LTBP2 Chromosome 14
Latent transforming growth factor beta binding protein 2
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What This Gene Does
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]
Gene Info
Gene Group
Latent transforming growth factor beta binding proteins
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119681
Associated Conditions (22)
Glaucoma 3
primary congenital
D
Weill-Marchesani syndrome
Weill-Marchesani syndrome 3
Microspherophakia and/or megalocornea
with ectopia lentis and with or without secondary glaucoma
LTBP2-related disorder
Inborn genetic diseases
Pseudoexfoliation glaucoma
Primary open angle glaucoma
primary infantile
B
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Thymoma
Familial cancer of breast
Microspherophakia
Glaucoma 3A
Marfan syndrome
+2 more conditions
Key Variants
RS1004486722
Conflicting classifications of pathogenicity
Glaucoma 3, primary congenital, D
Health Risk
RS111342797
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Glaucoma 3, primary congenital
Health Risk
RS113219139
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Glaucoma 3, primary congenital
Health Risk
RS117800773
Conflicting classifications of pathogenicity
Glaucoma 3, primary congenital, D
Health Risk
RS1194291909
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Glaucoma 3, primary congenital
Health Risk
RS1206472219
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137854861
Conflicting classifications of pathogenicity
Pseudoexfoliation glaucoma, Weill-Marchesani syndrome, Weill-Marchesani syndrome 3
Health Risk
RS137854863
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Health Risk
RS137854886
Conflicting classifications of pathogenicity
Pseudoexfoliation glaucoma, Weill-Marchesani syndrome, Glaucoma 3
Health Risk
RS137871407
Conflicting classifications of pathogenicity
Glaucoma 3, primary congenital, D
Health Risk
RS138194436
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Glaucoma 3, primary congenital
Health Risk
RS139018077
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Glaucoma 3, primary congenital
Health Risk
All Variants (155)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201591982 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS201661499 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS201787294 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS201838800 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS368269193 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS369856411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371160060 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371940681 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS372209109 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS372981316 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS373253770 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS373693540 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374130664 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS375314974 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375324850 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary infantile, B |
| RS376663839 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS45468895 | Health Risk | Conflicting classifications of pathogenicity | Microspherophakia, Glaucoma 3, primary congenital |
| RS529229239 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS537908823 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS546041607 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS551478195 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS553562104 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS554002446 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS554570575 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 3, Microspherophakia, Glaucoma 3 |
| RS562333691 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS563097395 | Health Risk | Conflicting classifications of pathogenicity | LTBP2-related disorder, LTBP2-related disorder |
| RS61738013 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS61738022 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS61738024 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS74384554 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS746212575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS74758312 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS748744542 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS750045564 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS753628301 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS756729691 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS757559806 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS757843416 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS757918162 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS759632617 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS76172717 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS764652187 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, D |
| RS767484358 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS773927709 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS775155970 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS779279335 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS786205624 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 3, Weill-Marchesani syndrome 3 |
| RS80088294 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS886050756 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Glaucoma 3, primary congenital |
| RS1173459626 | Health Risk | Likely pathogenic | — |