MGP Database

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MGP001844

UniProt Annotations

Entry Information
Gene Namelatent transforming growth factor beta binding protein 2
Protein EntryLTBP2_HUMAN
UniProt IDQ14767
SpeciesHuman
Comments
Comment typeDescription
CautionPubMed:7798248 reported that a complex is formed with TGFB1. PubMed:10930463 has shown that there is no association with TGFB1. {ECO:0000305}.
DiseaseGlaucoma 3, primary congenital, D (GLC3D) [MIM:613086]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:19361779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA) [MIM:251750]: A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation. {ECO:0000269|PubMed:20617341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseWeill-Marchesani syndrome 3 (WMS3) [MIM:614819]: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. {ECO:0000269|PubMed:22539340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainAssociates covalently with small latent TGF-beta complex via Repeat B and Repeat C. {ECO:0000250}.
FunctionMay play an integral structural role in elastic-fiber architectural organization and/or assembly.
InteractionQ9UBX5:FBLN5; NbExp=2; IntAct=EBI-1546118, EBI-947897;
PtmContains hydroxylated asparagine residues. {ECO:0000250}.
SimilarityBelongs to the LTBP family. {ECO:0000305}.
SimilarityContains 20 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 4 TB (TGF-beta binding) domains. {ECO:0000305}.
Subcellular LocationSecreted {ECO:0000250}. Note=Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers. {ECO:0000250}.
SubunitForms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with SDC4. {ECO:0000269|PubMed:20382221}.
Tissue SpecificityExpressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.
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