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Aliases for TGFB2 Gene

Aliases for TGFB2 Gene

  • Transforming Growth Factor Beta 2 2 3 5
  • Glioblastoma-Derived T-Cell Suppressor Factor 3 4
  • Prepro-Transforming Growth Factor Beta-2 2 3
  • BSC-1 Cell Growth Inhibitor 3 4
  • Polyergin 3 4
  • Cetermin 3 4
  • G-TSF 3 4
  • Transforming Growth Factor, Beta 2 2
  • Transforming Growth Factor Beta-2 3
  • TGF-Beta-2 4
  • TGF-Beta2 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 Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and receptor binding. An important paralog of this gene is TGFB3.

UniProtKB/Swiss-Prot for TGFB2 Gene

  • TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.

Gene Wiki entry for TGFB2 Gene

Additional gene information for TGFB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFB2 Gene

Genomics for TGFB2 Gene

GeneHancer (GH) Regulatory Elements for TGFB2 Gene

Promoters and enhancers for TGFB2 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
GH01I218344 Promoter/Enhancer 2.9 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +4.1 4127 9.9 PKNOX1 CLOCK SIN3A FEZF1 ZNF2 SP3 REST ZNF592 SMARCA4 ZSCAN16 TGFB2 RRP15 TGFB2-AS1 GC01M218380
GH01I218472 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.9 +132.9 132873 10.5 PKNOX1 CLOCK FOXA2 NFIB NEUROD1 SIN3A BMI1 ZBTB40 RFX5 ZEB1 TGFB2 C1orf143 TGFB2-AS1 RRP15 GC01P218475 GC01P218504
GH01I218487 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 24.9 +143.5 143525 3.6 PKNOX1 NFIB JUN ZNF384 YBX1 BMI1 CTBP1 GATA3 FOSL2 SMARCA5 TGFB2 C1orf143 TGFB2-AS1 GC01P218475 GC01P218504
GH01I218373 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +30.5 30519 4.6 FOXA2 SIN3A FEZF1 BRCA1 GLIS2 FOS RUNX3 KLF13 SP3 JUNB RRP15 TGFB2 TGFB2-AS1 C1orf143 GC01M218380
GH01I218379 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 +35.6 35646 2.8 CLOCK FOXA2 NFIB NEUROD1 SIN3A RAD21 ZBTB40 ETS1 RFX5 FOS GC01M218380 TGFB2-AS1 TGFB2 RRP15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGFB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFB2 gene promoter:

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)

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
    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:
    • Homodimer; disulfide-linked (By similarity). Heterodimers with TGFB1 and with TGFB3 have been found in bone (By similarity). Interacts with the serine proteases, HTRA1 and HTRA3 (By similarity). Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB2 autoinduction (By similarity). Interacts with ASPN. Interacts with MFAP5 (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

  • The precursor is cleaved into mature TGF-beta-2 and LAP, which remains non-covalently linked to mature TGF-beta-2 rendering it inactive.
  • Glycosylation at isoforms=272, isoforms=2140, and isoforms=2241

Other Protein References for TGFB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TGFB2 (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:

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

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
UniProtKB/Swiss-Prot Function:
TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.

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 receptor binding IMP 16227582
GO:0005114 type II transforming growth factor beta receptor binding IPI 1333888
GO:0005125 cytokine activity TAS 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

Clone Products

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

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
cytosol 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:0031012 extracellular matrix IDA 18049952
GO:0031093 platelet alpha granule lumen TAS --
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

genes like me logo Genes that share pathways with TGFB2: view

SIGNOR curated interactions for TGFB2 Gene

Activates:
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

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

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

(34) 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

Drug Products

Transcripts for TGFB2 Gene

Unigene Clusters for TGFB2 Gene

Transforming growth factor, beta 2:
Representative Sequences:

Clone Products

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, PaxDb, 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
Organs:
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 34 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBETA2 34
  • 99 (a)
OneToOne
TGFB2 33
  • 94.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFB2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGFB2 34 33
  • 93.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfb2 34 16 33
  • 89.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfb2 33
  • 89.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TGFB2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFB2 34 33
  • 85.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFB2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfb2 33
  • 76.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia tgfb2-A 33
zebrafish
(Danio rerio)
Actinopterygii tgfb2 34 33
  • 71.61 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta daw 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for TGFB2 Gene

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

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
rs1007982952 uncertain-significance, Loeys-Dietz syndrome 218,346,082(+) G/A 5_prime_UTR_variant
rs1027195424 uncertain-significance, Holt-Oram syndrome 218,346,910(+) T/C coding_sequence_variant, missense_variant
rs1046017 benign, Loeys-Dietz syndrome 218,443,793(+) C/G 3_prime_UTR_variant
rs10482718 benign, Loeys-Dietz syndrome 218,345,400(+) A/G 5_prime_UTR_variant
rs10482719 benign, Loeys-Dietz syndrome 218,346,587(+) AAACAA/AAACAAACAA 5_prime_UTR_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

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

Disorders for TGFB2 Gene

MalaCards: The human disease database

(49) MalaCards diseases for TGFB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 4
  • lds4
holt-oram syndrome
  • hos
loeys-dietz syndrome
  • furlong syndrome
breast cyst
  • cyst of the breast
macular holes
  • macular hole
- 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
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}.
  • 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 22 44 58
  2. Transforming growth factor-12 polymorphism and systemic lupus erythematosus. (PMID: 12064833) Alansari A … Ollier W (The Journal of rheumatology 2002) 3 22 44 58
  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 58
  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 58
  5. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 44 58

Products for TGFB2 Gene

Sources for TGFB2 Gene

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