FBLN7 (fibulin 7)

2014-11-01  

Identity

HGNC
FBLN7
LOCATION
2q13
LOCUSID
129804
ALIAS
TM14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129804
MIM: 611551
HGNC: 26740
Ensembl: ENSG00000144152

Variants:

dbSNP: 129804
ClinVar: 129804
TCGA: ENSG00000144152
COSMIC: FBLN7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144152ENST00000272559Q8IY13
ENSG00000144152ENST00000331203Q53RD9
ENSG00000144152ENST00000409450Q53RD9
ENSG00000144152ENST00000409667Q53RD9
ENSG00000144152ENST00000409903B8ZZC1
ENSG00000144152ENST00000441565H7BZ65

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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

References

Pubmed IDYearTitleCitations
363704442023Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.0
373443482023Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.3
363704442023Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.0
373443482023Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.3
327833592020Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.0
327833592020Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.0
309241282019Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1.11
309586012019Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression.2
309241282019Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1.11
309586012019Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression.2
244803092014A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture.10
246949332014Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.25
244803092014A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture.10
246949332014Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.25
192297672009Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland.5

Citation

Dessen P

FBLN7 (fibulin 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63309/tumors-explorer/meetings/