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; AllianceGenome:HGNC:11769
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
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Genomic context

Location:: 14q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (75958097..75983011, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (70167287..70192202, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (76424440..76449354, 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?

TGFB3 gene mutation associated with mandibular coronoid process hyperplasia: a family investigation.
Title: TGFB3 gene mutation associated with mandibular coronoid process hyperplasia: a family investigation.
TGF-beta3 in differentiation and function of Tph-like cells and its relevance to disease activity in patients with systemic lupus erythematosus.
Title: TGF-β3 in differentiation and function of Tph-like cells and its relevance to disease activity in patients with systemic lupus erythematosus.
Investigating the Role of TGF-beta Signaling Pathways in Human Corneal Endothelial Cell Primary Culture.
Title: Investigating the Role of TGF-β Signaling Pathways in Human Corneal Endothelial Cell Primary Culture.
Circulating levels of transforming growth factor beta-1, 2 and 3 in HIV associated preeclamptic pregnancies.
Title: Circulating levels of transforming growth factor beta-1, 2 and 3 in HIV associated preeclamptic pregnancies.
Integrated Analysis of Cytokine Profiles in Malaria Patients Discloses Selective Upregulation of TGF-beta1, beta3, and IL-9 in Mild Clinical Presentation.
Title: Integrated Analysis of Cytokine Profiles in Malaria Patients Discloses Selective Upregulation of TGF-β1, β3, and IL-9 in Mild Clinical Presentation.
[Association between postpartum depression and concentrations of transforming growth factor-beta in human colostrum: a nested cohort study].
Title: [Association between postpartum depression and concentrations of transforming growth factor-β in human colostrum: a nested cohort study].
Fibrotic Response of Human Trabecular Meshwork Cells to Transforming Growth Factor-Beta 3 and Autotaxin in Aqueous Humor.
Title: Fibrotic Response of Human Trabecular Meshwork Cells to Transforming Growth Factor-Beta 3 and Autotaxin in Aqueous Humor.
Dedifferentiated Schwann cell-derived TGF-beta3 is essential for the neural system to promote wound healing.
Title: Dedifferentiated Schwann cell-derived TGF-β3 is essential for the neural system to promote wound healing.
Evaluation of the therapeutic efficacy of human bone marrow mesenchymal stem cells with COX-2 silence and TGF-beta3 overexpression in rabbits with antigen-induced arthritis.
Title: Evaluation of the therapeutic efficacy of human bone marrow mesenchymal stem cells with COX-2 silence and TGF-β3 overexpression in rabbits with antigen-induced arthritis.
TGFB3 downregulation causing chordomagenesis and its tumor suppression role maintained by Smad7.
Title: TGFB3 downregulation causing chordomagenesis and its tumor suppression role maintained by Smad7.

Submit: New GeneRIF Correction See all GeneRIFs (175)

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 1 MedGen: C1862511 OMIM: 107970 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	Compare labs
Rienhoff syndrome 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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables type I 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

Process	Evidence Code	Pubs
involved_in cell-cell junction organization	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in embryonic neurocranium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in frontal suture morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mammary gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of macrophage cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	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 population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of collagen biosynthetic process	IMP Inferred from Mutant Phenotype 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tight junction disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	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	PubMed
NOT involved_in regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to laminar fluid shear stress	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IDA Inferred from Direct Assay 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 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

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
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-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_001329939.2 → 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, Q8WV88

UniProtKB/TrEMBL

A5YM40

Related

ENSP00000502685.1, ENST00000556674.2

Conserved Domains (2) summary

cd19386
Location:312 → 412

TGF_beta_TGFB3; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-3 (TGF-beta-3) and similar proteins

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, Q8WV88

UniProtKB/TrEMBL

A5YM40, B3KVH9

Related

ENSP00000238682.3, ENST00000238682.8

Conserved Domains (2) summary

cd19386
Location:312 → 412

TGF_beta_TGFB3; transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-3 (TGF-beta-3) and similar proteins

pfam00688
Location:24 → 230

TGFb_propeptide; TGF-beta propeptide