LTBP4 (latent transforming growth factor beta binding protein 4)

2003-12-01  

Identity

HGNC
LTBP4
LOCATION
19q13.2
LOCUSID
8425
ALIAS
ARCL1C,LTBP-4,LTBP4L,LTBP4S
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385476422024Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.1
385476422024Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.1
357088972023Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.2
372321632023LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.3
357088972023Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.2
372321632023LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.3
349588662022Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.3
360112962022LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.2
365247972022Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.0
349588662022Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.3
360112962022LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.2
365247972022Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.0
346458132021LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.7
346458132021LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.7
326588402020Serum latent transforming growth factor-β binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.3

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/case-report-explorer/