LTBP2 (latent transforming growth factor beta binding protein 2)

2003-12-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
C14orf141,GLC3D,LTBP3,MSPKA,MSTP031,WMS3
FUSION GENES

Other Information

Locus ID:

NCBI: 4053
MIM: 602091
HGNC: 6715
Ensembl: ENSG00000119681

Variants:

dbSNP: 4053
ClinVar: 4053
TCGA: ENSG00000119681
COSMIC: LTBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119681ENST00000261978Q14767
ENSG00000119681ENST00000553939G3V511
ENSG00000119681ENST00000556206H0YJ20
ENSG00000119681ENST00000556690G3V3X5

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387723532024Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.0
387723532024Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.0
378640772023Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.0
382224562023Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.0
378640772023Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.0
382224562023Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.0
352351252022CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.2
355120782022The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.1
359682442022LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.3
352351252022CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.2
355120782022The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.1
359682442022LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.3
344811232021Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.5
344811232021Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.5
321658232020Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.10

Citation

Dessen P

LTBP2 (latent transforming growth factor beta binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41213/teaching-explorer/css/lib/bootstrap.min.css