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 ... See more...

Aliases for TGFB3 Gene

Aliases for TGFB3 Gene

  • Transforming Growth Factor Beta 3 2 3 5
  • Transforming Growth Factor Beta-3 Proprotein 3 4
  • Prepro-Transforming Growth Factor Beta-3 2 3
  • Arrhythmogenic Right Ventricular Dysplasia 1 2
  • Transforming Growth Factor, Beta 3 2
  • TGF-Beta3 3
  • ARVD1 3
  • TGFB3 5
  • ARVD 3
  • LDS5 3
  • RNHF 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 Nanog in Mammalian ESC Pluripotency. 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 Summary for TGFB3 Gene

  • Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.
  • [Latency-associated peptide]: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).
  • Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).

Gene Wiki entry for TGFB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFB3 Gene

Genomics for TGFB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TGFB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J075977 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 259 +0.4 373 9.5 SP1 FEZF1 MNT IKZF1 ZNF217 BRCA1 CTCF ZBTB7B ZEB1 ELF1 IFT43 TGFB3 lnc-TGFB3-4 ESRRB TGFB3-AS1
GH14J075904 Enhancer 0.9 Ensembl ENCODE 16.6 +77.3 77346 2.9 FEZF1 CTCF REST TRIM22 RXRA SMC3 RAD21 SKIL ZNF316 PRDM6 TGFB3 MLH3 LOC102724153 IFT43 piR-54764-189 HSALNG0102540 TTLL5
GH14J075959 Enhancer 0.9 Ensembl ENCODE dbSUPER 12.5 +22.3 22310 5 BCL11A RXRA EBF1 ZNF384 ATF2 ZNF687 MTA2 DPF2 IKZF2 USF1 lnc-ERG28-3 TGFB3 IFT43 FLVCR2 LOC102724153 piR-50308-187
GH14J076099 Enhancer 0.8 Ensembl CraniofacialAtlas 5.2 -118.1 -118118 2.5 ZNF217 CTCF SMC3 CTBP1 RAD21 ATF2 DPF2 ESRRA NFIB CREB1 HSALNG0102552 IFT43 TGFB3 lnc-TGFB3-6 GPATCH2L
GH14J075976 Enhancer 0.5 CraniofacialAtlas dbSUPER 5.1 +6.0 5953 0.4 RAD21 CTCF IFT43 TGFB3 TTLL5 TGFB3-AS1 lnc-TGFB3-4
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGFB3

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

Genomic Locations for TGFB3 Gene

Latest Assembly
chr14:75,958,097-75,983,011
(GRCh38/hg38)
Size:
24,915 bases
Orientation:
Minus strand

Previous Assembly
chr14:76,424,440-76,449,354
(GRCh37/hg19 by Entrez Gene)
Size:
24,915 bases
Orientation:
Minus strand

chr14:76,424,442-76,449,334
(GRCh37/hg19 by Ensembl)
Size:
24,893 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 proprotein
    Protein Accession:
    P10600
    Secondary Accessions:
    • Q8WV88

    Protein attributes for TGFB3 Gene

    Size:
    412 amino acids
    Molecular mass:
    47328 Da
    Quaternary structure:
    • Interacts with ASPN (PubMed:8819159). Latency-associated peptide: Homodimer; disulfide-linked. Latency-associated peptide: Interacts with Transforming growth factor beta-3 (TGF-beta-3) chain; interaction is non-covalent and maintains (TGF-beta-3) in a latent state (By similarity). Latency-associated peptide: Interacts with LRRC32/GARP; leading to regulate activation of TGF-beta-3 and promote epithelial fusion during palate development (By similarity). Latency-associated peptide: Interacts (via cell attachment site) with integrins, leading to release of the active TGF-beta-3 (By similarity). Transforming growth factor beta-3: Homodimer; disulfide-linked (PubMed:8819159). Transforming growth factor beta-3: Interacts with TGF-beta receptors (TGFBR1 and TGFBR2), leading to signal transduction (By similarity).
    SequenceCaution:
    • Sequence=CAA33024.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

  • Transforming growth factor beta-3 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-3 (TGF-beta-3) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-3 inactive.
  • Methylated at Gln-293 by N6AMT1.
  • Glycosylation at Asn74, Asn135, and Asn142
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TGFB3_HUMAN (1837)

