FBLIM1 (filamin binding LIM protein 1)

2008-01-01  

Identity

HGNC
FBLIM1
LOCATION
1p36.21
LOCUSID
54751
ALIAS
CAL,FBLP-1,FBLP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54751
MIM: 607747
HGNC: 24686
Ensembl: ENSG00000162458

Variants:

dbSNP: 54751
ClinVar: 54751
TCGA: ENSG00000162458
COSMIC: FBLIM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162458ENST00000332305Q8WUP2
ENSG00000162458ENST00000375766Q8WUP2
ENSG00000162458ENST00000375771Q8WUP2
ENSG00000162458ENST00000430076Q5VVD3
ENSG00000162458ENST00000431771E7EPI5
ENSG00000162458ENST00000441801Q8WUP2
ENSG00000162458ENST00000483633E7EN81
ENSG00000162458ENST00000496928D6R9V9
ENSG00000162458ENST00000502638D6R9I4
ENSG00000162458ENST00000502739E7EWE8
ENSG00000162458ENST00000508310D6RA19
ENSG00000162458ENST00000510393D6RAI6
ENSG00000162458ENST00000510929D6RAI8

Expression (GTEx)

0
100
200
300
400
500
600
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
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-extracellular matrix interactionsREACTOMER-HSA-446353

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
323979962020Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.5
326507892020High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).4
323979962020Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.5
326507892020High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).4
291149252018Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders.5
300538672018circFBLIM1 act as a ceRNA to promote hepatocellular cancer progression by sponging miR-346.98
301296782018FBLIM1 enhances oral cancer malignancy via modulation of the epidermal growth factor receptor pathway.10
291149252018Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders.5
300538672018circFBLIM1 act as a ceRNA to promote hepatocellular cancer progression by sponging miR-346.98
301296782018FBLIM1 enhances oral cancer malignancy via modulation of the epidermal growth factor receptor pathway.10
283014682017Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).35
292031202017Migfilin promotes migration and invasion in glioma by driving EGFR and MMP-2 signalings: A positive feedback loop regulation.4
283014682017Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).35
292031202017Migfilin promotes migration and invasion in glioma by driving EGFR and MMP-2 signalings: A positive feedback loop regulation.4
230991042013Migfilin, α-parvin and β-parvin are differentially expressed in ovarian serous carcinoma effusions, primary tumors and solid metastases.2

Citation

Dessen P

FBLIM1 (filamin binding LIM protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49967/css/case-report-explorer/deep-insight-explorer/