FBN2 (fibrillin 2)

2009-06-01  

Identity

HGNC
FBN2
LOCATION
5q23.3
LOCUSID
2201
ALIAS
CCA,DA9,EOMD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2201
MIM: 612570
HGNC: 3604
Ensembl: ENSG00000138829

Variants:

dbSNP: 2201
ClinVar: 2201
TCGA: ENSG00000138829
COSMIC: FBN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138829ENST00000262464P35556
ENSG00000138829ENST00000502468E9PHW4
ENSG00000138829ENST00000507835D6REJ2
ENSG00000138829ENST00000508053P35556
ENSG00000138829ENST00000508989D6RJI3

Expression (GTEx)

0
50
100
150
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

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
385348772024Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.0
386024242024FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.0
387434902024Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.0
385348772024Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.0
386024242024FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.0
387434902024Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.0
371402492023Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?1
373374042023A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.2
371402492023Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?1
373374042023A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.2
351637442022FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.2
354199022022The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.10
358043652022Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.2
351637442022FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.2
354199022022The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.10

Citation

Dessen P

FBN2 (fibrillin 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50986