Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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)

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
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 : Fast-db (Paris)GSHG0025036
Alternative Splicing GalleryENSG00000138829
Gene ExpressionFBN2 [ NCBI-GEO ]     FBN2 [ SEEK ]   FBN2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35556 (Uniprot)
NextProtP35556  [Medical]
With graphics : InterProP35556
Splice isoforms : SwissVarP35556 (Swissvar)
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    EG-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN/EtMIC4    Growth_fac_rcpt_N_dom    TB_dom   
Related proteins : CluSTrP35556
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)P35556
Human Protein AtlasENSG00000138829
Peptide AtlasP35556
HPRD00416
IPIIPI00019439   IPI00930504   IPI00966506   IPI00969129   IPI00965227   
Protein Interaction databases
DIP (DOE-UCLA)P35556
IntAct (EBI)P35556
FunCoupENSG00000138829
BioGRIDFBN2
IntegromeDBFBN2
STRING (EMBL)FBN2
Ontologies - Pathways
QuickGOP35556
Ontology : AmiGOmicrofibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix disassembly  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  extracellular matrix  sequestering of TGFbeta in extracellular matrix  positive regulation of osteoblast differentiation  bone trabecula formation  
Ontology : EGO-EBImicrofibril  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix disassembly  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  extracellular matrix  sequestering of TGFbeta in extracellular matrix  positive regulation of osteoblast differentiation  bone trabecula formation  
Protein Interaction DatabaseFBN2
DoCM (Curated mutations)FBN2
Wikipedia pathwaysFBN2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerFBN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN2
dbVarFBN2
ClinVarFBN2
1000_GenomesFBN2 
Exome Variant ServerFBN2
SNP (GeneSNP Utah)FBN2
SNP : HGBaseFBN2
Genetic variants : HAPMAPFBN2
Genomic Variants (DGV)FBN2 [DGVbeta]
Mutations
ICGC Data PortalFBN2 
TCGA Data PortalFBN2 
Tumor PortalFBN2
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:127593601-127873735
CONAN: Copy Number AnalysisFBN2 
Mutations and Diseases : HGMDFBN2
OMIM121050    612570    616118   
MedgenFBN2
NextProtP35556 [Medical]
GENETestsFBN2
Disease Genetic AssociationFBN2
Huge Navigator FBN2 [HugePedia]  FBN2 [HugeCancerGEM]
snp3D : Map Gene to Disease2201
DGIdb (Drug Gene Interaction db)FBN2
General knowledge
Homologs : HomoloGeneFBN2
Homology/Alignments : Family Browser (UCSC)FBN2
Phylogenetic Trees/Animal Genes : TreeFamFBN2
Chemical/Protein Interactions : CTD2201
Chemical/Pharm GKB GenePA28017
Clinical trialFBN2
Cancer Resource (Charite)ENSG00000138829
Other databases
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
CoreMineFBN2
GoPubMedFBN2
iHOPFBN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:25:10 CEST 2015

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