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; AllianceGenome:HGNC:11774
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:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (91680343..91906002, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (91524931..91750857, complement)
105.20220307	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?

Exosomal miR-103a-3p from Crohn's Creeping Fat-Derived Adipose-Derived Stem Cells Contributes to Intestinal Fibrosis by Targeting TGFBR3 and Activating Fibroblasts.
Title: Exosomal miR-103a-3p from Crohn's Creeping Fat-Derived Adipose-Derived Stem Cells Contributes to Intestinal Fibrosis by Targeting TGFBR3 and Activating Fibroblasts.
MEX3B inhibits collagen production in eosinophilic nasal polyps by downregulating epithelial cell TGFBR3 mRNA stability.
Title: MEX3B inhibits collagen production in eosinophilic nasal polyps by downregulating epithelial cell TGFBR3 mRNA stability.
Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?
Title: Does TGFBR3 Polymorphism Increase the Risk of Silent Cerebral Infarction in Egyptian Children with Sickle Cell Disease?
Altered Endometrial Expression of alpha-Inhibin Subunit and Its Co-Receptor Betaglycan in Infertile Women with Endometriosis.
Title: Altered Endometrial Expression of α-Inhibin Subunit and Its Co-Receptor Betaglycan in Infertile Women with Endometriosis.
TGFBR3 supports anoikis through suppressing ATF4 signaling.
Title: TGFBR3 supports anoikis through suppressing ATF4 signaling.
Transforming Growth Factor Beta Receptor 3 (TGFBR3)-Associated Membranous Nephropathy.
Title: Transforming Growth Factor Beta Receptor 3 (TGFBR3)-Associated Membranous Nephropathy.
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.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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

EBI GWAS Catalog

Description
A genome-wide association study of optic disc parameters. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. 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
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

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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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP binding	IPI Inferred from Physical Interaction more info	PubMed
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
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
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	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity	IDA Inferred from Direct Assay 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 transmembrane signaling 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
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
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
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 SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	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 extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
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 positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	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 cell migration involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
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 transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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
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
located_in cell surface	ISS Inferred from Sequence or Structural Similarity 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 space	HDA 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 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

24852..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/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/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

A0AUW8, A8K5N0, B9EG88, Q03167, Q5T2T4, Q5U731, Q9UGI2

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

91680343..91906002 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429247.1 → XP_047285203.1 transforming growth factor beta receptor type 3 isoform X1

UniProtKB/Swiss-Prot

A0AUW8, A8K5N0, B9EG88, Q03167, Q5T2T4, Q5U731, Q9UGI2
XM_047429256.1 → XP_047285212.1 transforming growth factor beta receptor type 3 isoform X2

UniProtKB/TrEMBL

A0A0A8KWK3
XM_006710867.3 → 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

A0AUW8, A8K5N0, B9EG88, Q03167, Q5T2T4, Q5U731, Q9UGI2

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
XM_047429271.1 → XP_047285227.1 transforming growth factor beta receptor type 3 isoform X2

UniProtKB/TrEMBL

A0A0A8KWK3
XM_047429255.1 → XP_047285211.1 transforming growth factor beta receptor type 3 isoform X1

UniProtKB/Swiss-Prot

A0AUW8, A8K5N0, B9EG88, Q03167, Q5T2T4, Q5U731, Q9UGI2
XM_047429261.1 → XP_047285217.1 transforming growth factor beta receptor type 3 isoform X2

UniProtKB/TrEMBL

A0A0A8KWK3
XM_047429254.1 → XP_047285210.1 transforming growth factor beta receptor type 3 isoform X1

UniProtKB/Swiss-Prot

A0AUW8, A8K5N0, B9EG88, Q03167, Q5T2T4, Q5U731, Q9UGI2
XM_047429273.1 → XP_047285229.1 transforming growth factor beta receptor type 3 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

91524931..91750857 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338530.1 → XP_054194505.1 transforming growth factor beta receptor type 3 isoform X1
XM_054338533.1 → XP_054194508.1 transforming growth factor beta receptor type 3 isoform X2
XM_054338529.1 → XP_054194504.1 transforming growth factor beta receptor type 3 isoform X1
XM_054338535.1 → XP_054194510.1 transforming growth factor beta receptor type 3 isoform X2
XM_054338532.1 → XP_054194507.1 transforming growth factor beta receptor type 3 isoform X1
XM_054338534.1 → XP_054194509.1 transforming growth factor beta receptor type 3 isoform X2
XM_054338531.1 → XP_054194506.1 transforming growth factor beta receptor type 3 isoform X1
XM_054338536.1 → XP_054194511.1 transforming growth factor beta receptor type 3 isoform X3