TGFB3 transforming growth factor beta 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGFB3provided by HGNC
Official Full Name: transforming growth factor beta 3provided by HGNC
Primary source: HGNC:HGNC:11769
See related: Ensembl:ENSG00000119699 MIM:190230
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: ARVD; LDS5; RNHF; ARVD1; TGF-beta3
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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
Expression: Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 14q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	14	NC_000014.9 (75958061..75983011, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (76424440..76449334, complement)

Chromosome 14 - NC_000014.9 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGFb/Activin signaling is activated through an ActivinB autocrine mechanism in a subset of Group 3 medulloblastmas.
Title: An autocrine ActivinB mechanism drives TGFβ/Activin signaling in Group 3 medulloblastoma.
rare variant in the promoter region of TGFbeta3 (rs117462711) creates a differential binding site
Title: TGFβ3, MSX1, and MMP3 as Candidates for NSCL±P in an Indian Population.
No significant differences in active TGF-beta3 concentration were found among the sample groups
Title: TGF-β concentrations and activity are down-regulated in the aqueous humor of patients with neovascular age-related macular degeneration.
Influence of TGF-beta3, EGF, and BGN on SOX9 and RUNX2 Expression in Human Chondrogenic Progenitor Cells
Title: The Influence of TGF-β3, EGF, and BGN on SOX9 and RUNX2 Expression in Human Chondrogenic Progenitor Cells.
TGF-beta3 supports ASC survival while having a limited effect on gene expression including upregulation of CXCR4.
Title: Growth Factor-like Gene Regulation Is Separable from Survival and Maturation in Antibody-Secreting Cells.
our results indicate that TGFb2 is the most potent inducer of Endothelial-to-mesenchymal transition (EndMT) and that TGFb1- and TGFb3-induced EndMT necessitates a paracrine loop involving TGFb2.
Title: Isoform-specific effects of transforming growth factor β on endothelial-to-mesenchymal transition.
Decreased placental Vitamin D receptor expression contributes to altered expression of TGFbeta3 in fetal growth restriction.
Title: Altered downstream target gene expression of the placental Vitamin D receptor in human idiopathic fetal growth restriction.
this study shows higher peritoneum and serum levels of TGF-beta3 in women with endometriosis
Title: The involvement of multifunctional TGF-β and related cytokines in pathogenesis of endometriosis.
TGFbeta3 promotes E2F4-VHL association and contributes to VHL gene repression in preeclampsia patients.
Title: The von Hippel Lindau tumour suppressor gene is a novel target of E2F4-mediated transcriptional repression in preeclampsia.
The results of this study show that Hif-1alpha Pro582Ser and TGF-beta3 IVS5+104 A/G SfaN1 polymorphisms may play a role in neural tube defects.
Title: Studying the C1772T polymorphism of Hif-1α and TGF-β3 IVS5+104 A/G polymorphism in children with congenital non-syndromic neural tube defects and their mothers.

Submit: New GeneRIF Correction See all GeneRIFs (148)

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
Arrhythmogenic right ventricular dysplasia, familial 1 MedGen: C1862511 OMIM: 107970 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy	Compare labs
Loeys-Dietz syndrome 5 MedGen: C3810012 OMIM: 615582 GeneReviews: Loeys-Dietz Syndrome	Compare labs

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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Replication interactions

Interaction	Pubs
Knockdown of transforming growth factor, beta 3 (TGFB3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70130 (e-PCR)
- UniSTS:42000

