Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7045
Gene name Gene Name - the full gene name approved by the HGNC.
Transforming growth factor beta induced
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGFBI
Synonyms (NCBI Gene) Gene synonyms aliases
BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein pl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121909208 C>T Pathogenic Coding sequence variant, missense variant
rs121909209 G>A Pathogenic Coding sequence variant, missense variant
rs121909210 C>A,T Pathogenic Coding sequence variant, missense variant
rs121909211 G>A,T Pathogenic Coding sequence variant, missense variant
rs121909212 C>A,G,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001208 hsa-miR-21-5p Luciferase reporter assay, Western blot 19136465
MIRT006894 hsa-miR-9-5p In situ hybridization, Luciferase reporter assay 21720722
MIRT028431 hsa-miR-30a-5p Proteomics 18668040
MIRT028995 hsa-miR-26b-5p Microarray 19088304
MIRT001208 hsa-miR-21-5p Microarray 18591254
Transcription factors
Transcription factor Regulation Reference
RB1 Unknown 7680889
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 IEP 11866539
GO:0002062 Process Chondrocyte differentiation IEA
GO:0005178 Function Integrin binding TAS 1388724
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 23979707, 25037231, 27559042, 28327460, 28675934
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601692 11771 ENSG00000120708
Protein
UniProt ID Q15582
Protein name Transforming growth factor-beta-induced protein ig-h3 (Beta ig-h3) (Kerato-epithelin) (RGD-containing collagen-associated protein) (RGD-CAP)
Protein function Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).
PDB 1X3B , 2LTB , 2LTC , 2VXP , 5NV6 , 7AS7 , 7ASC , 7ASG , 8HGA , 8HIA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02469 Fasciclin 114 238 Fasciclin domain Domain
PF02469 Fasciclin 251 373 Fasciclin domain Domain
PF02469 Fasciclin 386 500 Fasciclin domain Domain
PF02469 Fasciclin 513 634 Fasciclin domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289). {ECO:0000269|PubMed:27609313, ECO:0000269|PubMed:8077289}.
Sequence
Sequence length 683
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Corneal Dystrophy Corneal dystrophy, lattice type 3A, corneal dystrophy rs121909212, rs121909214 N/A
Epithelial Basement Membrane Dystrophy epithelial basement membrane dystrophy rs121909216 N/A
Groenouw Corneal Dystrophy Groenouw corneal dystrophy type I rs121909208, rs121909210 N/A
Thiel-Behnke Corneal Dystrophy thiel-behnke corneal dystrophy rs121909209 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia, Insomnia (standard GWA) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 21617751, 22155582, 23592924, 24302499, 28381645, 32132634
Adenocarcinoma Associate 30726660
Adenocarcinoma Follicular Stimulate 27025787
Adenocarcinoma of Lung Associate 22159598, 30726660, 7738366
Amyloidosis Associate 23592924, 31197037
Anemia Diamond Blackfan Associate 26258650
Arthritis Rheumatoid Stimulate 16947382
Arthritis Rheumatoid Associate 36398072
Ascites Associate 32312959, 34614287
Atrial Fibrillation Associate 36398072