Hs05761437_cn

• Gene Symbol: TGFBR3
• Assay Reference Genome Location: Chr.1:91680685 on build GRCh38
• Cytoband: 1p22.1

Target Gene Details

• Entrez Gene ID: 7049
• Gene Name: transforming growth factor beta receptor 3
• Gene Aliases: BGCAN, betaglycan
• Location: Chr.1:91680343-91906002 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TGFBR3	NM_001195683.1	17	6122	NP_001182612.1
	NM_001195684.1	18	5958	NP_001182613.1
	NM_003243.4	17	6125	NP_003234.2
	NR_036634.1	18	6222
	AI090023.1	1	351

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2714684	Chr.1:91095800 - 93049130 on Build GRCh38	Deletion	RPL5 RPAP2 BTBD8 GLMN FAM69A HFM1 TGFBR3 SETSIP SNORA66 CDC7 GFI1 EPHX4 HSP90B3P BRDT C1orf146 KIAA1107 SNORD21 EVI5
esv2763581	Chr.1:91603410 - 91738246 on Build GRCh38	Gain	HSP90B3P TGFBR3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

response to hypoxia
epithelial to mesenchymal transition
liver development
heart morphogenesis
immune response
transforming growth factor beta receptor signaling pathway
transforming growth factor beta receptor complex assembly
cell growth
cell migration
BMP signaling pathway
positive regulation of transforming growth factor beta receptor signaling pathway
negative regulation of transforming growth factor beta receptor signaling pathway
organ regeneration
response to follicle-stimulating hormone
response to prostaglandin E
response to luteinizing hormone
intracellular signal transduction
regulation of protein binding
negative regulation of epithelial cell proliferation
negative regulation of cellular component movement
ventricular cardiac muscle tissue morphogenesis
palate development
cardiac muscle cell proliferation
definitive hemopoiesis
cardiac epithelial to mesenchymal transition
definitive erythrocyte differentiation
heart trabecula formation
pathway-restricted SMAD protein phosphorylation

Function(s)

transforming growth factor beta-activated receptor activity
type II transforming growth factor beta receptor binding
transforming growth factor beta receptor binding
protein binding
glycosaminoglycan binding
heparin binding
coreceptor activity
fibroblast growth factor binding
PDZ domain binding
SMAD binding
activin binding
transforming growth factor beta binding
transforming growth factor beta receptor activity, type III