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MGP003122

UniProt Annotations

Entry Information
Gene Nametransforming growth factor, beta-induced, 68kDa
Protein EntryBGH3_HUMAN
UniProt IDQ15582
SpeciesHuman
Comments
Comment typeDescription
DiseaseCorneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. {ECO:0000269|PubMed:16652336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. {ECO:0000269|PubMed:15623763}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. {ECO:0000269|PubMed:10837380, ECO:0000269|PubMed:11413411, ECO:0000269|PubMed:14597039, ECO:0000269|PubMed:15531312, ECO:0000269|PubMed:15623763, ECO:0000269|PubMed:15838722, ECO:0000269|PubMed:16541014, ECO:0000269|PubMed:17013691, ECO:0000269|PubMed:9799082}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. {ECO:0000269|PubMed:15790870, ECO:0000269|PubMed:9497262}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. {ECO:0000269|PubMed:10660331, ECO:0000269|PubMed:15623763, ECO:0000269|PubMed:9780098}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCorneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.
InductionBy TGFB1.
PtmGamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium (By similarity). {ECO:0000250}.
SimilarityContains 1 EMI domain. {ECO:0000255|PROSITE- ProRule:PRU00384}.
SimilarityContains 4 FAS1 domains. {ECO:0000255|PROSITE- ProRule:PRU00082}.
Subcellular LocationSecreted, extracellular space, extracellular matrix. Note=May be associated both with microfibrils and with the cell surface.
Tissue SpecificityHighly expressed in the corneal epithelium. {ECO:0000269|PubMed:8077289}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TGFBIID42539ch5q31.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfbi/";
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