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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LTBP2
latent transforming growth factor beta binding protein 2
Chromosome 14 Β· 14q24.3
NCBI Gene: 4053Ensembl: ENSG00000119681.13HGNC: HGNC:6715UniProt: Q14767
97PubMed Papers
23Diseases
0Drugs
77Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
supramolecular fiber organizationextracellular regionGO:0005615extracellular exosomecongenital glaucomamicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaWeill-Marchesani syndrome 3open-angle glaucoma
✦AI Summary

LTBP2 (latent transforming growth factor beta binding protein 2) is an extracellular matrix protein that plays a critical structural role in elastic fiber organization and microfibril assembly 1. The protein functions as a binding partner for latent TGF-Ξ², modulating transforming growth factor beta signaling pathways and regulating collagen biosynthesis and extracellular matrix organization 23. LTBP2 is translationally regulated by EPRS during cardiac fibrogenesis, with upregulation identified as a key proline-rich profibrotic gene alongside collagens 3. Clinically, LTBP2 mutations are associated with connective tissue disorders including Weill-Marchesani syndrome, primary congenital glaucoma, and Marfan-like syndromes with ocular manifestations 4. Beyond genetic disease, LTBP2 exhibits pathological roles in acquired conditions: it is secreted by cancer-associated fibroblasts in esophageal cancer, where it promotes metastasis and chemoresistance via integrin Ξ±6Ξ²4-Src signaling activation 5. In colorectal cancer liver metastases, LTBP2+ CAFs modulate collagen biosynthesis and ECM organization, making LTBP2 a potential therapeutic target 6. Additionally, LTBP2 is upregulated in activated hepatic stellate cells during liver fibrosis 2 and identified as a biomarker for dementia prediction in plasma proteomics 7.

Sources cited
1
LTBP2 mutations associated with Marfan-related syndromes; LTBP2 involved in TGF-Ξ² signaling pathway and connective tissue organization
PMID: 34220303
2
LTBP2 upregulated in activated hepatic stellate cells in MASH; LTBP2 identified as core gene driving HSC activation with concurrent upregulation and accessible chromatin
PMID: 39522884
3
LTBP2 identified as proline-rich profibrotic gene translationally regulated by EPRS during cardiac fibrosis
PMID: 32611237
4
Cancer-associated fibroblast-secreted LTBP2 promotes metastasis and chemoresistance in esophageal cancer via integrin Ξ±6Ξ²4-Src signaling
PMID: 40245188
5
LTBP2 plays important role in modulating collagen biosynthesis, ECM organization, and adhesion pathways in colorectal cancer liver metastases; LTBP2 expression associated with survival outcomes
PMID: 36438498
6
LTBP2 mutations identified in Marfan syndrome patients with ocular manifestations; four pathogenic/likely pathogenic LTBP2 mutations detected contributing to phenotypic diversity
PMID: 38958168
7
LTBP2 associated with incident all-cause dementia, Alzheimer's disease, and vascular dementia in plasma proteomic analysis; LTBP2 highly specific for dementia prediction
PMID: 38347190
Disease Associationsβ“˜23
congenital glaucomaOpen Targets
0.75Strong
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaOpen Targets
0.73Strong
Weill-Marchesani syndrome 3Open Targets
0.64Moderate
open-angle glaucomaOpen Targets
0.62Moderate
MicrospherophakiaOpen Targets
0.60Moderate
primary congenital glaucomaOpen Targets
0.51Moderate
glaucomaOpen Targets
0.51Moderate
Weill-Marchesani syndromeOpen Targets
0.50Moderate
Juvenile glaucomaOpen Targets
0.43Moderate
mitral valve prolapseOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.40Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
glaucoma secondary to spherophakia/ectopia lentis and megalocorneaOpen Targets
0.37Weak
Marfan syndromeOpen Targets
0.36Weak
response to surgeryOpen Targets
0.35Weak
exfoliation syndromeOpen Targets
0.35Weak
Abnormality of refractionOpen Targets
0.32Weak
