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BTBD2 (BTB domain containing 2)

Identity

Alias_namesBTB (POZ) domain containing 2
Other alias-
HGNC (Hugo) BTBD2
LocusID (NCBI) 55643
Atlas_Id 51530
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1985447 and ends at 2015702 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BTBD2 (19p13.3) / LINGO3 (19p13.3)BTBD2 (19p13.3) / OAS2 (12q24.13)BTBD2 (19p13.3) / RPS17 (15q25.2)
DVL2 (17p13.1) / BTBD2 (19p13.3)NIFK (2q14.3) / BTBD2 (19p13.3)OAZ1 (19p13.3) / BTBD2 (19p13.3)
TNKS2 (10q23.32) / BTBD2 (19p13.3)BTBD2 19p13.3 / LINGO3 19p13.3BTBD2 19p13.3 / OAS2 12q24.13
MKI67IP BTBD2 19p13.3

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)BTBD2   15504
Cards
Entrez_Gene (NCBI)BTBD2  55643  BTB domain containing 2
Aliases
GeneCards (Weizmann)BTBD2
Ensembl hg19 (Hinxton)ENSG00000133243 [Gene_View]  chr19:1985447-2015702 [Contig_View]  BTBD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133243 [Gene_View]  chr19:1985447-2015702 [Contig_View]  BTBD2 [Vega]
ICGC DataPortalENSG00000133243
TCGA cBioPortalBTBD2
AceView (NCBI)BTBD2
Genatlas (Paris)BTBD2
WikiGenes55643
SOURCE (Princeton)BTBD2
Genetics Home Reference (NIH)BTBD2
Genomic and cartography
GoldenPath hg19 (UCSC)BTBD2  -     chr19:1985447-2015702 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BTBD2  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblBTBD2 - 19p13.3 [CytoView hg19]  BTBD2 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIBTBD2 [Mapview hg19]  BTBD2 [Mapview hg38]
OMIM608531   
Gene and transcription
Genbank (Entrez)AF355797 AK000393 AK027481 AK056818 AK225831
RefSeq transcript (Entrez)NM_017797
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)BTBD2
Cluster EST : UnigeneHs.465543 [ NCBI ]
CGAP (NCI)Hs.465543
Alternative Splicing GalleryENSG00000133243
Gene ExpressionBTBD2 [ NCBI-GEO ]   BTBD2 [ EBI - ARRAY_EXPRESS ]   BTBD2 [ SEEK ]   BTBD2 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55643
GTEX Portal (Tissue expression)BTBD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BX70   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BX70  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BX70
Splice isoforms : SwissVarQ9BX70
PhosPhoSitePlusQ9BX70
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB/POZ_dom    PHR    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    PHR (PF08005)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam08005   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  
Conserved Domain (NCBI)BTBD2
DMDM Disease mutations55643
Blocks (Seattle)BTBD2
PDB (SRS)3NO8   
PDB (PDBSum)3NO8   
PDB (IMB)3NO8   
PDB (RSDB)3NO8   
Structural Biology KnowledgeBase3NO8   
SCOP (Structural Classification of Proteins)3NO8   
CATH (Classification of proteins structures)3NO8   
SuperfamilyQ9BX70
Human Protein AtlasENSG00000133243
Peptide AtlasQ9BX70
HPRD12252
IPIIPI00022826   IPI00413200   IPI00749015   
Protein Interaction databases
DIP (DOE-UCLA)Q9BX70
IntAct (EBI)Q9BX70
FunCoupENSG00000133243
BioGRIDBTBD2
STRING (EMBL)BTBD2
ZODIACBTBD2
Ontologies - Pathways
QuickGOQ9BX70
Ontology : AmiGOcytoplasmic mRNA processing body  protein binding  
Ontology : EGO-EBIcytoplasmic mRNA processing body  protein binding  
NDEx NetworkBTBD2
Atlas of Cancer Signalling NetworkBTBD2
Wikipedia pathwaysBTBD2
Orthology - Evolution
OrthoDB55643
GeneTree (enSembl)ENSG00000133243
Phylogenetic Trees/Animal Genes : TreeFamBTBD2
HOVERGENQ9BX70
HOGENOMQ9BX70
Homologs : HomoloGeneBTBD2
Homology/Alignments : Family Browser (UCSC)BTBD2
Gene fusions - Rearrangements
Fusion : MitelmanBTBD2/LINGO3 [19p13.3/19p13.3]  
Fusion : MitelmanBTBD2/OAS2 [19p13.3/12q24.13]  [t(12;19)(q24;p13)]  
Fusion : MitelmanNIFK/BTBD2 [2q14.3/19p13.3]  [t(2;19)(q14;p13)]  
Fusion: TCGABTBD2 19p13.3 LINGO3 19p13.3 LGG
Fusion: TCGABTBD2 19p13.3 OAS2 12q24.13 LGG
Fusion: TCGAMKI67IP BTBD2 19p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD2
dbVarBTBD2
ClinVarBTBD2
1000_GenomesBTBD2 
Exome Variant ServerBTBD2
ExAC (Exome Aggregation Consortium)BTBD2 (select the gene name)
Genetic variants : HAPMAP55643
Genomic Variants (DGV)BTBD2 [DGVbeta]
DECIPHER (Syndromes)19:1985447-2015702  ENSG00000133243
CONAN: Copy Number AnalysisBTBD2 
Mutations
ICGC Data PortalBTBD2 
TCGA Data PortalBTBD2 
Broad Tumor PortalBTBD2
OASIS PortalBTBD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTBD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBTBD2
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 BTBD2
DgiDB (Drug Gene Interaction Database)BTBD2
DoCM (Curated mutations)BTBD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTBD2 (select a term)
intoGenBTBD2
Cancer3DBTBD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608531   
Orphanet
MedgenBTBD2
Genetic Testing Registry BTBD2
NextProtQ9BX70 [Medical]
TSGene55643
GENETestsBTBD2
Huge Navigator BTBD2 [HugePedia]
snp3D : Map Gene to Disease55643
BioCentury BCIQBTBD2
ClinGenBTBD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55643
Chemical/Pharm GKB GenePA25439
Clinical trialBTBD2
Miscellaneous
canSAR (ICR)BTBD2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTBD2
EVEXBTBD2
GoPubMedBTBD2
iHOPBTBD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:17 CEST 2017

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