TISIDB

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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 [ TOP ]
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 [ TOP ]
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 [ TOP ]
KEGG	-
Reactome	R-HSA-1566948: Elastic fibre formation R-HSA-1474244: Extracellular matrix organization

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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 [ TOP ]
There is no record.

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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

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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
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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

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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
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-1.368	0.00477
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-1.598	0.0518
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-1.203	0.091
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.121	0.81
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.523	0.771
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.928	0.696
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.883	0.0966
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.02	0.984
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	1.868	0.0726
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.446	0.352
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.919	0.15
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.45	0.13

> Mutation difference between responders and non-responders

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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
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	14.3	17.6	-3.3	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	20	33.3	-13.3	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	14.3	-14.3	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	18.5	9.6	8.9	0.297
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	18.5	11.9	6.6	0.505
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	14.3	11.8	2.5	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	0	12.5	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	15.4	18.2	-2.8	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	18.8	-18.8	0.28
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	33.3	-33.3	0.258
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	10.5	7.4	3.1	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	13.6	7.7	5.9	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	6.2	7.1	-0.9	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	7.7	-7.7	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	8.3	-8.3	1

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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 [ TOP ]

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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 [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-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 [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of FBN2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between FBN2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	FBN2
Name	fibrillin 2
Aliases	DA9; fibrillin 5; CCA; congenital contractural arachnodactyly; EOMD; Fibrillin-2
Chromosomal Location	5q23-q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting FBN2 collected from DrugBank database.

> Drugs from DrugBank database

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Details on drugs targeting FBN2.

ID	Name	Drug Type	Targets	#Targets
DB11093	Calcium Citrate	Small Molecule	CADPS, CADPS2, CALB2, CALR, CALR3, CANX, CAPS, CASQ1, CASQ2, CASR, ......	29
DB11348	Calcium Phosphate	Small Molecule	CADPS, CADPS2, CALB2, CALR, CALR3, CANX, CAPS, CASQ1, CASQ2, CASR, ......	29

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