Atlas of Genetics and Cytogenetics in Oncology and Haematology


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FBN2 (fibrillin 2)

Identity

Other namesCCA
DA9
HGNC (Hugo) FBN2
LocusID (NCBI) 2201
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 (Hinxton)ENSG00000138829 [Gene_View]  chr5:127593601-127873735 [Contig_View]  FBN2 [Vega]
ICGC DataPortalENSG00000138829
AceView (NCBI)FBN2
Genatlas (Paris)FBN2
WikiGenes2201
SOURCE (Princeton)NM_001999
Genomic and cartography
GoldenPath (UCSC)FBN2  -  5q23.3   chr5:127593601-127873735 -  5q23.3   [Description]    (hg19-Feb_2009)
EnsemblFBN2 - 5q23.3 [CytoView]
Mapping of homologs : NCBIFBN2 [Mapview]
OMIM121050   612570   
Gene and transcription
Genbank (Entrez)AB209735 AF193046 AK300440 BC040623 BF368029
RefSeq transcript (Entrez)NM_001999
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_008750 NT_034772 NW_001838952 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 ]
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  extracellular region  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix disassembly  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  sequestering of TGFbeta in extracellular matrix  positive regulation of osteoblast differentiation  bone trabecula formation  
Ontology : EGO-EBImicrofibril  extracellular matrix structural constituent  calcium ion binding  extracellular region  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix disassembly  extracellular matrix organization  embryonic limb morphogenesis  positive regulation of bone mineralization  sequestering of TGFbeta in extracellular matrix  positive regulation of osteoblast differentiation  bone trabecula formation  
Protein Interaction DatabaseFBN2
Wikipedia pathwaysFBN2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FBN2
SNP (GeneSNP Utah)FBN2
SNP : HGBaseFBN2
Genetic variants : HAPMAPFBN2
1000_GenomesFBN2 
ICGC programENSG00000138829 
CONAN: Copy Number AnalysisFBN2 
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
DECIPHER (Syndromes)5:127593601-127873735
Mutations and Diseases : HGMDFBN2
OMIM121050    612570   
MedgenFBN2
GENETestsFBN2
Disease Genetic AssociationFBN2
Huge Navigator FBN2 [HugePedia]  FBN2 [HugeCancerGEM]
Genomic VariantsFBN2  FBN2 [DGVbeta]
Exome VariantFBN2
dbVarFBN2
ClinVarFBN2
snp3D : Map Gene to Disease2201
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
PubMed52 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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:25:17 CET 2014

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