Gene Gene information from NCBI Gene database.
Entrez ID 7042
Gene name Transforming growth factor beta 2
Gene symbol TGFB2
Synonyms (NCBI Gene)
G-TSFLDS4TGF-beta2
Chromosome 1
Chromosome location 1q41
Summary 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
SNPs SNP information provided by dbSNP.
31
SNP ID Visualize variation Clinical significance Consequence
rs10482810 G>C Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign Non coding transcript variant, missense variant, coding sequence variant
rs11466408 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
rs387907278 C>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs398122884 ACAAT>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs398122885 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT002285 hsa-miR-141-3p ImmunoblotLuciferase reporter assayqRT-PCR 18483486
MIRT006058 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006058 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006058 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT017363 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
ATF1 Activation 11776974
ATF2 Repression 1400310
USF1 Activation 11776974
USF2 Activation 11776974
USF2 Unknown 8943301
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
204
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IDA 15896309
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development ISS
GO:0001502 Process Cartilage condensation IEA
GO:0001540 Function Amyloid-beta binding IDA 16227582
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190220 11768 ENSG00000092969
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61812
Protein name Transforming growth factor beta-2 proprotein (Cetermin) (Glioblastoma-derived T-cell suppressor factor) (G-TSF) [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-2 (TGF-beta-2)]
Protein 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. {ECO:000
PDB 1TFG , 2TGI , 4KXZ , 5TX4 , 5TY4 , 6I9J , 6XM2 , 7RCO , 8DC0 , 8FXS , 8FXV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 20 284 TGF-beta propeptide Family
PF00019 TGF_beta 316 413 Transforming growth factor beta like domain Domain
Sequence
Sequence length 414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Cytokine-cytokine receptor interaction
FoxO signaling pathway
Cell cycle
Cellular senescence
TGF-beta signaling pathway
Osteoclast differentiation
Hippo signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Leishmaniasis
Chagas disease
Malaria
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis B
Human T-cell leukemia virus 1 infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Chronic myeloid leukemia
Hepatocellular carcinoma
Gastric cancer
Inflammatory bowel disease
Rheumatoid arthritis
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Diabetic cardiomyopathy
  Platelet degranulation
Molecules associated with elastic fibres
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
832
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm, familial thoracic, TGFB2 related Likely pathogenic; Pathogenic rs869312903 RCV001824688
Atrial septal defect 1 Pathogenic rs2102630084 RCV001731121
Ehlers-Danlos syndrome Pathogenic rs2102630133 RCV002278074
Familial aortopathy Likely pathogenic; Pathogenic rs863223792, rs1660010402 RCV001174570
RCV001174870
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm Conflicting classifications of pathogenicity rs149533093 RCV000583868
Cardiovascular phenotype Benign; Likely benign; Uncertain significance rs141225367, rs992485773 RCV000247661
RCV005628735
Connective tissue disorder Benign; Likely benign rs149215818, rs138514914, rs1558248483 RCV000660310
RCV000680609
RCV000680610
Hirschsprung disease, susceptibility to, 1 Benign; Likely benign rs10482721 RCV000508622
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 24927181
Acro Osteolysis Associate 21419220
Adenocarcinoma Associate 25163519
Adenoma Associate 26313302
Adrenal Hyperplasia Congenital Stimulate 24380766
Androgen Insensitivity Syndrome Stimulate 25313366
Anemia Diamond Blackfan Associate 26258650
Aneurysm Associate 25163805, 34185228
Aortic Aneurysm Associate 23099432, 24193348, 40139558, 40243722
Aortic Aneurysm Familial Thoracic 1 Associate 22772371