LTBP2 (latent transforming growth factor beta binding protein 2)

2003-12-01  

Identity

HGNC
LTBP2
LOCATION
14q24.3
LOCUSID
4053
ALIAS
C14orf141,GLC3D,LTBP3,MSPKA,MSTP031,WMS3
FUSION GENES
Show Gene Fusions

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
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
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
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
193617792009Null mutations in LTBP2 cause primary congenital glaucoma.101
196567772009Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.58
175816312007Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly.52
172930992007LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.45
225393402012LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.33
201797382010LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.32
249086662014Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.28
127169022003Latent transforming growth factor-beta-binding protein 2 is an adhesion protein for melanoma cells.26
206173412010A homozygous mutation in LTBP2 causes isolated microspherophakia.25
206173412010A homozygous mutation in LTBP2 causes isolated microspherophakia.25

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/ltbp2