dermatomycosisOpen Targets
0.31Weak
dermatophytosisOpen Targets
0.30Weak
hemolytic anemiaOpen Targets
0.30Weak
Glaucoma 3, primary congenital, DUniProt
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaUniProt
Weill-Marchesani syndrome 3UniProt
Pathogenic Variants77
NM_000428.3(LTBP2):c.3652+1G>ALikely pathogenic
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma|not provided
β˜…β˜…β˜†β˜†2025
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter)Pathogenic
Glaucoma 3, primary congenital, D|Microspherophakia|not provided|Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_000428.3(LTBP2):c.4597C>T (p.Gln1533Ter)Pathogenic
Glaucoma of childhood|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1533
NM_000428.3(LTBP2):c.2789-2A>TLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_000428.3(LTBP2):c.2659+2T>CLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_000428.3(LTBP2):c.4313G>A (p.Cys1438Tyr)Likely pathogenic
Microspherophakia|Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma|Glaucoma 3, primary congenital, D
β˜…β˜…β˜†β˜†2024β†’ Residue 1438
NM_000428.3(LTBP2):c.3638dup (p.Thr1214fs)Pathogenic
not provided|Glaucoma 3, primary infantile, B;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3
β˜…β˜…β˜†β˜†2024β†’ Residue 1214
NM_000428.3(LTBP2):c.2389-2A>GLikely pathogenic
not provided|Glaucoma 3, primary infantile, B;Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
β˜…β˜…β˜†β˜†2022
NM_000428.3(LTBP2):c.2628C>G (p.Tyr876Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 876
NM_000428.3(LTBP2):c.2908+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_000428.3(LTBP2):c.1251G>A (p.Trp417Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 417
NM_000428.3(LTBP2):c.4034-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter)Pathogenic
Marfan syndrome|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 548
NM_000428.3(LTBP2):c.1504dup (p.Leu502fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 502
NM_000428.3(LTBP2):c.527del (p.Gly176fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 176
NM_000428.3(LTBP2):c.4767dup (p.Val1590fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1590
NM_000428.3(LTBP2):c.112del (p.Asp38fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 38
NM_000428.3(LTBP2):c.2258del (p.Pro753fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 753
NM_000428.3(LTBP2):c.4964_4965del (p.Gly1654_Tyr1655insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1654
NM_000428.3(LTBP2):c.442_443del (p.Pro148fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 148
View on ClinVar β†—
Related Genes
FBLN5Protein interaction100%TGFB3Protein interaction99%ELNProtein interaction96%FBN1Protein interaction96%LTBP1Protein interaction96%TGFB1Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Heart
88%
Ovary
48%
Brain
3%
Liver
3%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LTBP2FBLN5TGFB3ELNFBN1LTBP1TGFB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14767
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.43–0.59]
RankingsWhere LTBP2 stands among ~20K protein-coding genes
  • #4,948of 20,598
    Most Researched97 Β· top quartile
  • #961of 5,498
    Most Pathogenic Variants77 Β· top quartile
  • #4,053of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedLTBP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Plasma proteomic profiles predict future dementia in healthy adults.
PMID: 38347190
Nat Aging Β· 2024
1.00
2
The Molecular Genetics of Marfan Syndrome.
PMID: 34220303
Int J Med Sci Β· 2021
0.90
3
Multi-modal analysis of human hepatic stellate cells identifies novel therapeutic targets for metabolic dysfunction-associated steatotic liver disease.
PMID: 39522884
J Hepatol Β· 2025
0.80
4
Targeting LTBP2 Derived from Cancer-Associated Fibroblasts Sensitizes Esophageal Squamous Cell Carcinoma to Chemotherapy.
PMID: 40245188
Cancer Res Β· 2025
0.70
5
Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.
PMID: 32611237
Circ Res Β· 2020
0.60