FBN2

Gene Information

Official Symbol: FBN2
Official Name: fibrillin 2
Aliases and Previous Symbols: N/A
Entrez ID: 2201
UniProt: P35556
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008].
UniProt Summary: Fibrillin-2: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. {ECO:0000250|UniProtKB:Q61555}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 9429
Expression level (log2 read counts): -3.28

Expression Distribution

EGF CA
cEGF
EGF 3
TB

sequestering of TGFbeta in extracellular matrix
maintenance of protein location in extracellular region
bone trabecula formation
extracellular matrix constituent conferring elasticity
sequestering of extracellular ligand from receptor
microfibril
extracellular regulation of signal transduction
bone trabecula morphogenesis
extracellular negative regulation of signal transduction
trabecula formation
embryonic eye morphogenesis
positive regulation of bone mineralization
trabecula morphogenesis
positive regulation of biomineralization
positive regulation of biomineral tissue development
positive regulation of osteoblast differentiation
negative regulation of transforming growth factor beta receptor signaling pathway
regulation of bone mineralization
negative regulation of cellular response to transforming growth factor beta stimulus
positive regulation of ossification
regulation of biomineral tissue development
regulation of biomineralization
maintenance of protein location
regulation of osteoblast differentiation
regulation of transforming growth factor beta receptor signaling pathway
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
regulation of cellular response to transforming growth factor beta stimulus
embryonic appendage morphogenesis
embryonic limb morphogenesis
extracellular matrix structural constituent
eye morphogenesis
negative regulation of cellular response to growth factor stimulus
appendage morphogenesis
limb morphogenesis
maintenance of location
protein localization to extracellular region
limb development
appendage development
regulation of ossification
extracellular matrix