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 |
rs121909214 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs121909215 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121909216 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
rs121909217 |
G>A,C |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |
rs267607109 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
rs267607110 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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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 |
GO:0005515 |
Function |
Protein binding |
IPI |
18083624, 19478074, 25416956, 32296183 |
GO:0005518 |
Function |
Collagen binding |
IPI |
19478074 |
GO:0005576 |
Component |
Extracellular region |
HDA |
27068509 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005604 |
Component |
Basement membrane |
IEA |
|
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Component |
Extracellular space |
IDA |
19478074 |
GO:0005802 |
Component |
Trans-Golgi network |
IDA |
19478074 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0007155 |
Process |
Cell adhesion |
IBA |
21873635 |
GO:0007162 |
Process |
Negative regulation of cell adhesion |
TAS |
8024701 |
GO:0007601 |
Process |
Visual perception |
IEA |
|
GO:0008283 |
Process |
Cell population proliferation |
IEA |
|
GO:0030198 |
Process |
Extracellular matrix organization |
IBA |
21873635 |
GO:0031012 |
Component |
Extracellular matrix |
IBA |
21873635 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
31197037 |
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0050839 |
Function |
Cell adhesion molecule binding |
IBA |
21873635 |
GO:0050840 |
Function |
Extracellular matrix binding |
IEA |
|
GO:0050896 |
Process |
Response to stimulus |
IEA |
|
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
23979707, 25037231, 27559042, 28327460, 28675934 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
20551380 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
ISS |
22261194 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19199708, 21362503 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
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.
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Associated diseases
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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 |
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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 |
Thiel-behnke corneal dystrophy |
Thiel-Behnke corneal dystrophy |
rs121909209 |
17668063, 26464103, 9727509 |
|
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 |
|
|
Corneal granular dystrophy |
Granular Dystrophy, Corneal |
|
|
Diabetic nephropathy |
Diabetic Nephropathy |
|
18682491 |
Erosion of cornea |
Recurrent erosion of cornea |
|
|
Amyloid polyneuropathy |
Familial Amyloid Polyneuropathy, Type V |
|
|
Glomerulosclerosis |
Nodular glomerulosclerosis |
|
18682491 |
Granular corneal dystrophy |
Granular corneal dystrophy type II, Granular corneal dystrophy type I |
|
|
Lattice corneal dystrophy |
Lattice corneal dystrophy Type I |
|
17013691, 16541014, 9799082, 10837380, 11413411, 17668063, 15838722, 15531312, 14597039, 15623763, 9727509, 12770961 |
Miscarriage |
Miscarriage |
|
18539642 |
Reis-bucklers corneal dystrophy |
Reis-Bucklers` corneal dystrophy, Reis-Bücklers corneal dystrophy |
|
9780098, 10660331, 9727509, 17668063, 15623763, 20360992 |
Septicemia |
Septicemia |
|
27887929 |
Strabismus |
Strabismus |
|
|
Stroke |
Cerebrovascular accident |
|
26089329 |
|
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