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TGFB2 transforming growth factor beta 2 [ Homo sapiens (human) ]

Gene ID: 7042, updated on 9-May-2021

Summary

Official Symbol
TGFB2provided by HGNC
Official Full Name
transforming growth factor beta 2provided by HGNC
Primary source
HGNC:HGNC:11768
See related
Ensembl:ENSG00000092969 MIM:190220
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LDS4; G-TSF; TGF-beta2
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 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]
Expression
Broad expression in prostate (RPKM 9.5), lung (RPKM 6.3) and 18 other tissues See more
Orthologs
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Genomic context

See TGFB2 in Genome Data Viewer
Location:
1q41
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (218345336..218444619)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (218518678..218617961)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 15 homolog Neighboring gene ribosomal protein S26 pseudogene 17 Neighboring gene TGFB2 antisense RNA 1 (head to head) Neighboring gene TGFB2 overlapping transcript 1 Neighboring gene long intergenic non-protein coding RNA 2869 Neighboring gene uncharacterized LOC105372924

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
GeneReviews: Not available
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
GeneReviews: Not available
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Loeys-Dietz syndrome 4
MedGen: C3553762 OMIM: 614816 GeneReviews: Loeys-Dietz Syndrome
Compare labs
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat protein permits the survival and replication of a non-pathogenic trypanosomatid in macrophages through TGF-beta production PubMed
tat Transforming growth factor, beta 2 (TGF-beta2) is upregulated by HIV-1 Tat treatment in human epithelial cells PubMed
Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed
vpu HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to activate release of transforming growth factor beta to culture supernatant, which correlates with increased activity of the AP-1 transcription factor PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116892

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables type II transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables type II transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables type II transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables type II transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables type III transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables type III transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables type III transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ascending aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrial septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrial septum primum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiac muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardioblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell-cell junction organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in collagen fibril organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cranial skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dopamine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryo development ending in birth or egg hatching TAS
Traceable Author Statement
more info
PubMed 
involved_in embryonic digestive tract development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epithelial to mesenchymal transition TAS
Traceable Author Statement
more info
PubMed 
involved_in extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in eye development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in generation of neurons TAS
Traceable Author Statement
more info
PubMed 
involved_in glial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hair follicle development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hair follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hair follicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heart morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in male gonad development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membranous septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of Ras protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of alkaline phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of macrophage cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural retina development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neutrophil chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in odontogenesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in platelet degranulation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cardioblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of heart contraction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of integrin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ossification IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of pri-miRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of stress-activated MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of timing of catagen IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of apoptotic process involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT involved_in regulation of complement-dependent cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of timing of catagen IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transforming growth factor beta2 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to drug IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to wounding IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in salivary gland morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in somatic stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in substantia propria of cornea development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in uterine wall breakdown TAS
Traceable Author Statement
more info
PubMed 
involved_in uterus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transforming growth factor beta-2 proprotein
Names
BSC-1 cell growth inhibitor
cetermin
glioblastoma-derived T-cell suppressor factor
polyergin
prepro-transforming growth factor beta-2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027721.2 RefSeqGene

    Range
    4951..104286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135599.4NP_001129071.1  transforming growth factor beta-2 proprotein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001129071.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 2.
    Source sequence(s)
    AC096638
    Consensus CDS
    CCDS44318.1
    UniProtKB/Swiss-Prot
    P61812
    UniProtKB/TrEMBL
    Q59EG9
    Related
    ENSP00000355896.4, ENST00000366929.4
    Conserved Domains (2) summary
    cd19385
    Location:345441
    TGF_beta_TGFB2; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-2 (TGF-beta-2) and similar proteins
    pfam00688
    Location:21256
    TGFb_propeptide; TGF-beta propeptide
  2. NM_003238.6NP_003229.1  transforming growth factor beta-2 proprotein isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_003229.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC096638
    Consensus CDS
    CCDS1521.1
    UniProtKB/Swiss-Prot
    P61812
    UniProtKB/TrEMBL
    Q59EG9
    Related
    ENSP00000355897.4, ENST00000366930.9
    Conserved Domains (2) summary
    cd19385
    Location:317413
    TGF_beta_TGFB2; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-2 (TGF-beta-2) and similar proteins
    pfam00688
    Location:21228
    TGFb_propeptide; TGF-beta propeptide

RNA

  1. NR_138148.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC096638
  2. NR_138149.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC096638

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    218345336..218444619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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