latent TGF-beta binding protein 2; LTBP-2 (LTBP2, C14orf141, LTBP3)

Function

• may play an integral structural role in elastic-fiber architectural organization &/or assembly
• contains hydroxylated Asn (putative)
• forms part of the large latent transforming growth factor beta precursor complex
  • removal is essential for activation of the complex
• interacts with SDC4

Structure

• associates covalently with small latent TGF-beta complex via repeat B & repeat C (putative)
• belongs to the LTBP family
• contains 20 EGF-like domains
• contains 4 TB (TGF-beta binding) domains

Compartment

• secreted (putative)
• localized in nuchal ligament & aorta to the fibrillin- containing, microfibrillar component of elastic fibers (putative)

Expression

• expressed in lung
• weakly expressed in heart, placenta, liver & skeletal muscle

Pathology

• defects in LTBP2 are the cause of
  • primary congenital glaucoma type 3D
  • microspherophakia

More general terms

• latent TGF-beta binding protein (LTBP)
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4053
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4053
• OMIM: https://mirror.omim.org/entry/251750
• OMIM: https://mirror.omim.org/entry/602091
• OMIM: https://mirror.omim.org/entry/613086
• UniProt: http://www.uniprot.org/uniprot/Q14767.html