• Gene id: 7049

Gene Summary

• Gene Symbol: TGFBR3   Gene   UCSC   Ensembl
• Aliases: BGCAN, betaglycan
• Gene name: transforming growth factor beta receptor 3
• Alternate names: transforming growth factor beta receptor type 3, TGF-beta receptor type 3, TGF-beta receptor type III, TGFR-3, betaglycan proteoglycan, transforming growth factor beta receptor III,
• Gene location: 1p22.1 (91906001: 91680342)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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 TG
• OMIM: 600742

SNPs

rs12082710

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91689780T>A
NC_000001.11   g.91689780T>C
NC_000001.10   g.92155337T>A
NC_000001.10   g.92155337T>C
NG_027757.1   g.221223A>T
NG_027757.1   g.221223A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs9661103

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91870349T>A
NC_000001.11   g.91870349T>C
NC_000001.10   g.92335906T>A
NC_000001.10   g.92335906T>C
NG_027757.1   g.40654A>T
NG_027757.1   g.40654A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs17576372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91900617T>C
NC_000001.10   g.92366174T>C
NG_027757.1   g.10386A>G|SEQ=[T/C]|GENE=TGFBR3

Protein Summary

• Protein general information: Q03167  
  • Name: Transforming growth factor beta receptor type 3 (TGF beta receptor type 3) (TGFR 3) (Betaglycan) (Transforming growth factor beta receptor III) (TGF beta receptor type III)
  • Length: 851  
  • Mass: 93,499
• Sequence:

  MTSHYVIAIFALMSSCLATAGPEPGALCELSPVSASHPVQALMESFTVLSGCASRGTTGLPQEVHVLNLRTAGQG
  PGQLQREVTLHLNPISSVHIHHKSVVFLLNSPHPLVWHLKTERLATGVSRLFLVSEGSVVQFSSANFSLTAETEE
  RNFPHGNEHLLNWARKEYGAVTSFTELKIARNIYIKVGEDQVFPPKCNIGKNFLSLNYLAEYLQPKAAEGCVMSS
  QPQNEEVHIIELITPNSNPYSAFQVDITIDIRPSQEDLEVVKNLILILKCKKSVNWVIKSFDVKGSLKIIAPNSI
  GFGKESERSMTMTKSIRDDIPSTQGNLVKWALDNGYSPITSYTMAPVANRFHLRLENNAEEMGDEEVHTIPPELR
  ILLDPGALPALQNPPIRGGEGQNGGLPFPFPDISRRVWNEEGEDGLPRPKDPVIPSIQLFPGLREPEEVQGSVDI
  ALSVKCDNEKMIVAVEKDSFQASGYSGMDVTLLDPTCKAKMNGTHFVLESPLNGCGTRPRWSALDGVVYYNSIVI
  QVPALGDSSGWPDGYEDLESGDNGFPGDMDEGDASLFTRPEIVVFNCSLQQVRNPSSFQEQPHGNITFNMELYNT
  DLFLVPSQGVFSVPENGHVYVEVSVTKAEQELGFAIQTCFISPYSNPDRMSHYTIIENICPKDESVKFYSPKRVH
  FPIPQADMDKKRFSFVFKPVFNTSLLFLQCELTLCTKMEKHPQKLPKCVPPDEACTSLDASIIWAMMQNKKTFTK
  PLAVIHHEAESKEKGPSMKEPNPISPPIFHGLDTLTVMGIAFAAFVIGALLTGALWYIYSHTGETAGRQQVPTSP
  PASENSSAAHSIGSTQSTPCSSSSTA

