InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LTBP2

Summary

InnateDB Protein

IDBP-12201.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LTBP2

Protein Name

latent transforming growth factor beta binding protein 2

Synonyms

C14orf141; GLC3D; LTBP3; MSPKA; MSTP031; WMS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000261978

InnateDB Gene

IDBG-12199 (LTBP2)

Protein Structure

UniProt Annotation

Function

May play an integral structural role in elastic-fiber architectural organization and/or assembly.

Subcellular Localization

Secreted {ECO:0000250}. Note=Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers. {ECO:0000250}.

Disease Associations

Glaucoma 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:0000269PubMed:19361779}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microspherophakia 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:0000269PubMed:20617341}. Note=The disease is caused by mutations affecting the gene represented in this entry.Weill-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:0000269PubMed:22539340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008201	heparin binding
GO:0019838	growth factor binding

Biological Process

GO:0006605	protein targeting
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0009306	protein secretion

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR017878 TB domain

PFAM

PF00008
PF07645
PF00683

PRINTS

PIRSF

SMART

SM00181
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q14767