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 TGFB2 Gene

Aliases for TGFB2 Gene

  • Transforming Growth Factor Beta 2 2 3 5
  • Glioblastoma-Derived T-Cell Suppressor Factor 3 4
  • Transforming Growth Factor Beta-2 Proprotein 3 4
  • Prepro-Transforming Growth Factor Beta-2 2 3
  • Cetermin 3 4
  • G-TSF 3 4
  • Transforming Growth Factor, Beta 2 2
  • BSC-1 Cell Growth Inhibitor 3
  • TGF-Beta2 3
  • Polyergin 3
  • LDS4 3

External Ids for TGFB2 Gene

Previous GeneCards Identifiers for TGFB2 Gene

  • GC01P217194
  • GC01P214364
  • GC01P215122
  • GC01P215576
  • GC01P214908
  • GC01P216586
  • GC01P218519
  • GC01P189187

Summaries for TGFB2 Gene

Entrez Gene Summary for TGFB2 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. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]

GeneCards Summary for TGFB2 Gene

TGFB2 (Transforming Growth Factor Beta 2) is a Protein Coding gene. Diseases associated with TGFB2 include Loeys-Dietz Syndrome 4 and Holt-Oram Syndrome. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding. An important paralog of this gene is TGFB3.

UniProtKB/Swiss-Prot Summary for TGFB2 Gene

  • Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
  • Latency-associated peptide: Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 (By similarity).
  • Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development (PubMed:22772371, PubMed:22772368). 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-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 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-2 and maintain it in a latent state during storage in extracellular milieus (By similarity). Once activated following release of LAP, TGF-beta-2 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).

Gene Wiki entry for TGFB2 Gene

Additional gene information for TGFB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFB2 Gene

Genomics for TGFB2 Gene

GeneHancer (GH) Regulatory Elements for TGFB2 Gene

Promoters and enhancers for TGFB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFB2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • GR-beta
  • p53

Genomic Locations for TGFB2 Gene

Genomic Locations for TGFB2 Gene
chr1:218,345,334-218,444,619
(GRCh38/hg38)
Size:
99,286 bases
Orientation:
Plus strand
chr1:218,518,676-218,617,961
(GRCh37/hg19)
Size:
99,286 bases
Orientation:
Plus strand

Genomic View for TGFB2 Gene

Genes around TGFB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFB2 Gene

Proteins for TGFB2 Gene

  • Protein details for TGFB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61812-TGFB2_HUMAN
    Recommended name:
    Transforming growth factor beta-2 proprotein
    Protein Accession:
    P61812
    Secondary Accessions:
    • B4DKC5
    • P08112
    • Q15579
    • Q15581
    • Q4VAV9

    Protein attributes for TGFB2 Gene

    Size:
    414 amino acids
    Molecular mass:
    47748 Da
    Quaternary structure:
    • Interacts with the serine proteases, HTRA1 and HTRA3 (By similarity). Interacts with ASPN (PubMed:17827158). Interacts with MFAP5 (By similarity). Latency-associated peptide: Interacts with Transforming growth factor beta-2 (TGF-beta-2) chain; interaction is non-covalent and maintains (TGF-beta-2) in a latent state (By similarity). Latency-associated peptide: Interacts with LRRC32/GARP; leading to regulate activation of TGF-beta-2 (PubMed:19651619). Latency-associated peptide: Interacts with NREP; the interaction results in a decrease in TGFB2 autoinduction (By similarity). Transforming growth factor beta-2: Homodimer; disulfide-linked (PubMed:1631557, PubMed:1641027). Transforming growth factor beta-2: Interacts with TGF-beta receptors (TGFBR1 and TGFBR2), leading to signal transduction (By similarity).

