TGFBR3 transforming growth factor beta receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGFBR3provided by HGNC
Official Full Name: transforming growth factor beta receptor 3provided by HGNC
Primary source: HGNC:HGNC:11774
See related: Ensembl:ENSG00000069702 MIM:600742
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: BGCAN; betaglycan
Summary: This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in fat (RPKM 40.0), ovary (RPKM 37.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (91680343..91906002, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (92145900..92371559, complement)

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: 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?

MiRNA-107 enhances the malignant progression of pancreatic cancer by targeting TGFBR3.
Title: MiRNA-107 enhances the malignant progression of pancreatic cancer by targeting TGFBR3.
Inhibiting microRNA-424 in bone marrow mesenchymal stem cells-derived exosomes suppresses tumor growth in colorectal cancer by upregulating TGFBR3.
Title: Inhibiting microRNA-424 in bone marrow mesenchymal stem cells-derived exosomes suppresses tumor growth in colorectal cancer by upregulating TGFBR3.
Transforming Growth Factor Beta Receptor 3 Haplotypes in Sickle Cell Disease Are Associated with Lipid Profile and Clinical Manifestations.
Title: Transforming Growth Factor Beta Receptor 3 Haplotypes in Sickle Cell Disease Are Associated with Lipid Profile and Clinical Manifestations.
Up-regulation of TbetaRIII facilitates the osteogenesis of supraspinous ligament-derived fibroblasts from patients with ankylosing spondylitis.
Title: Up-regulation of TβRIII facilitates the osteogenesis of supraspinous ligament-derived fibroblasts from patients with ankylosing spondylitis.
ALK1 regulates the internalization of endoglin and the type III TGF-beta receptor.
Title: ALK1 regulates the internalization of endoglin and the type III TGF-β receptor.
A tumor-promoting role for soluble TbetaRIII in glioblastoma.
Title: A tumor-promoting role for soluble TβRIII in glioblastoma.
TGFBR3 Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia.
Title: <i>TGFBR3</i> Polymorphisms (rs1805110 and rs7526590) Are Associated with Laboratory Biomarkers and Clinical Manifestations in Sickle Cell Anemia.
TGFBR3 is an independent unfavourable prognostic marker in oesophageal squamous cell cancer and is positively correlated with Ki-67.
Title: TGFBR3 is an independent unfavourable prognostic marker in oesophageal squamous cell cancer and is positively correlated with Ki-67.
Exploring new genetic variants within COL5A1 intron 4-exon 5 region and TGF-beta family with risk of anterior cruciate ligament ruptures.
Title: Exploring new genetic variants within COL5A1 intron 4-exon 5 region and TGF-β family with risk of anterior cruciate ligament ruptures.
these results suggest that the clustered miR-23b-3p and miR-27b-3p consistently promote atrial fibrosis by targeting TGFBR3 to activate Smad3 signalling in HAFs, suggesting that miR-23b-3p and miR-27b-3p are potential therapeutic targets for atrial fibrosis
Title: Novel role of the clustered miR-23b-3p and miR-27b-3p in enhanced expression of fibrosis-associated genes by targeting TGFBR3 in atrial fibroblasts.

Submit: New GeneRIF Correction See all GeneRIFs (106)

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
A genome-wide association study of optic disc parameters. GeneReviews: Not available
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. GeneReviews: Not available
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. GeneReviews: Not available
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available

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
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

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

SHGC-58228 (e-PCR)
- UniSTS:32527

G59838 (e-PCR)
- UniSTS:136987

D1S3573 (e-PCR)
- UniSTS:46638

SHGC-148101 (e-PCR)
- UniSTS:176192

RH68993 (e-PCR)
- UniSTS:59985

D1S3441 (e-PCR)
- UniSTS:74844

AL009304 (e-PCR)
- UniSTS:47206

D1S1588 (e-PCR), detects polymorphism
- UniSTS:39069

SHGC-30223 (e-PCR)
- UniSTS:76980

SHGC-75157 (e-PCR)
- UniSTS:3258

SHGC-75166 (e-PCR)
- UniSTS:28664

TGFBR3_3871 (e-PCR)
- UniSTS:462586

Homology

Homologs of the TGFBR3 gene: The TGFBR3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 418 organisms have orthologs with human gene TGFBR3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables SMAD binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables activin binding	IEA Inferred from Electronic Annotation more info
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables fibroblast growth factor binding	IEA Inferred from Electronic Annotation more info
enables glycosaminoglycan binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables glycosaminoglycan binding	ISS Inferred from Sequence or Structural Similarity more info
enables glycosaminoglycan binding	TAS Traceable Author Statement more info	PubMed
enables heparin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
contributes_to protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables transforming growth factor beta receptor activity, type III	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transforming growth factor beta-activated receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transforming growth factor beta-activated receptor activity	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

