LTBP2: Latent Transforming Growth Factor Beta Binding Protein 2
A key extracellular matrix protein implicated in glaucoma, cardiovascular defects, and cancer
Gene Information Card
| Symbol | LTBP2 |
|---|---|
| Full Name | Latent Transforming Growth Factor Beta Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 4053 ncbi.nlm.nih.gov/gene/4053 |
| Ensembl ID | ENSG00000119681 |
| UniProt ID | Q14767 |
| OMIM ID | 602091 |
| HGNC ID | HGNC:6715 |
| Aliases | C14orf141, LTBP-2, LTBP3 |
Description
LTBP2 encodes latent transforming growth factor beta binding protein 2, a member of the LTBP family that regulates TGF-beta bioavailability by anchoring latent TGF-beta complexes to the extracellular matrix. It is essential for microfibril assembly, particularly in ocular tissues, and plays a role in cell adhesion, migration, and elastic fiber formation. Mutations in LTBP2 cause autosomal recessive primary congenital glaucoma and Weill-Marchesani syndrome. Altered expression is linked to cancer progression and fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary congenital glaucoma (PCG) | Loss-of-function mutations disrupt microfibril structure in the trabecular meshwork, impairing aqueous humor outflow | OMIM #613086; ClinVar |
| Weill-Marchesani syndrome 3 (WMS3) | Homozygous or compound heterozygous mutations in LTBP2 cause lens dislocation, short stature, and brachydactyly | OMIM #614819; ClinVar |
| Microspherophakia | LTBP2 mutations lead to spherical lens and high myopia, often with glaucoma | OMIM #251750; ClinVar |
| Marfan syndrome-like features | LTBP2 variants may contribute to aortic root dilation and skeletal abnormalities | OMIM #602091; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 28.5 | High |
| Heart | 22.3 | High |
| Placenta | 18.7 | Medium |
| Skeletal muscle | 15.1 | Medium |
| Liver | 8.2 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 45.2 | High expression |
| A549 (lung carcinoma) | 32.8 | High expression |
| MCF7 (breast carcinoma) | 12.4 | Moderate expression |
| HEK293 (embryonic kidney) | 9.1 | Low expression |
| K562 (leukemia) | 3.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1390C>T (p.Arg464*) | Nonsense | Rare | Loss of function; associated with PCG |
| c.2254C>T (p.Arg752Trp) | Missense | Rare | Impaired protein folding; WMS3 |
| c.3179G>A (p.Arg1060Gln) | Missense | Rare | Reduced TGF-beta binding; PCG |
| c.4033C>T (p.Arg1345*) | Nonsense | Rare | Premature termination; severe glaucoma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; cause recessive PCG and WMS3
Gain of Function (GOF)
Not reported for LTBP2; no activating mutations described
Dominant Negative (DN)
Not established; all disease-associated mutations are recessive
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Elastic fibre formation (Reactome R-HSA-1566948)
Protein Summary
LTBP2 is a 1821-amino acid extracellular matrix protein containing multiple EGF-like domains and a TGF-beta binding domain. It covalently binds latent TGF-beta and targets it to the matrix, regulating TGF-beta activation. Unlike other LTBPs, LTBP2 does not form covalent complexes with TGF-beta but modulates microfibril assembly. It is highly expressed in lung, heart, and placenta. Mutations cause structural eye defects and connective tissue disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LTBP2 Knockout HEK293 Cell Line | EDJ-KQ5149 | Human | 4053 | Details Get a Quote |
| LTBP2 Knockout A-549 Cell Line | EDJ-KQ28120 | Human | 4053 | Details Get a Quote |
| LTBP2 Knockout HeLa Cell Line | EDJ-KQ28122 | Human | 4053 | Details Get a Quote |
| LTBP2 Knockout HCT 116 Cell Line | EDJ-KQ26888 | Human | 4053 | Details Get a Quote |
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