LTBP4 (latent transforming growth factor beta binding protein 4)

2003-12-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
ARCL1C,LTBP-4,LTBP4L,LTBP4S
FUSION GENES

Other Information

Locus ID:

NCBI: 8425
MIM: 604710
HGNC: 6717
Ensembl: ENSG00000090006

Variants:

dbSNP: 8425
ClinVar: 8425
TCGA: ENSG00000090006
COSMIC: LTBP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090006ENST00000204005A0A0C4DH07
ENSG00000090006ENST00000243562F8WAA0
ENSG00000090006ENST00000308370Q8N2S1
ENSG00000090006ENST00000396819Q8N2S1
ENSG00000090006ENST00000593463M0QXV3
ENSG00000090006ENST00000594537A0A087WWZ7
ENSG00000090006ENST00000597071M0R351
ENSG00000090006ENST00000598166A0A087WXJ2
ENSG00000090006ENST00000599016A0A087WYX7
ENSG00000090006ENST00000599225A0A087WVR1
ENSG00000090006ENST00000599724M0QYE9
ENSG00000090006ENST00000600026A0A087X0A7
ENSG00000090006ENST00000601032M0QZX0
ENSG00000090006ENST00000612121A0A087WVV5
ENSG00000090006ENST00000618486A0A087WXC2
ENSG00000090006ENST00000622457A0A087WUU1

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
272701072016Clonal evolution of glioblastoma under therapy.154
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
234407192013LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.82
164561432006Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.47
198360102009Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.45
256413722015Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.41
185857072008Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion.36
254760052015Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.33
228294272013Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.21
161573292005Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts.19

Citation

Dessen P

LTBP4 (latent transforming growth factor beta binding protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41215/ltbp4