Atlas of Genetics and Cytogenetics in Oncology and Haematology


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FBN2 (fibrillin 2)

Identity

Alias_namesCCA
congenital contractural arachnodactyly
Alias_symbol (synonym)DA9
Other aliasEOMD
HGNC (Hugo) FBN2
LocusID (NCBI) 2201
Atlas_Id 50986
Location 5q23.3  [Link to chromosome band 5q23]
Location_base_pair Starts at 128257909 and ends at 128538042 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FBN2 (5q23.3) / NIPAL1 (4p12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FBN2   3604
Cards
Entrez_Gene (NCBI)FBN2  2201  fibrillin 2
AliasesCCA; DA9; EOMD
GeneCards (Weizmann)FBN2
Ensembl hg19 (Hinxton)ENSG00000138829 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138829 [Gene_View]  chr5:128257909-128538042 [Contig_View]  FBN2 [Vega]
ICGC DataPortalENSG00000138829
TCGA cBioPortalFBN2
AceView (NCBI)FBN2
Genatlas (Paris)FBN2
WikiGenes2201
SOURCE (Princeton)FBN2
Genetics Home Reference (NIH)FBN2
Genomic and cartography
GoldenPath hg38 (UCSC)FBN2  -     chr5:128257909-128538042 -  5q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FBN2  -     5q23.3   [Description]    (hg19-Feb_2009)
EnsemblFBN2 - 5q23.3 [CytoView hg19]  FBN2 - 5q23.3 [CytoView hg38]
Mapping of homologs : NCBIFBN2 [Mapview hg19]  FBN2 [Mapview hg38]
OMIM121050   612570   616118   
Gene and transcription
Genbank (Entrez)AB209735 AF193046 AK300440 BC040623 BF368029
RefSeq transcript (Entrez)NM_001999
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FBN2
Cluster EST : UnigeneHs.519294 [ NCBI ]
CGAP (NCI)Hs.519294
Alternative Splicing GalleryENSG00000138829
Gene ExpressionFBN2 [ NCBI-GEO ]   FBN2 [ EBI - ARRAY_EXPRESS ]   FBN2 [ SEEK ]   FBN2 [ MEM ]
Gene Expression Viewer (FireBrowse)FBN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2201
GTEX Portal (Tissue expression)FBN2
Human Protein AtlasENSG00000138829-FBN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35556   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35556
Splice isoforms : SwissVarP35556
PhosPhoSitePlusP35556
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)cEGF    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN    Growth_fac_rcpt_    TB_dom   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    hEGF (PF12661)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam12661    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)FBN2
DMDM Disease mutations2201
Blocks (Seattle)FBN2
SuperfamilyP35556
Human Protein Atlas [tissue]ENSG00000138829-FBN2 [tissue]
Peptide AtlasP35556
HPRD00416
IPIIPI00019439   IPI00930504   IPI00966506   IPI00969129   IPI00965227   
Protein Interaction databases
DIP (DOE-UCLA)P35556
IntAct (EBI)P35556
FunCoupENSG00000138829
BioGRIDFBN2
STRING (EMBL)FBN2
ZODIACFBN2
Ontologies - Pathways
QuickGOP35556
Ontology : AmiGOmicrofibril  microfibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  extracellular matrix  sequestering of TGFbeta in extracellular matrix  camera-type eye development  positive regulation of osteoblast differentiation  embryonic eye morphogenesis  bone trabecula formation  regulation of cellular response to growth factor stimulus  
Ontology : EGO-EBImicrofibril  microfibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  extracellular matrix  sequestering of TGFbeta in extracellular matrix  camera-type eye development  positive regulation of osteoblast differentiation  embryonic eye morphogenesis  bone trabecula formation  regulation of cellular response to growth factor stimulus  
NDEx NetworkFBN2
Atlas of Cancer Signalling NetworkFBN2
Wikipedia pathwaysFBN2
Orthology - Evolution
OrthoDB2201
GeneTree (enSembl)ENSG00000138829
Phylogenetic Trees/Animal Genes : TreeFamFBN2
HOVERGENP35556
HOGENOMP35556
Homologs : HomoloGeneFBN2
Homology/Alignments : Family Browser (UCSC)FBN2
Gene fusions - Rearrangements
Tumor Fusion PortalFBN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN2
dbVarFBN2
ClinVarFBN2
1000_GenomesFBN2 
Exome Variant ServerFBN2
ExAC (Exome Aggregation Consortium)ENSG00000138829
GNOMAD BrowserENSG00000138829
Genetic variants : HAPMAP2201
Genomic Variants (DGV)FBN2 [DGVbeta]
DECIPHERFBN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFBN2 
Mutations
ICGC Data PortalFBN2 
TCGA Data PortalFBN2 
Broad Tumor PortalFBN2
OASIS PortalFBN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFBN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FBN2
DgiDB (Drug Gene Interaction Database)FBN2
DoCM (Curated mutations)FBN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FBN2 (select a term)
intoGenFBN2
Cancer3DFBN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121050    612570    616118   
Orphanet1481   
DisGeNETFBN2
MedgenFBN2
Genetic Testing Registry FBN2
NextProtP35556 [Medical]
TSGene2201
GENETestsFBN2
Target ValidationFBN2
Huge Navigator FBN2 [HugePedia]
snp3D : Map Gene to Disease2201
BioCentury BCIQFBN2
ClinGenFBN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2201
Chemical/Pharm GKB GenePA28017
Clinical trialFBN2
Miscellaneous
canSAR (ICR)FBN2 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFBN2
EVEXFBN2
GoPubMedFBN2
iHOPFBN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:12:55 CET 2017

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