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

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; AllianceGenome:HGNC:11768
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: mouse all
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Genomic context

Location:: 1q41

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (218345336..218444619)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (217580100..217679392)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (218518678..218617961)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Title: Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Introduction of miR-3613-3p as a regulator of transforming growth factor-beta (TGF-beta) signaling pathway in colorectal cancer.
Title: Introduction of miR-3613-3p as a regulator of transforming growth factor-β (TGF-β) signaling pathway in colorectal cancer.
Interleukin-1alpha inhibits transforming growth factor-beta1 and beta2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair.
Title: Interleukin-1α inhibits transforming growth factor-β1 and β2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair.
microRNA-141-3p Suppressed the Progression of the Clear Cell Renal Cell Carcinoma by Targeting Transforming Growth Factor Beta 2 Gene Expression.
Title: microRNA-141-3p Suppressed the Progression of the Clear Cell Renal Cell Carcinoma by Targeting Transforming Growth Factor Beta 2 Gene Expression.
MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFbeta2-Smad2/3 signaling pathway in cervical cancer.
Title: MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFβ2-Smad2/3 signaling pathway in cervical cancer.
Let-7c-3p suppresses lens epithelial-mesenchymal transition by inhibiting cadherin-11 expression in fibrotic cataract.
Title: Let-7c-3p suppresses lens epithelial-mesenchymal transition by inhibiting cadherin-11 expression in fibrotic cataract.
Low expression of TGF-beta2 and matrilin2 in human aqueous humour with acute primary angle closure.
Title: Low expression of TGF-β2 and matrilin2 in human aqueous humour with acute primary angle closure.
miRNA-660-3p inhibits malignancy in glioblastoma via negative regulation of APOC1-TGFbeta2 signaling pathway.
Title: miRNA-660-3p inhibits malignancy in glioblastoma via negative regulation of APOC1-TGFβ2 signaling pathway.
Hsa_circ_0001326 inhibited the proliferation, migration, and invasion of trophoblast cells via miR-145-5p/TGFB2 axis.
Title: Hsa_circ_0001326 inhibited the proliferation, migration, and invasion of trophoblast cells via miR-145-5p/TGFB2 axis.
The C/A functional polymorphism of TGF-beta2 gene (rs991967) in primary open angle glaucoma patients.
Title: The C/A functional polymorphism of TGF-β2 gene (rs991967) in primary open angle glaucoma patients.

Submit: New GeneRIF Correction See all GeneRIFs (284)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Loeys-Dietz syndrome 4 MedGen: C3553762 OMIM: 614816 GeneReviews: Loeys-Dietz Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TGFB2_1091 (e-PCR)
- UniSTS:277807

NoName (e-PCR)
- UniSTS:482870

GDB:438937 (e-PCR)
- UniSTS:157283

RH47450 (e-PCR)
- UniSTS:56424

STS-Y00083 (e-PCR)
- UniSTS:49525

SHGC-84426 (e-PCR)
- UniSTS:182145

L17877 (e-PCR)
- UniSTS:61334

G15948 (e-PCR)
- UniSTS:69018

RH69605 (e-PCR)
- UniSTS:34992

SHGC-76361 (e-PCR)
- UniSTS:49076

D1S3314 (e-PCR)
- UniSTS:6069

NoName (e-PCR)
- UniSTS:480697

SHGC-76368 (e-PCR)
- UniSTS:46779

D19S1060 (e-PCR)
- UniSTS:30159

D5S1597E (e-PCR)
- UniSTS:151019

G29668 (e-PCR)
- UniSTS:27641

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
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	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	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 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 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
acts_upstream_of epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
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 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 pharyngeal arch artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	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 miRNA transcription	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 phosphatidylinositol 3-kinase/protein kinase B signal transduction	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 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 population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay 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 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 signaling	IDA Inferred from Direct Assay more info	PubMed
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
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
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

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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)

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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

NG_027721.3 RefSeqGene

Range

5002..104285

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135599.4 → NP_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/TrEMBL

B2R7T2

Related

ENSP00000355896.4, ENST00000366929.4

Conserved Domains (2) summary

cd19385
Location:345 → 441

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:21 → 256

TGFb_propeptide; TGF-beta propeptide
NM_003238.6 → NP_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

B4DKC5, P08112, P61812, Q15579, Q15581, Q4VAV9

UniProtKB/TrEMBL

B2R7T2

Related

ENSP00000355897.4, ENST00000366930.9

Conserved Domains (2) summary

cd19385
Location:317 → 413

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:21 → 228

TGFb_propeptide; TGF-beta propeptide

RNA

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
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