Gene Gene information from NCBI Gene database.
Entrez ID 7049
Gene name Transforming growth factor beta receptor 3
Gene symbol TGFBR3
Synonyms (NCBI Gene)
BGCANbetaglycan
Chromosome 1
Chromosome location 1p22.1
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 TG
miRNA miRNA information provided by mirtarbase database.
465
miRTarBase ID miRNA Experiments Reference
MIRT005330 hsa-miR-21-5p Luciferase reporter assayqRT-PCR 18829576
MIRT016418 hsa-miR-193b-3p Microarray 20304954
MIRT025118 hsa-miR-181a-5p Sequencing 20371350
MIRT027244 hsa-miR-101-3p Sequencing 20371350
MIRT005330 hsa-miR-21-5p Microarray 19253296
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CREB5 Activation 21132541
GATA3 Unknown 24124001
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001837 Process Epithelial to mesenchymal transition IBA
GO:0001837 Process Epithelial to mesenchymal transition IDA 18184661
GO:0001889 Process Liver development ISS
GO:0003007 Process Heart morphogenesis ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600742 11774 ENSG00000069702
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03167
Protein 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)
Protein function Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis (PubMed:12958365, PubMed:19416857). Initiates BMP, inhibin, and TGF-beta signaling pathways by interacting wi
PDB 7LBG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00100 Zona_pellucida 456 724 Zona pellucida-like domain Family
Sequence
MTSHYVIAIFALMSSCLATAGPEPGALCELSPVSASHPVQALMESFTVLSGCASRGTTGL
PQEVHVLNLRTAGQGPGQLQREVTLHLNPISSVHIHHKSVVFLLNSPHPLVWHLKTERLA
TGVSRLFLVSEGSVVQFSSANFSLTAETEERNFPHGNEHLLNWARKEYGAVTSFTELKIA
RNIYIKVGEDQVFPPKCNIGKNFLSLNYLAEYLQPKAAEGCVMSSQPQNEEVHIIELITP
NSNPYSAFQVDITIDIRPSQEDLEVVKNLILILKCKKSVNWVIKSFDVKGSLKIIAPNSI
GFGKESERSMTMTKSIRDDIPSTQGNLVKWALDNGYSPITSYTMAPVANRFHLRLENNAE
EMGDEEVHTIPPELRILLDPGALPALQNPPIRGGEGQNGGLPFPFPDISRRVWNEEGEDG
LPRPKDPVIPSIQLFPGLREPEEVQGSVDIALSVKCDNEKMIVAVEKDSFQASGYSGMDV
TLLDPTCKAKMNGTHFVLESPLNGCGTRPRWSALDGVVYYNSIVIQVPALGDSSGWPDGY
EDLESGDNGFPGDMDEGDASLFTRPEIVVFNCSLQQVRNPSSFQEQPHGNITFNMELYNT
DLFLVPSQGVFSVPENGHVYVEVSVTKAEQELGFAIQTCFISPYSNPDRMSHYTIIENIC
PKDESVKFYSPKRVHFPIPQADMDKKRFSFVFKPVFNTSLLFLQCELTLCTKMEKHPQKL
PKCV
PPDEACTSLDASIIWAMMQNKKTFTKPLAVIHHEAESKEKGPSMKEPNPISPPIFH
GLDTLTVMGIAFAAFVIGALLTGALWYIYSHTGETAGRQQVPTSPPASENSSAAHSIGST
QSTPCSSSSTA
Sequence length 851
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Likely benign rs137909765 RCV005933379
Connective tissue disorder Likely benign; Uncertain significance; Benign rs565379527, rs147485470, rs149079126, rs766091481, rs755000509 RCV000680616
RCV000680615
RCV000680617
RCV000680618
RCV000680619
Familial thoracic aortic aneurysm and aortic dissection Benign; Likely benign; Uncertain significance rs2228363, rs565379527, rs369086061, rs17883665, rs11466577, rs147586574 RCV000660328
RCV000660327
RCV000660326
RCV000660325
RCV000660324
RCV000660323
Gastric cancer Likely benign rs137909765 RCV005933378
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoameloblastoma Associate 29979612
Adenocarcinoma Inhibit 29769567
Adenocarcinoma of Lung Associate 29769567, 34036102
Allanson Pantzar McLeod syndrome Associate 22140272, 25390077, 30027931
Alzheimer Disease Associate 17660861, 31989994
Alzheimer Disease Inhibit 37801139
Anemia Sickle Cell Associate 21515823, 33062074, 33149723, 35781614
Aortic Dissection Associate 39738466, 40139558
Arthritis Rheumatoid Associate 34201265
Asthma Associate 20386084