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cardiac epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in definitive erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in definitive hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epicardium-derived cardiac fibroblast cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial to mesenchymal transition	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart trabecula morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in liver development	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cellular component movement	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell proliferation	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 outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pathway-restricted SMAD protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein binding	IEA Inferred from Electronic Annotation more info
involved_in regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to follicle-stimulating hormone	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to luteinizing hormone	IDA Inferred from Direct Assay more info	PubMed
involved_in response to prostaglandin E	IDA Inferred from Direct Assay more info	PubMed
involved_in secondary palate development	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor complex assembly	IEA Inferred from Electronic Annotation 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 transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculogenesis involved in coronary vascular morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular compact myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
part_of inhibin-betaglycan-ActRII complex	IDA Inferred from Direct Assay more info	PubMed
located_in integral component of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transforming growth factor beta receptor type 3

Names: TGF-beta receptor type 3; TGF-beta receptor type III; TGFR-3; betaglycan proteoglycan; transforming growth factor beta receptor III

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_027757.1 RefSeqGene

Range

5001..230660

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195683.2 → NP_001182612.1 transforming growth factor beta receptor type 3 isoform b precursor

See identical proteins and their annotated locations for NP_001182612.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC099334, AI090023, AK225799, AK291345, BC136295, DA854401, DR002506

Consensus CDS

CCDS55614.1

UniProtKB/Swiss-Prot

Q03167

UniProtKB/TrEMBL

A0A0A8KWK3

Related

ENSP00000432638.1, ENST00000465892.6

Conserved Domains (2) summary

smart00241
Location:454 → 724

ZP; Zona pellucida (ZP) domain

pfam00100
Location:566 → 723

Zona_pellucida; Zona pellucida-like domain
NM_001195684.1 → NP_001182613.1 transforming growth factor beta receptor type 3 isoform b precursor

See identical proteins and their annotated locations for NP_001182613.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC099334, AI090023, AK225799, AK291345, BC136295, DA862176, DR002506

Consensus CDS

CCDS55614.1

UniProtKB/Swiss-Prot

Q03167

UniProtKB/TrEMBL

A0A0A8KWK3

Related

ENSP00000359426.2, ENST00000370399.6

Conserved Domains (2) summary

smart00241
Location:454 → 724

ZP; Zona pellucida (ZP) domain

pfam00100
Location:566 → 723

Zona_pellucida; Zona pellucida-like domain
NM_003243.5 → NP_003234.2 transforming growth factor beta receptor type 3 isoform a precursor

See identical proteins and their annotated locations for NP_003234.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC099334, AI090023, AK291345, BC136295, DA854401, DR002506

Consensus CDS

CCDS30770.1

UniProtKB/Swiss-Prot

Q03167

Related

ENSP00000212355.4, ENST00000212355.9

Conserved Domains (2) summary

smart00241
Location:455 → 725

ZP; Zona pellucida (ZP) domain

pfam00100
Location:567 → 724

Zona_pellucida; Zona pellucida-like domain

RNA

NR_036634.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC099334, AI090023, AK291345, BC136295, BC143869, DA854401, DR002506

Related

ENST00000533089.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

91680343..91906002 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006710867.2 → XP_006710930.1 transforming growth factor beta receptor type 3 isoform X1

See identical proteins and their annotated locations for XP_006710930.1

UniProtKB/Swiss-Prot

Q03167

Related

ENSP00000436127.1, ENST00000525962.5

Conserved Domains (2) summary

smart00241
Location:455 → 725

ZP; Zona pellucida (ZP) domain

pfam00100
Location:567 → 724

Zona_pellucida; Zona pellucida-like domain