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TGFBI (transforming growth factor beta induced)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7045
Gene nameGene Name - the full gene name approved by the HGNC.
Transforming growth factor beta induced
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TGFBI
SynonymsGene synonyms aliases
BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IEA
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 23979707, 25037231, 27559042, 28327460, 28675934
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 683
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Amyloid fiber formation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Corneal dystrophy Corneal dystrophy, Corneal Dystrophy, Lattice Type IIIA rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878 26748743, 21462384, 12400061, 16809844, 23884333, 9497262, 11004271, 17668063, 9727509, 9497262, 15790870
Epithelial basement membrane dystrophy Epithelial basement membrane dystrophy rs121909216
Groenouw corneal dystrophy Groenouw corneal dystrophy type I (disorder) rs121909208, rs121909210 21264234, 15623763, 9727509, 17668063
Unknown
Disease name Disease term dbSNP ID References
Avellino corneal dystrophy Avellino corneal dystrophy 22815629, 9727509, 17668063
Corneal dystrophy, epithelial basement membrane Corneal dystrophy, epithelial basement membrane 16652336, 17668063, 9727509
Corneal dystrophy, epithelial of meesmann Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal erosion Corneal erosion

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