ingles SA (American journal of obstetrics and gynecology 2009) 3 22 44 58
  3. [No association between 3 polymorphisms of transforming growth factor beta3 gene and essential hypertension in Chinese]. (PMID: 15924806) Hu BC … Zhu DL (Zhonghua xin xue guan bing za zhi 2005) 3 22 44 58
  4. Genetic susceptibility to keloid disease: mutation screening of the TGFbeta3 gene. (PMID: 16043141) Bayat A … Ferguson MW (British journal of plastic surgery 2005) 3 22 44 58
  5. Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients. (PMID: 14659070) Kim MH … Nahm DS (Journal of biochemistry and molecular biology 2003) 3 22 44 58

Products for TGFB3 Gene

  • Addgene plasmids for TGFB3

Sources for TGFB3 Gene

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