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Browse FBN2

Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Secreted, extracellular space, extracellular matrix.
Domain PF12662 Complement Clr-like EGF-like
PF07645 Calcium-binding EGF domain
PF12661 Human growth factor-like EGF
PF00683 TB domain
Function

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.

> Gene Ontology
 
Biological Process GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0001654 eye development
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007423 sensory organ development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030278 regulation of ossification
GO:0030282 bone mineralization
GO:0030326 embryonic limb morphogenesis
GO:0030500 regulation of bone mineralization
GO:0030501 positive regulation of bone mineralization
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0031214 biomineral tissue development
GO:0035107 appendage morphogenesis
GO:0035108 limb morphogenesis
GO:0035113 embryonic appendage morphogenesis
GO:0035581 sequestering of extracellular ligand from receptor
GO:0035583 sequestering of TGFbeta in extracellular matrix
GO:0043010 camera-type eye development
GO:0043062 extracellular structure organization
GO:0045185 maintenance of protein location
GO:0045667 regulation of osteoblast differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045778 positive regulation of ossification
GO:0048048 embryonic eye morphogenesis
GO:0048562 embryonic organ morphogenesis
GO:0048568 embryonic organ development
GO:0048592 eye morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048736 appendage development
GO:0051235 maintenance of location
GO:0060173 limb development
GO:0060343 trabecula formation
GO:0060346 bone trabecula formation
GO:0061383 trabecula morphogenesis
GO:0061430 bone trabecula morphogenesis
GO:0070167 regulation of biomineral tissue development
GO:0070169 positive regulation of biomineral tissue development
GO:0071559 response to transforming growth factor beta
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071692 protein localization to extracellular region
GO:0071694 maintenance of protein location in extracellular region
GO:0090092 regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0090101 negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0090287 regulation of cellular response to growth factor stimulus
GO:0090288 negative regulation of cellular response to growth factor stimulus
GO:0090596 sensory organ morphogenesis
GO:1900115 extracellular regulation of signal transduction
GO:1900116 extracellular negative regulation of signal transduction
GO:1903844 regulation of cellular response to transforming growth factor beta stimulus
GO:1903845 negative regulation of cellular response to transforming growth factor beta stimulus
Molecular Function GO:0005201 extracellular matrix structural constituent
GO:0030023 extracellular matrix constituent conferring elasticity
GO:0097493 structural molecule activity conferring elasticity
Cellular Component GO:0001527 microfibril
GO:0005578 proteinaceous extracellular matrix
GO:0043205 fibril
GO:0044420 extracellular matrix component
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-1566948: Elastic fibre formation
R-HSA-1474244: Extracellular matrix organization
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between FBN2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of FBN2 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of FBN2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-1.3680.00477
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-1.5980.0518
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-1.2030.091
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.1210.81
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.5230.771
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.9280.696
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.8830.0966
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.020.984
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11121.8680.0726
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.4460.352
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.9190.15
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.450.13
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of FBN2 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 141714.317.6-3.31
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1032033.3-13.31
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 414014.3-14.31
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277318.59.68.90.297
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275918.511.96.60.505
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211714.311.82.51
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131115.418.2-2.81
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916018.8-18.80.28
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59033.3-33.30.258
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 382710.57.43.11
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 221313.67.75.91
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.27.1-0.91
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 111307.7-7.71
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 51208.3-8.31
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of FBN2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of FBN2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by FBN2.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of FBN2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of FBN2 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between FBN2 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolFBN2
Namefibrillin 2
Aliases DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location5q23-q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting FBN2 collected from DrugBank database.
> Drugs from DrugBank database
 

  Details on drugs targeting FBN2.
ID Name Drug Type Targets #Targets
DB11093Calcium CitrateSmall MoleculeCADPS, CADPS2, CALB2, CALR, CALR3, CANX, CAPS, CASQ1, CASQ2, CASR, ......29
DB11348Calcium PhosphateSmall MoleculeCADPS, CADPS2, CALB2, CALR, CALR3, CANX, CAPS, CASQ1, CASQ2, CASR, ......29