FBLN7 (fibulin 7)

2014-11-01 Affiliation

Identity

HGNC

FBLN7

LOCATION

2q13

LOCUSID

129804

ALIAS

TM14

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144152	ENST00000272559	Q8IY13
ENSG00000144152	ENST00000331203	Q53RD9
ENSG00000144152	ENST00000409450	Q53RD9
ENSG00000144152	ENST00000409667	Q53RD9
ENSG00000144152	ENST00000409903	B8ZZC1
ENSG00000144152	ENST00000441565	H7BZ65

Expression (GTEx)

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 ID	Year	Title	Citations
24694933	2014	Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.	11
24480309	2014	A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture.	6
30924128	2019	Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1.	5
19229767	2009	Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland.	3
30958601	2019	Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression.	1

Citation

Dessen P

FBLN7 (fibulin 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63309/fbln7