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BBS2 (Bardet-Biedl syndrome 2)

Identity

Alias_namesBBS
Other alias
HGNC (Hugo) BBS2
LocusID (NCBI) 583
Atlas_Id 60717
Location 16q12.2  [Link to chromosome band 16q12]
Location_base_pair Starts at 56518259 and ends at 56554008 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BBS2 (16q12.2) / ADAT1 (16q23.1)BBS2 (16q12.2) / EFCAB2 (1q44)BBS2 (16q12.2) / SLMAP (3p14.3)

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)BBS2   967
Cards
Entrez_Gene (NCBI)BBS2  583  Bardet-Biedl syndrome 2
AliasesBBS
GeneCards (Weizmann)BBS2
Ensembl hg19 (Hinxton)ENSG00000125124 [Gene_View]  chr16:56518259-56554008 [Contig_View]  BBS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125124 [Gene_View]  chr16:56518259-56554008 [Contig_View]  BBS2 [Vega]
ICGC DataPortalENSG00000125124
TCGA cBioPortalBBS2
AceView (NCBI)BBS2
Genatlas (Paris)BBS2
WikiGenes583
SOURCE (Princeton)BBS2
Genetics Home Reference (NIH)BBS2
Genomic and cartography
GoldenPath hg19 (UCSC)BBS2  -     chr16:56518259-56554008 -  16q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BBS2  -     16q12.2   [Description]    (hg38-Dec_2013)
EnsemblBBS2 - 16q12.2 [CytoView hg19]  BBS2 - 16q12.2 [CytoView hg38]
Mapping of homologs : NCBIBBS2 [Mapview hg19]  BBS2 [Mapview hg38]
OMIM606151   615981   
Gene and transcription
Genbank (Entrez)AB208905 AF342736 AK027635 AK127290 AK289604
RefSeq transcript (Entrez)NM_031885
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009312 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)BBS2
Cluster EST : UnigeneHs.333738 [ NCBI ]
CGAP (NCI)Hs.333738
Alternative Splicing GalleryENSG00000125124
Gene ExpressionBBS2 [ NCBI-GEO ]   BBS2 [ EBI - ARRAY_EXPRESS ]   BBS2 [ SEEK ]   BBS2 [ MEM ]
Gene Expression Viewer (FireBrowse)BBS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)583
GTEX Portal (Tissue expression)BBS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXC9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXC9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXC9
Splice isoforms : SwissVarQ9BXC9
PhosPhoSitePlusQ9BXC9
Domains : Interpro (EBI)Bardet-Biedl_syndrome_2_prot    BBS2_C    BBS2_Mid    BBS2_N    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)BBS2_C (PF14782)    BBS2_Mid (PF14783)    BBS2_N (PF14781)   
Domain families : Pfam (NCBI)pfam14782    pfam14783    pfam14781   
Conserved Domain (NCBI)BBS2
DMDM Disease mutations583
Blocks (Seattle)BBS2
SuperfamilyQ9BXC9
Human Protein AtlasENSG00000125124
Peptide AtlasQ9BXC9
HPRD05855
IPIIPI00306961   IPI00556547   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXC9
IntAct (EBI)Q9BXC9
FunCoupENSG00000125124
BioGRIDBBS2
STRING (EMBL)BBS2
ZODIACBBS2
Ontologies - Pathways
QuickGOQ9BXC9
Ontology : AmiGORNA polymerase II repressing transcription factor binding  protein binding  cytosol  organelle organization  sperm axoneme assembly  visual perception  protein localization  negative regulation of gene expression  artery smooth muscle contraction  membrane  striatum development  hippocampus development  cerebral cortex development  adult behavior  motile cilium  melanosome transport  protein localization to organelle  BBSome  nonmotile primary cilium assembly  ciliary basal body  negative regulation of appetite by leptin-mediated signaling pathway  negative regulation of multicellular organism growth  positive regulation of multicellular organism growth  vasodilation  cilium assembly  Golgi to plasma membrane protein transport  fat cell differentiation  photoreceptor cell maintenance  brain morphogenesis  cartilage development  ciliary membrane  cilium morphogenesis  regulation of cilium beat frequency involved in ciliary motility  protein localization to ciliary membrane  
Ontology : EGO-EBIRNA polymerase II repressing transcription factor binding  protein binding  cytosol  organelle organization  sperm axoneme assembly  visual perception  protein localization  negative regulation of gene expression  artery smooth muscle contraction  membrane  striatum development  hippocampus development  cerebral cortex development  adult behavior  motile cilium  melanosome transport  protein localization to organelle  BBSome  nonmotile primary cilium assembly  ciliary basal body  negative regulation of appetite by leptin-mediated signaling pathway  negative regulation of multicellular organism growth  positive regulation of multicellular organism growth  vasodilation  cilium assembly  Golgi to plasma membrane protein transport  fat cell differentiation  photoreceptor cell maintenance  brain morphogenesis  cartilage development  ciliary membrane  cilium morphogenesis  regulation of cilium beat frequency involved in ciliary motility  protein localization to ciliary membrane  
NDEx NetworkBBS2
Atlas of Cancer Signalling NetworkBBS2
Wikipedia pathwaysBBS2
Orthology - Evolution
OrthoDB583
GeneTree (enSembl)ENSG00000125124
Phylogenetic Trees/Animal Genes : TreeFamBBS2
HOVERGENQ9BXC9
HOGENOMQ9BXC9
Homologs : HomoloGeneBBS2
Homology/Alignments : Family Browser (UCSC)BBS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBS2
dbVarBBS2
ClinVarBBS2
1000_GenomesBBS2 
Exome Variant ServerBBS2
ExAC (Exome Aggregation Consortium)BBS2 (select the gene name)
Genetic variants : HAPMAP583
Genomic Variants (DGV)BBS2 [DGVbeta]
DECIPHER (Syndromes)16:56518259-56554008  ENSG00000125124
CONAN: Copy Number AnalysisBBS2 
Mutations
ICGC Data PortalBBS2 
TCGA Data PortalBBS2 
Broad Tumor PortalBBS2
OASIS PortalBBS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBBS2
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch BBS2
DgiDB (Drug Gene Interaction Database)BBS2
DoCM (Curated mutations)BBS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBS2 (select a term)
intoGenBBS2
Cancer3DBBS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606151    615981   
Orphanet659    3244   
MedgenBBS2
Genetic Testing Registry BBS2
NextProtQ9BXC9 [Medical]
TSGene583
GENETestsBBS2
Huge Navigator BBS2 [HugePedia]
snp3D : Map Gene to Disease583
BioCentury BCIQBBS2
ClinGenBBS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD583
Chemical/Pharm GKB GenePA25276
Clinical trialBBS2
Miscellaneous
canSAR (ICR)BBS2 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBBS2
EVEXBBS2
GoPubMedBBS2
iHOPBBS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:42 CET 2017

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