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FBN2 (fibrillin 2)

Identity

Other namesCCA
DA9
EOMD
HGNC (Hugo) FBN2
LocusID (NCBI) 2201
Atlas_Id 50986
Location 5q23.3
Location_base_pair Starts at 127593601 and ends at 127873735 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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]  chr5:127593601-127873735 [Contig_View]  FBN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138829 [Gene_View]  chr5:127593601-127873735 [Contig_View]  FBN2 [Vega]
ICGC DataPortalENSG00000138829
TCGA cBioPortalFBN2
AceView (NCBI)FBN2
Genatlas (Paris)FBN2
WikiGenes2201
SOURCE (Princeton)FBN2
Genomic and cartography
GoldenPath hg19 (UCSC)FBN2  -     chr5:127593601-127873735 -  5q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FBN2  -     5q23.3   [Description]    (hg38-Dec_2013)
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)NC_000005 NC_018916 NG_008750 NT_034772 NW_004929323
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2201
GTEX Portal (Tissue expression)FBN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35556 (Uniprot)
NextProtP35556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35556
Splice isoforms : SwissVarP35556 (Swissvar)
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)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
DMDM Disease mutations2201
Blocks (Seattle)FBN2
SuperfamilyP35556
Human Protein AtlasENSG00000138829
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  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  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 Network
Atlas of Cancer Signalling NetworkFBN2
Wikipedia pathwaysFBN2
Orthology - Evolution
OrthoDB2201
GeneTree (enSembl)ENSG00000138829
Phylogenetic Trees/Animal Genes : TreeFamFBN2
Homologs : HomoloGeneFBN2
Homology/Alignments : Family Browser (UCSC)FBN2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFBN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN2
dbVarFBN2
ClinVarFBN2
1000_GenomesFBN2 
Exome Variant ServerFBN2
ExAC (Exome Aggregation Consortium)FBN2 (select the gene name)
Genetic variants : HAPMAP2201
Genomic Variants (DGV)FBN2 [DGVbeta]
Mutations
ICGC Data PortalFBN2 
TCGA Data PortalFBN2 
Broad Tumor PortalFBN2
OASIS PortalFBN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBN2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:127593601-127873735  ENSG00000138829
CONAN: Copy Number AnalysisFBN2 
Mutations and Diseases : HGMDFBN2
OMIM121050    612570    616118   
MedgenFBN2
Genetic Testing Registry FBN2
NextProtP35556 [Medical]
TSGene2201
GENETestsFBN2
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
PubMed60 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

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indexed on : Sat May 28 11:02:27 CEST 2016

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