TGFBI

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.^[5][6]

TGFBI
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X3B, 2LTB, 2LTC, 2VXP
Identifiers
Aliases	TGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced
External IDs	OMIM: 601692; MGI: 99959; HomoloGene: 37294; GeneCards: TGFBI; OMA:TGFBI - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.1 Start 136,028,988 bp[1] End 136,063,818 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B1|13 30.09 cM Start 56,757,336 bp[2] End 56,787,375 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid synovial joint pericardium tendon of biceps brachii monocyte synovial membrane skin of hip skin of thigh skin of abdomen gallbladder Top expressed in corneal stroma skin of external ear vas deferens conjunctival fornix ankle umbilical cord condyle molar tunica adventitia of aorta Paneth cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function integrin binding protein binding collagen binding extracellular matrix binding extracellular matrix structural constituent cell adhesion molecule binding Cellular component extracellular matrix basement membrane trans-Golgi network plasma membrane extracellular exosome extracellular space extracellular region collagen-containing extracellular matrix Biological process negative regulation of cell adhesion cell population proliferation chondrocyte differentiation angiogenesis response to stimulus visual perception cell adhesion extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7045 21810 Ensembl ENSG00000120708 ENSMUSG00000035493 UniProt Q15582 P82198 RefSeq (mRNA) NM_000358 NM_009369 RefSeq (protein) NP_000349 NP_033395 Location (UCSC) Chr 5: 136.03 – 136.06 Mb Chr 13: 56.76 – 56.79 Mb PubMed search [3] [4]
Wikidata
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Function

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 plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion.^[5]

Clinical significance

Mutations of the gene cause several forms of corneal dystrophies.^[7][8]

Reis-Bücklers corneal dystrophy. Light microscopy of cornea showing characteristic red stained deposits of mutated TGFBI protein in the superficial corneal stroma. Masson's trichrome stain.