SHGC-11931 (e-PCR)
- UniSTS:54821

D14S42 (e-PCR), detects polymorphism
- UniSTS:55083

Tgfb3 (e-PCR), detects polymorphism
- UniSTS:536425

RH79157 (e-PCR)
- UniSTS:26226

hstgf37 (e-PCR)
- UniSTS:85886

SHGC-30624 (e-PCR)
- UniSTS:2468

GDB:386107 (e-PCR)
- UniSTS:67287

Homology

Homologs of the TGFB3 gene: The TGFB3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 313 organisms have orthologs with human gene TGFB3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
cytokine activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
growth factor activity	IEA Inferred from Electronic Annotation more info
identical protein binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-containing complex binding	IEA Inferred from Electronic Annotation more info
transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
type I transforming growth factor beta receptor binding	IDA Inferred from Direct Assay more info	PubMed
type II transforming growth factor beta receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
type II transforming growth factor beta receptor binding	IDA Inferred from Direct Assay more info	PubMed
type II transforming growth factor beta receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
type II transforming growth factor beta receptor binding	IPI Inferred from Physical Interaction more info	PubMed
type III transforming growth factor beta receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
type III transforming growth factor beta receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
activation of MAPK activity	IEA Inferred from Electronic Annotation more info
aging	IEA Inferred from Electronic Annotation more info
cell-cell junction organization	IDA Inferred from Direct Assay more info	PubMed
detection of hypoxia	IDA Inferred from Direct Assay more info	PubMed
digestive tract development	IEA Inferred from Electronic Annotation more info
embryonic neurocranium morphogenesis	IEA Inferred from Electronic Annotation more info
face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
female pregnancy	IEA Inferred from Electronic Annotation more info
frontal suture morphogenesis	IEA Inferred from Electronic Annotation more info
in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
inner ear development	IEA Inferred from Electronic Annotation more info
lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
mammary gland development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of macrophage cytokine production	IDA Inferred from Direct Assay more info	PubMed
negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of vascular smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
odontogenesis	NAS Non-traceable Author Statement more info	PubMed
ossification involved in bone remodeling	IEP Inferred from Expression Pattern more info	PubMed
platelet degranulation	TAS Traceable Author Statement more info
positive regulation of SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of bone mineralization	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of cell division	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
positive regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of pathway-restricted SMAD protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of pathway-restricted SMAD protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
positive regulation of tight junction disassembly	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell proliferation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
NOT regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
response to estrogen	IEA Inferred from Electronic Annotation more info
response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
response to laminar fluid shear stress	IEA Inferred from Electronic Annotation more info
response to progesterone	IDA Inferred from Direct Assay more info	PubMed
salivary gland morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
secondary palate development	ISS Inferred from Sequence or Structural Similarity more info
transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
uterine wall breakdown	TAS Traceable Author Statement more info	PubMed
wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
T-tubule	IEA Inferred from Electronic Annotation more info
cell surface	IEA Inferred from Electronic Annotation more info
collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	IC Inferred by Curator more info	PubMed
platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transforming growth factor beta-3 proprotein

Names: prepro-transforming growth factor beta-3

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_011715.1 RefSeqGene

Range

4728..28653

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_399

mRNA and Protein(s)

NM_001329938.2 → NP_001316867.1 transforming growth factor beta-3 proprotein isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in an early stop codon and a novel 3' UTR compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1.

Source sequence(s)

AF107885, BC018503, BM804677, CN417712, DA196236

Consensus CDS

CCDS86415.1

UniProtKB/Swiss-Prot

P10600

Related

ENSP00000451110.1, ENST00000556285.1

Conserved Domains (1) summary

pfam00688
Location:24 → 230

TGFb_propeptide; TGF-beta propeptide
NM_001329939.1 → NP_001316868.1 transforming growth factor beta-3 proprotein isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AF107885, BQ448273

Consensus CDS

CCDS9846.1

UniProtKB/Swiss-Prot

P10600

UniProtKB/TrEMBL

A5YM40

Conserved Domains (2) summary

pfam00019
Location:315 → 411

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:24 → 230

TGFb_propeptide; TGF-beta propeptide
NM_003239.5 → NP_003230.1 transforming growth factor beta-3 proprotein isoform 1 preproprotein

See identical proteins and their annotated locations for NP_003230.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AF107885, J03241

Consensus CDS

CCDS9846.1

UniProtKB/Swiss-Prot

P10600

UniProtKB/TrEMBL

A5YM40, B3KVH9

Related

ENSP00000238682.3, ENST00000238682.7

Conserved Domains (2) summary

pfam00019
Location:315 → 411

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:24 → 230

TGFb_propeptide; TGF-beta propeptide