    Three dimensional structures from OCA and Proteopedia for TGFB2 Gene

    Alternative splice isoforms for TGFB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFB2 Gene

Post-translational modifications for TGFB2 Gene

  • Transforming growth factor beta-2 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-2 (TGF-beta-2) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-2 inactive.
  • Glycosylation at Asn72, Asn140, and Asn241
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TGFB2_HUMAN (1836)

Other Protein References for TGFB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for TGFB2

Protein Products

  • Novus Biologicals lysates for TGFB2

No data available for DME Specific Peptides for TGFB2 Gene

Domains & Families for TGFB2 Gene

Gene Families for TGFB2 Gene

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

Suggested Antigen Peptide Sequences for TGFB2 Gene

GenScript: Design optimal peptide antigens:
  • Polyergin (TGFB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61812

UniProtKB/Swiss-Prot:

TGFB2_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with TGFB2: view

Function for TGFB2 Gene

Molecular function for TGFB2 Gene

UniProtKB/Swiss-Prot Function:
Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
UniProtKB/Swiss-Prot Function:
Latency-associated peptide: Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 (By similarity).
UniProtKB/Swiss-Prot Function:
Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development (PubMed:22772371, PubMed:22772368). 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-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 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-2 and maintain it in a latent state during storage in extracellular milieus (By similarity). Once activated following release of LAP, TGF-beta-2 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).
GENATLAS Biochemistry:
transforming growth factor,beta 2,152.6kDa,homodimerizing,expressed by fibroblast,platelet,monocyte,chondrocyte,osteoblasts,including the latency associated peptide (LAP),inhibitor of epithelial cell growth and inductor of extracellular matrix formation

Phenotypes From GWAS Catalog for TGFB2 Gene

Gene Ontology (GO) - Molecular Function for TGFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IDA 16227582
GO:0005102 signaling receptor binding IMP 16227582
GO:0005114 type II transforming growth factor beta receptor binding IPI,IBA 1333888
GO:0005125 cytokine activity TAS,IBA 9611771
GO:0005160 transforming growth factor beta receptor binding IDA 10092230
genes like me logo Genes that share ontologies with TGFB2: view
genes like me logo Genes that share phenotypes with TGFB2: view

Human Phenotype Ontology for TGFB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFB2 Gene

MGI Knock Outs for TGFB2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for TGFB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TGFB2 Gene

Localization for TGFB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFB2 Gene

Latency-associated peptide: Secreted, extracellular space, extracellular matrix.
Transforming growth factor beta-2: 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 TGFB2 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TGFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 2119582
GO:0005615 extracellular space IDA 24263861
GO:0030424 axon ISS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0043025 neuronal cell body ISS --
genes like me logo Genes that share ontologies with TGFB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGFB2 Gene

Pathways & Interactions for TGFB2 Gene

PathCards logo

SuperPathways for TGFB2 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 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
genes like me logo Genes that share pathways with TGFB2: view

Pathways by source for TGFB2 Gene

2 GeneGo (Thomson Reuters) pathways for TGFB2 Gene
68 Qiagen pathways for TGFB2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
2 Cell Signaling Technology pathways for TGFB2 Gene

SIGNOR curated interactions for TGFB2 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TGFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IDA 15896309
GO:0001501 skeletal system development ISS --
GO:0001525 angiogenesis TAS 9611771
GO:0001654 eye development IDA 15944186
GO:0001666 response to hypoxia IMP 12411310
genes like me logo Genes that share ontologies with TGFB2: view

Drugs & Compounds for TGFB2 Gene

(45) Drugs for TGFB2 Gene - From: ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lerdelimumab Investigational Pharma 0
ITD 1 Pharma The first selective TGFβ inhibitor 0
Belagenpumatucel-L Pharma Vaccine Vaccines 0
Trabedersen Pharma 3

(33) Additional Compounds for TGFB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TGFB2 Gene

Compound Action Cas Number
ITD 1 The first selective TGFβ inhibitor 1099644-42-4
genes like me logo Genes that share compounds with TGFB2: view

Transcripts for TGFB2 Gene

mRNA/cDNA for TGFB2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for TGFB2

Alternative Splicing Database (ASD) splice patterns (SP) for TGFB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for TGFB2 Gene

GeneLoc Exon Structure for
TGFB2
ECgene alternative splicing isoforms for
TGFB2

Expression for TGFB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGFB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGFB2 Gene

This gene is overexpressed in Minor Salivary Gland (x4.2).

