LTBP3 (latent transforming growth factor beta binding protein 3)

2003-12-01  

Identity

HGNC
LTBP3
LOCATION
11q13.1
LOCUSID
4054
ALIAS
DASS,GPHYSD3,LTBP-3,LTBP2,STHAG6,pp6425
FUSION GENES
Show Gene Fusions

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
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

References

Pubmed IDYearTitleCitations
373944362023[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].0
373944362023[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].0
353528262022Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.3
353528262022Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.3
344811232021Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.5
349061922021Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.0
344811232021Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.5
349061922021Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.0
324324082020Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.4
324525142020Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population.5
324324082020Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.4
324525142020Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population.5
308871452019Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.14
308871452019Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.14
293484572018LTBP3 promotes early metastatic events during cancer cell dissemination.12

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/gene-fusions/css/template-nav.css