Human Gene LTBP2 (ENST00000261978.9) from GENCODE V44
Description: Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. (from RefSeq NM_000428) RefSeq Summary (NM_000428): The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000261978.9 Gencode Gene: ENSG00000119681.12 Transcript (Including UTRs) Position: hg38 chr14:74,498,183-74,612,237 Size: 114,055 Total Exon Count: 36 Strand: - Coding Region Position: hg38 chr14:74,500,884-74,611,944 Size: 111,061 Coding Exon Count: 36
ID:LTBP2_HUMAN DESCRIPTION: RecName: Full=Latent-transforming growth factor beta-binding protein 2; Short=LTBP-2; Flags: Precursor; FUNCTION: May play an integral structural role in elastic-fiber architectural organization and/or assembly. SUBUNIT: Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with SDC4. SUBCELLULAR LOCATION: Secreted (By similarity). Note=Localized in nuchal ligament and aorta to the fibrillin-containing, microfibrillar component of elastic fibers (By similarity). TISSUE SPECIFICITY: Expressed in lung, weakly expressed in heart, placenta, liver and skeletal muscle. DOMAIN: Associates covalently with small latent TGF-beta complex via Repeat B and Repeat C (By similarity). PTM: Contains hydroxylated asparagine residues (By similarity). DISEASE: Defects in LTBP2 are the cause of primary congenital glaucoma type 3D (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. DISEASE: Defects in LTBP2 are the cause of microspherophakia (MCSPH) [MIM:251750]. It is 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. DISEASE: Defects in LTBP2 are the cause of Weill-Marchesani syndrome 3 (WMS3) [MIM:614819]. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities. SIMILARITY: Belongs to the LTBP family. SIMILARITY: Contains 20 EGF-like domains. SIMILARITY: Contains 4 TB (TGF-beta binding) domains. CAUTION: PubMed:7798248 reported that a complex is formed with TGFB1. PubMed:10930463 has shown that there is no association with TGFB1.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14767
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.