Preferred Label : Transforming Growth Factor-Beta-Induced Protein IG-H3;
NCIt synonyms : RGD-CAP; RGD-Containing Collagen Associated Protein; Keratoepithelin; Transforming Growth Factor Beta-Induced 68kDa Protein; Beta IGH3; RGD-Containing Collagen-Associated Protein; Kerato-Epithelin; Beta-IG-H3; Transforming Growth Factor-Beta Induced Protein-IGH3; ig-h3; Beta ig-h3; Transforming Growth Factor-Beta Induced Protein IGH3; TGFBI;
NCIt definition : Transforming growth factor-beta-induced protein ig-h3 (683 aa, 75 kDa) is encoded
by the human TGFBI gene. This protein plays a role in collagen-dependent cell-matrix
adhesion.;
NCIt note : Constitutively expressed by human TGFBI Gene in many tissues (high in corneal epithelium)
and TGF-beta induced, highly conserved 683-aa 75-kDa (precursor) extracellular Transforming
Growth Factor-Beta Induced Protein IGH3 contains an N-signal peptide, four 140-aa
FAS1 domains with internal homology, and a C-RGD motif. RGD is found in many extracellular
matrix proteins that modulate cell adhesion and serves as a ligand recognition sequence
for several integrins. With similar structure to fasciclin I (putative neuronal cell
adhesion protein) and OSF-2 (potential bone adhesion protein), TGFBI binds to types
I, II, and IV collagens. A potential adhesion protein, TGFBI may play role in cell-collagen
interactions, may be associated with microfibrils and the cell surface, and may be
involved in endochondral bone formation. TGFBI defects cause CDGG1, CDRB, CDL1, CDL3A,
and ACD. (NCI);
Origin ID : C38672;
UMLS CUI : C1527805;
OMIM relation
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
gene_encodes_gene_product
gene_product_has_associated_anatomy
gene_product_plays_role_in_biological_process