Protein differential expression in normal tissues from HIPED for TGFB2 Gene

This gene is overexpressed in Amniocyte (32.9), Ovary (11.6), Bone (9.5), and Breast (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TGFB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TGFB2 Gene:

TGFB2

SOURCE GeneReport for Unigene cluster for TGFB2 Gene:

Hs.133379

Evidence on tissue expression from TISSUES for TGFB2 Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Eye(2.9)
  • Blood(2.7)
  • Heart(2.7)
  • Kidney(2.7)
  • Muscle(2.7)
  • Skin(2.4)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFB2 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
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGFB2: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TGFB2 Gene

Orthologs for TGFB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGFB2 33 32
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBETA2 33
  • 99 (a)
OneToOne
TGFB2 32
  • 94.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFB2 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGFB2 33 32
  • 93.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfb2 17 33 32
  • 89.21 (n)
rat
(Rattus norvegicus)
Mammalia Tgfb2 32
  • 89.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TGFB2 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFB2 33 32
  • 85.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFB2 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfb2 32
  • 76.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia tgfb2-A 32
zebrafish
(Danio rerio)
Actinopterygii tgfb2 33 32 32
  • 71.61 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta daw 33
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
OneToMany
Species where no ortholog for TGFB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGFB2 Gene

ENSEMBL:
Gene Tree for TGFB2 (if available)
TreeFam:
Gene Tree for TGFB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGFB2: view image

Paralogs for TGFB2 Gene

(2) SIMAP similar genes for TGFB2 Gene using alignment to 1 proteins:

  • TGFB2_HUMAN
genes like me logo Genes that share paralogs with TGFB2: view

Variants for TGFB2 Gene

Sequence variations from dbSNP and Humsavar for TGFB2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1027195424 uncertain-significance, Holt-Oram syndrome 218,346,910(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1046017 benign, Loeys-Dietz syndrome 218,443,793(+) C/G 3_prime_UTR_variant, non_coding_transcript_variant
rs10482718 benign, Loeys-Dietz syndrome 218,345,400(+) A/G 5_prime_UTR_variant, non_coding_transcript_variant
rs10482719 benign, Loeys-Dietz syndrome 218,346,587(+) AAACAA/AAACAAACAA 5_prime_UTR_variant, non_coding_transcript_variant
rs10482721 benign, likely-benign, uncertain-significance, not specified, Holt-Oram syndrome, Loeys-Dietz syndrome, Hirschsprung disease 1, not provided, Cardiovascular phenotype, - 218,346,973(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TGFB2 Gene

Variant ID Type Subtype PubMed ID
esv2723040 CNV deletion 23290073
esv3578440 CNV loss 25503493
nsv832603 CNV gain 17160897

Variation tolerance for TGFB2 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGFB2 Gene

Human Gene Mutation Database (HGMD)
TGFB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFB2 Gene

Disorders for TGFB2 Gene

MalaCards: The human disease database

(62) MalaCards diseases for TGFB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 4
  • lds4
holt-oram syndrome
  • hos
loeys-dietz syndrome
  • furlong syndrome
familial thoracic aortic aneurysm and dissection
  • annuloaortic ectasia
breast cyst
  • cyst of the breast
- elite association - COSMIC cancer census association via MalaCards
Search TGFB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGFB2_HUMAN
  • Note=A chromosomal aberration involving TGFB2 is found in a family with Peters anomaly. Translocation t(1;7)(q41;p21) with HDAC9. {ECO:0000269 PubMed:12706107}.
  • Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae. {ECO:0000269 PubMed:22772368, ECO:0000269 PubMed:22772371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in TGFB2 may be a cause of non-syndromic aortic disease (NSAD). NSAD is a frequently asymptomatic but potentially lethal disease characterized by thoracic aortic aneurysms and dissections without additional syndromic features. {ECO:0000269 PubMed:25046559}.

Additional Disease Information for TGFB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TGFB2: view

No data available for Genatlas for TGFB2 Gene

Publications for TGFB2 Gene

  1. Sclera-related gene polymorphisms in high myopia. (PMID: 19710942) Lin HJ … Tsai FJ (Molecular vision 2009) 3 23 43 56
  2. Transforming growth factor-12 polymorphism and systemic lupus erythematosus. (PMID: 12064833) Alansari A … Ollier W (The Journal of rheumatology 2002) 3 23 43 56
  3. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. (PMID: 25046559) Gago-Díaz M … Brion M (Clinica chimica acta; international journal of clinical chemistry 2014) 3 4 56
  4. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. (PMID: 22772368) Lindsay ME … Loeys BL (Nature genetics 2012) 3 4 56
  5. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. (PMID: 22772371) Boileau C … Milewicz DM (Nature genetics 2012) 3 4 56

Products for TGFB2 Gene

  • Addgene plasmids for TGFB2