Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7049
Gene name Gene Name - the full gene name approved by the HGNC.
Transforming growth factor beta receptor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGFBR3
Synonyms (NCBI Gene) Gene synonyms aliases
BGCAN, betaglycan
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005330 hsa-miR-21-5p Luciferase reporter assay, qRT-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 factor Regulation Reference
CREB5 Activation 21132541
GATA3 Unknown 24124001
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA 21873635
GO:0001570 Process Vasculogenesis IBA 21873635
GO:0001666 Process Response to hypoxia IEA
GO:0001837 Process Epithelial to mesenchymal transition IBA 21873635
GO:0001837 Process Epithelial to mesenchymal transition IDA 18184661
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600742 11774 ENSG00000069702
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic dissection Dissection of aorta rs1553507345
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Hypertension Hypertensive disease rs13306026
Intracranial aneurysm ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) rs1594095223 19299629
Unknown
Disease term Disease name Evidence References Source
Atherosclerosis Atherosclerosis ClinVar
Diabetes Diabetes GWAS
Multiple Sclerosis Multiple Sclerosis GWAS
Ischemic Stroke Ischemic Stroke GWAS
Associations from Text Mining
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