Identity
HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
DASS,GPHYSD3,LTBP-3,LTBP2,STHAG6,pp6425
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4054
MIM: 602090
HGNC: 6716
Ensembl: ENSG00000168056
Variants:
dbSNP: 4054
ClinVar: 4054
TCGA: ENSG00000168056
COSMIC: LTBP3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Elastic fibre formation | REACTOME | R-HSA-1566948 |
| Molecules associated with elastic fibres | REACTOME | R-HSA-2129379 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37394436 | 2023 | [IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]. | 0 |
| 37394436 | 2023 | [IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]. | 0 |
| 35352826 | 2022 | Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome. | 3 |
| 35352826 | 2022 | Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome. | 3 |
| 34481123 | 2021 | Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2. | 5 |
| 34906192 | 2021 | Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections. | 0 |
| 34481123 | 2021 | Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2. | 5 |
| 34906192 | 2021 | Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections. | 0 |
| 32432408 | 2020 | Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India. | 4 |
| 32452514 | 2020 | Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population. | 5 |
| 32432408 | 2020 | Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India. | 4 |
| 32452514 | 2020 | Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population. | 5 |
| 30887145 | 2019 | Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. | 14 |
| 30887145 | 2019 | Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. | 14 |
| 29348457 | 2018 | LTBP3 promotes early metastatic events during cancer cell dissemination. | 12 |
Citation
Dessen P
LTBP3 (latent transforming growth factor beta binding protein 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41214/ltbp3-(latent-transforming-growth-factor-beta-binding-protein-3)