• Structural information:
  • Protein Domains: ZP. (455-730)
  • Interpro: IPR001507  IPR017977  
  • Prosite: PS00682 PS51034
  • DIP: 5940
  • STRING: ENSP00000212355
• Other Databases: GeneCards:  TGFBR3  Malacards:  TGFBR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0001889	liver development	ISS	biological process
GO:0003007	heart morphogenesis	ISS	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	ISS	molecular function
GO:0005539	glycosaminoglycan binding	TAS	molecular function
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006955	immune response	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007181	transforming growth factor beta receptor complex assembly	IEA	biological process
GO:0008201	heparin binding	ISS	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0015026	coreceptor activity	IDA	molecular function
GO:0016049	cell growth	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0017134	fibroblast growth factor binding	IEA	molecular function
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IDA	biological process
GO:0034673	inhibin-betaglycan-ActRII complex	IDA	cellular component
GO:0034695	response to prostaglandin E	IDA	biological process
GO:0034699	response to luteinizing hormone	IDA	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043393	regulation of protein binding	IEA	biological process
GO:0046332	SMAD binding	IMP	molecular function
GO:0048185	activin binding	IEA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	ISS	biological process
GO:0051271	negative regulation of cellular component movement	IDA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060021	palate development	ISS	biological process
GO:0060038	cardiac muscle cell proliferation	ISS	biological process
GO:0060216	definitive hemopoiesis	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IDA	biological process
GO:0060318	definitive erythrocyte differentiation	ISS	biological process
GO:0060347	heart trabecula formation	ISS	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0001889	liver development	ISS	biological process
GO:0003007	heart morphogenesis	ISS	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	ISS	molecular function
GO:0005539	glycosaminoglycan binding	TAS	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006461	protein complex assembly	IEA	biological process
GO:0006955	immune response	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007181	transforming growth factor beta receptor complex assembly	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	ISS	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0015026	coreceptor activity	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016049	cell growth	IEA	biological process
GO:0016049	cell growth	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0017134	fibroblast growth factor binding	IEA	molecular function
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IDA	biological process
GO:0034673	inhibin-betaglycan-ActRII complex	IDA	cellular component
GO:0034695	response to prostaglandin E	IDA	biological process
GO:0034699	response to luteinizing hormone	IDA	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0043235	receptor complex	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0043393	regulation of protein binding	IEA	biological process
GO:0046332	SMAD binding	IMP	molecular function
GO:0048185	activin binding	IEA	molecular function
GO:0050431	transforming growth factor beta binding	IEA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	ISS	biological process
GO:0051271	negative regulation of cellular component movement	IDA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060021	palate development	ISS	biological process
GO:0060038	cardiac muscle cell proliferation	ISS	biological process
GO:0060216	definitive hemopoiesis	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IDA	biological process
GO:0060318	definitive erythrocyte differentiation	ISS	biological process
GO:0060347	heart trabecula formation	ISS	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070123	transforming growth factor beta receptor activity, type III	IEA	molecular function
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0001889	liver development	ISS	biological process
GO:0003007	heart morphogenesis	ISS	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	ISS	molecular function
GO:0005539	glycosaminoglycan binding	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0006955	immune response	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0008201	heparin binding	ISS	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0015026	coreceptor activity	IDA	molecular function
GO:0016049	cell growth	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0032354	response to follicle-stimulating hormone	IDA	biological process
GO:0034673	inhibin-betaglycan-ActRII complex	IDA	cellular component
GO:0034695	response to prostaglandin E	IDA	biological process
GO:0034699	response to luteinizing hormone	IDA	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0046332	SMAD binding	IMP	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	ISS	biological process
GO:0051271	negative regulation of cellular component movement	IDA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060021	palate development	ISS	biological process
GO:0060038	cardiac muscle cell proliferation	ISS	biological process
GO:0060216	definitive hemopoiesis	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IDA	biological process
GO:0060318	definitive erythrocyte differentiation	ISS	biological process
GO:0060347	heart trabecula formation	ISS	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0070123	transforming growth factor beta receptor activity, type III	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function

Diseases

Associated diseases	References
Cancer (prostate)	GAD: 12358857
Intracranial aneurysm	GAD: 19299629
Cleft defects	GAD: 18978678
Hyperparathyroidism	GAD: 20424473
Asthma	GAD: 20386084
Systemic lupus erythematosus (SLE)	GAD: 18174230
Bronchial hyperreactivity	GAD: 18315732
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Dupuytren's disease	GAD: 12873459
Premature ovarian failure (POF)	INFBASE: 24103122
Polycystic ovary syndrome (PCOS)	INFBASE: 20178540
Premature ovarian failure (POF)	INFBASE: 16613887
Testicular dysgenesis syndrome (TDS)	MIK: 22140272
Nonsyndromic cryptorchidism	MIK: 25390077
Chronic obstructive pulmonary disease (COPD)	GAD: 19131638
Keloids	GAD: 15009106
Priapism	GAD: 17408468
Cryptorchidism	MIK: 25390077
Testicular dysgenesis syndrome (TDS)	MIK: 22140272

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22140272	Testicular dysgenesis syndrome (TDS)		Danish, Norweg ian, No rdic	527 (488 patients with symptoms of TDS, 439 selected controls)	Male infertility	TGFBR3 BMP7
25390077	Cryptorchidism	rs9661103, rs10782968, rs17576372, rs11165059, rs9661103, rs10782968	Europea n	3562 (844 cases and 2,718 controls)	Male infertility	GWAS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq