LTBP3 (latent transforming growth factor beta binding protein 3)

2003-12-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
DASS,GPHYSD3,LTBP-3,LTBP2,STHAG6,pp6425
FUSION GENES

Other Information

Locus ID:

NCBI: 4054
MIM: 602090
HGNC: 6716
Ensembl: ENSG00000168056

Variants:

dbSNP: 4054
ClinVar: 4054
TCGA: ENSG00000168056
COSMIC: LTBP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168056ENST00000301873Q9NS15
ENSG00000168056ENST00000322147Q9NS15
ENSG00000168056ENST00000526825H0YE75
ENSG00000168056ENST00000526927H0YC99
ENSG00000168056ENST00000527339H0YCQ2
ENSG00000168056ENST00000528516E9PRF2
ENSG00000168056ENST00000529189E9PQR0
ENSG00000168056ENST00000529371E9PR75
ENSG00000168056ENST00000530426H0YCX6
ENSG00000168056ENST00000530785E9PR84
ENSG00000168056ENST00000530866E9PKW1
ENSG00000168056ENST00000532661E9PPT7
ENSG00000168056ENST00000532932E9PJR2

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379

References

Pubmed IDYearTitleCitations
251875172014Activation of LTBP3 gene by a long noncoding RNA (lncRNA) MALAT1 transcript in mesenchymal stem cells from multiple myeloma.30
193448742009Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.20
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
161573292005Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts.19
121540762002Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta.18
186721062008Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells.18
198971942010Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm.11
256696572015Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.10
296250252018LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.10
205875462010Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.6

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