Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | TGFBI | contributors: mct/npt/pgu/shn - updated : 21-05-2012 |
HGNC name | transforming growth factor, beta-induced, 68kDa |
HGNC id | 11771 |
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Corresponding disease |
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Location | 5q31.1 Physical location : 135.364.583 - 135.399.506 | ||||||||||||
Synonym name | |||||||||||||
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Synonym symbol(s) | BIGH3, CDGG1, LCD1, MP78/70, RGD-CAP, LCD1, CSD1, CSD2, CSD3, CDB1, CDG2, CSD, EBMD, RGD-CAP |
DNA |
TYPE | functioning gene |
STRUCTURE | 34.92 kb 17 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | Y | status | confirmed |
Map | cen - D5S2115 - D5S816 - TGFBI - D5S393 - D5S399 - qter |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage | chondrocytes throughout all stages ( |
cell lines
fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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HOMOLOGY |
interspecies | ortholog to Tgfbi, Mus musculus |
ortholog to Tgfbi, Rattus norvegicus | |
ortholog to tgfbi, danio rerio | |
ortholog to TGFBI, Pan troglodytes |
Homologene |
FAMILY |
CATEGORY | secretory , structural protein |
SUBCELLULAR LOCALIZATION | extracellular |
plasma membrane | |
intracellular | |
intracellular,cytoplasm,organelle,Golgi | |
text | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling | sensory transduction/vision |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
induced by | the hypoxia (one of multiple stress-related stimuli that may induce TGFBI) |
Other | both chromatin structure and regulatory elements in the TGFBI promoter region that bind factors Sp1 and Sp3 regulate constitutive expression of TGFBI |
ASSOCIATED DISORDERS |
corresponding disease(s) | CDL3A , CSD3 , CSD4 , CSD5 , EBMD1 , CDGG1 |
Other morbid association(s) |
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Susceptibility | to diffuse idiopathic skeletal hyperostosis in Japanese |
Variant & Polymorphism
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Candidate gene | may serve as a diagnostic marker in brain tumors | |
Marker
Therapy target
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ANIMAL & CELL MODELS |