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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Connective tissue disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15745937
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29769567
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 21515823
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 21515823
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17660861, 31989994 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37801139 Inhibit
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 21515823, 33062074, 33149723, 35781614 Associate
★☆☆☆☆
Found in Text Mining only
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) Intracranial Aneurysm ORPHANET_DG 19299629
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31307515
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 39738466, 40139558 Associate
★☆☆☆☆
Found in Text Mining only