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

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

Protein Domains for TGFB3 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
  • Transforming growth factor beta precursor signature
  • Transforming growth factor beta 3 precursor signature
ProtoNet:

Suggested Antigen Peptide Sequences for TGFB3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94128, Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA (A5YM40_HUMAN)
  • Transforming growth factor-beta 3 (Q6LDJ6_HUMAN)
  • Transforming growth factor beta 3 (Q6TV14_HUMAN)
  • Transforming growth factor beta 3 (Q6TV15_HUMAN)
  • Transforming growth factor beta 3 (Q6TV16_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.
UniProtKB/Swiss-Prot Function:
[Latency-associated peptide]: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).
UniProtKB/Swiss-Prot Function:
Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).
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:

Phenotypes From GWAS Catalog for TGFB3 Gene

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 21873635
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:

miRNA for TGFB3 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

[Latency-associated peptide]: Secreted, extracellular space, extracellular matrix.
[Transforming growth factor beta-3]: 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
nucleus 4
cytoskeleton 3
cytosol 3
golgi apparatus 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 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 IEA,IBA 21873635
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

PathCards logo

SuperPathways for TGFB3 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.47
.46
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 ERK Signaling
.61
.61
.58
.51
.49
5 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
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:0007165 signal transduction IEA --
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-Dioxane 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

Transcripts for TGFB3 Gene

mRNA/cDNA for TGFB3 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for TGFB3 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFB3

SOURCE GeneReport for Unigene cluster for TGFB3 Gene:

Hs.592317

Evidence on tissue expression from TISSUES for TGFB3 Gene

  • Muscle(3.1)
  • Heart(3)
  • Nervous system(2.8)
  • Intestine(2.7)
  • Lung(2.6)
  • Skin(2.5)
  • Kidney(2.5)
  • Bone marrow(2.5)
  • Bone(2.4)
  • Blood(2.4)
  • Liver(2.4)
  • Lymph node(2.3)
  • Spleen(2.2)
  • Pancreas(2.1)

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
Regions:
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 for research

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 30 31
  • 99.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TGFB3 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TGFB3 30
  • 93.37 (n)
TGFBETA3 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tgfb3 30
  • 91.67 (n)
Mouse
(Mus musculus)
Mammalia Tgfb3 30 17 31
  • 91.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TGFB3 30 31
  • 89.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TGFB3 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TGFB3 30 31
  • 82.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TGFB3 31
  • 76 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii tgfb3 30 31
  • 71.64 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta daw 31
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for TGFB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TGFB3: view image

Paralogs for TGFB3 Gene

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

  • TGFB3_HUMAN
  • A5YM40_HUMAN
  • Q6LDJ6_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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGFB3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
835026 Uncertain Significance: Loeys-Dietz syndrome 4 75,971,221(-) C/T
NM_003239.5(TGFB3):c.551G>A (p.Arg184His)
MISSENSE
836665 Uncertain Significance: Loeys-Dietz syndrome 4 75,959,302(-) G/A
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)
MISSENSE
837955 Uncertain Significance: Loeys-Dietz syndrome 4 75,980,811(-) G/A
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile)
MISSENSE
840650 Uncertain Significance: Loeys-Dietz syndrome 4 75,960,939(-) T/C
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly)
MISSENSE
849412 Uncertain Significance: Loeys-Dietz syndrome 4 75,980,664(-) C/G
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TGFB3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
TGFB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFB3

SNP Genotyping and Copy Number Assays for research

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

Disorders for TGFB3 Gene

MalaCards: The human disease database

(78) MalaCards diseases for TGFB3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for TGFB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 74
  2. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. (PMID: 23824657) Rienhoff HY … Whitman M (American journal of medical genetics. Part A 2013) 3 4 74
  3. MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. (PMID: 20082468) Zhu J … Li Z (American journal of medical genetics. Part A 2010) 3 23 41
  4. 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 23 41
  5. Association between genetic variation in transforming growth factors beta1 and beta3 and renal dysfunction in non-diabetic Chinese. (PMID: 18293167) Hu BC … Wang JG (Clinical and experimental hypertension (New York, N.Y. : 1993) 2008) 3 23 41

Products for TGFB3 Gene

  • Addgene plasmids for TGFB3

Sources for TGFB3 Gene