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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
  • ARVD1 3 6
  • RNHF 3 6
  • Arrhythmogenic Right Ventricular Dysplasia 1 2
  • Transforming Growth Factor Beta-3 3
  • TGF-Beta3 3
  • ARVD 3

External Ids for TGFB3 Gene

Previous Symbols for TGFB3 Gene

  • ARVD1
  • ARVD

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 arrhythmogenic right ventricular dysplasia 1 and rienhoff syndrome. Among its related pathways are MAPK signaling pathway and Pathways in cancer. GO annotations related to this gene include identical protein binding and growth factor 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

Genomic Location for TGFB3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGFB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFB3 Gene

Regulatory Elements 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

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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn74, Asn135, and Asn142

Other Protein References for TGFB3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TGFB3 Gene

Domains for TGFB3 Gene

Gene Families for TGFB3 Gene

HGNC:

UniProtKB/Swiss-Prot:

TGFB3_HUMAN
Family:
  • Belongs to the TGF-beta family.:
    • P10600
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 10930463
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:

miRNA for TGFB3 Gene

miRTarBase miRNAs that target TGFB3

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

Localization for TGFB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFB3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFB3 Gene COMPARTMENTS Subcellular localization image for TGFB3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
golgi apparatus 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 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 --
GO:0005886 plasma membrane IC 11157754
genes like me logo Genes that share ontologies with TGFB3: view

Pathways for TGFB3 Gene

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

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

Compounds for TGFB3 Gene

(1) Drugbank Compounds for TGFB3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1,4-Diethylene Dioxide
target

(34) Novoseek inferred chemical compound relationships for TGFB3 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 81 50
glycosaminoglycan 50.6 4
4-hydroperoxycyclophosphamide 47.3 1
4-hydroxytamoxifen 39.6 3
ribonucleic acid 32.7 3
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:

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 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 expressions with TGFB3: view

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 36
  • 99.84 (n)
  • 100 (a)
TGFB3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGFB3 36
  • 89.35 (n)
  • 89.27 (a)
TGFB3 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFB3 36
  • 93.37 (n)
  • 98.06 (a)
TGFBETA3 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfb3 36
  • 91.5 (n)
  • 97.57 (a)
Tgfb3 16
Tgfb3 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGFB3 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFB3 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfb3 36
  • 91.67 (n)
  • 97.82 (a)
chicken
(Gallus gallus)
Aves TGFB3 36
  • 82.28 (n)
  • 88.35 (a)
TGFB3 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFB3 37
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tgfb3 36
  • 71.64 (n)
  • 74.08 (a)
tgfb3 37
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta daw 37
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToMany
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

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

Paralogs for TGFB3 Gene

Paralogs for TGFB3 Gene

Selected 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
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
rs2268624 -- 75,973,002(+) AAGAT(C/G)TGGGC intron-variant
rs2268625 -- 75,973,291(+) AAATG(C/T)GCTAC 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

Relevant External Links for TGFB3 Gene

HapMap Linkage Disequilibrium report
TGFB3
Human Gene Mutation Database (HGMD)
TGFB3
Locus Specific Mutation Databases (LSDB)
TGFB3

Disorders for TGFB3 Gene

(2) OMIM Diseases for TGFB3 Gene (190230)

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.
  • 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.

(4) University of Copenhagen DISEASES for TGFB3 Gene

(50) Novoseek inferred disease relationships for TGFB3 Gene

Disease -log(P) Hits PubMed IDs
cleft palate 60.5 10
cleft lip 59.6 9
arrhythmogenic right ventricular dysplasia 48 2
keloid 44.2 5
scar 42.3 10

Relevant External Links for TGFB3

GeneTests
TGFB3
GeneReviews
TGFB3
Genetic Association Database (GAD)
TGFB3
Human Genome Epidemiology (HuGE) Navigator
TGFB3
genes like me logo Genes that share disorders with TGFB3: view

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 23
  2. [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 23 49
  3. Transforming growth factor-beta gene polymorphisms in sarcoidosis patients with and without fibrosis. (PMID: 16778279) Kruit A. … van den Bosch J.M. (Chest 2006) 3 23 49
  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 23 49
  5. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. (PMID: 11754469) Beaty T.H. … McIntosh I. (Genet. Epidemiol. 2002) 3 23 49

Products for TGFB3 Gene

Sources for TGFB3 Gene

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