Gene Gene information from NCBI Gene database.
Entrez ID 7045
Gene name Transforming growth factor beta induced
Gene symbol TGFBI
Synonyms (NCBI Gene)
BIGH3CDB1CDG2CDGG1CSDCSD1CSD2CSD3EBMDLCD1
Chromosome 5
Chromosome location 5q31.1
Summary 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.
11
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.
561
miRTarBase ID miRNA Experiments Reference
MIRT001208 hsa-miR-21-5p Luciferase reporter assayWestern blot 19136465
MIRT006894 hsa-miR-9-5p In situ hybridizationLuciferase 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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RB1 Unknown 7680889
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601692 11771 ENSG00000120708
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
146
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Avellino corneal dystrophy Pathogenic rs121909211 RCV000008318
RCV000995667
Corneal dystrophy Pathogenic; Likely pathogenic rs121909208, rs121909212 RCV006276050
RCV000779458
Corneal dystrophy, lattice type 3A Likely pathogenic; Pathogenic rs121909212, rs121909214 RCV000008320
RCV000008324
Epithelial basement membrane dystrophy Pathogenic rs121909216 RCV000008326
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs267607109, rs267607110 -
Cervical cancer Benign rs11242308 RCV005897917
Clear cell carcinoma of kidney Benign rs11242308, rs35151677 RCV005897919
RCV005897930
Colon adenocarcinoma Uncertain significance; Benign rs769820632, rs11242308, rs35151677 RCV005929288
RCV005897914
RCV005897926
Associations from Text MiningDisease 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