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BTN2A1 (butyrophilin subfamily 2 member A1)

Identity

Alias_namesbutyrophilin, subfamily 2, member A1
Alias_symbol (synonym)BT2.1
BTF1
BTN2.1
Other aliasBK14H9.1
DJ3E1.1
HGNC (Hugo) BTN2A1
LocusID (NCBI) 11120
Atlas_Id 60836
Location 6p22.2  [Link to chromosome band 6p22]
Location_base_pair Starts at 26457904 and ends at 26469653 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BTN2A1 (6p22.2) / HIST1H2AC (6p22.2)BTN2A1 (6p22.2) / HIST1H2BC (6p22.2)BTN2A1 (6p22.2) / LAMP1 (13q34)
DCAKD (17q21.31) / BTN2A1 (6p22.2)BTN2A1 HIST1H2ACBTN2A1 HIST1H2BC

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(p22;p22) BTN2A1/HIST1H2AC
t(6;6)(p22;p22) BTN2A1/HIST1H2BC


External links

Nomenclature
HGNC (Hugo)BTN2A1   1136
Cards
Entrez_Gene (NCBI)BTN2A1  11120  butyrophilin subfamily 2 member A1
AliasesBK14H9.1; BT2.1; BTF1; BTN2.1; 
DJ3E1.1
GeneCards (Weizmann)BTN2A1
Ensembl hg19 (Hinxton)ENSG00000112763 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112763 [Gene_View]  ENSG00000112763 [Sequence]  chr6:26457904-26469653 [Contig_View]  BTN2A1 [Vega]
ICGC DataPortalENSG00000112763
TCGA cBioPortalBTN2A1
AceView (NCBI)BTN2A1
Genatlas (Paris)BTN2A1
WikiGenes11120
SOURCE (Princeton)BTN2A1
Genetics Home Reference (NIH)BTN2A1
Genomic and cartography
GoldenPath hg38 (UCSC)BTN2A1  -     chr6:26457904-26469653 +  6p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTN2A1  -     6p22.2   [Description]    (hg19-Feb_2009)
EnsemblBTN2A1 - 6p22.2 [CytoView hg19]  BTN2A1 - 6p22.2 [CytoView hg38]
Mapping of homologs : NCBIBTN2A1 [Mapview hg19]  BTN2A1 [Mapview hg38]
OMIM613590   
Gene and transcription
Genbank (Entrez)AB209777 AK093886 AK297098 AW007668 BC016661
RefSeq transcript (Entrez)NM_001197233 NM_001197234 NM_007049 NM_078476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BTN2A1
Cluster EST : UnigeneHs.159028 [ NCBI ]
CGAP (NCI)Hs.159028
Alternative Splicing GalleryENSG00000112763
Gene ExpressionBTN2A1 [ NCBI-GEO ]   BTN2A1 [ EBI - ARRAY_EXPRESS ]   BTN2A1 [ SEEK ]   BTN2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)BTN2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11120
GTEX Portal (Tissue expression)BTN2A1
Human Protein AtlasENSG00000112763-BTN2A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7KYR7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7KYR7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7KYR7
Splice isoforms : SwissVarQ7KYR7
PhosPhoSitePlusQ7KYR7
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)B30.2/SPRY    Butyrophylin    ConA-like_dom    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set    PRY    SPRY_dom   
Domain families : Pfam (Sanger)PRY (PF13765)    SPRY (PF00622)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam13765    pfam00622    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  IGv (SM00406)  PRY (SM00589)  SPRY (SM00449)  
Conserved Domain (NCBI)BTN2A1
DMDM Disease mutations11120
Blocks (Seattle)BTN2A1
SuperfamilyQ7KYR7
Human Protein Atlas [tissue]ENSG00000112763-BTN2A1 [tissue]
Peptide AtlasQ7KYR7
HPRD12544
IPIIPI00215967   IPI00641524   IPI00549701   IPI00945716   IPI00019862   IPI00947432   IPI00947275   IPI00945393   
Protein Interaction databases
DIP (DOE-UCLA)Q7KYR7
IntAct (EBI)Q7KYR7
FunCoupENSG00000112763
BioGRIDBTN2A1
STRING (EMBL)BTN2A1
ZODIACBTN2A1
Ontologies - Pathways
QuickGOQ7KYR7
Ontology : AmiGOmolecular_function  plasma membrane  integral component of plasma membrane  lipid metabolic process  extracellular exosome  
Ontology : EGO-EBImolecular_function  plasma membrane  integral component of plasma membrane  lipid metabolic process  extracellular exosome  
NDEx NetworkBTN2A1
Atlas of Cancer Signalling NetworkBTN2A1
Wikipedia pathwaysBTN2A1
Orthology - Evolution
OrthoDB11120
GeneTree (enSembl)ENSG00000112763
Phylogenetic Trees/Animal Genes : TreeFamBTN2A1
HOVERGENQ7KYR7
HOGENOMQ7KYR7
Homologs : HomoloGeneBTN2A1
Homology/Alignments : Family Browser (UCSC)BTN2A1
Gene fusions - Rearrangements
Fusion PortalBTN2A1 HIST1H2AC
Fusion PortalBTN2A1 HIST1H2BC
Fusion : QuiverBTN2A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTN2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTN2A1
dbVarBTN2A1
ClinVarBTN2A1
1000_GenomesBTN2A1 
Exome Variant ServerBTN2A1
ExAC (Exome Aggregation Consortium)ENSG00000112763
GNOMAD BrowserENSG00000112763
Varsome BrowserBTN2A1
Genetic variants : HAPMAP11120
Genomic Variants (DGV)BTN2A1 [DGVbeta]
DECIPHERBTN2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTN2A1 
Mutations
ICGC Data PortalBTN2A1 
TCGA Data PortalBTN2A1 
Broad Tumor PortalBTN2A1
OASIS PortalBTN2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTN2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBTN2A1
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 BTN2A1
DgiDB (Drug Gene Interaction Database)BTN2A1
DoCM (Curated mutations)BTN2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTN2A1 (select a term)
intoGenBTN2A1
Cancer3DBTN2A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613590   
Orphanet
DisGeNETBTN2A1
MedgenBTN2A1
Genetic Testing Registry BTN2A1
NextProtQ7KYR7 [Medical]
TSGene11120
GENETestsBTN2A1
Target ValidationBTN2A1
Huge Navigator BTN2A1 [HugePedia]
snp3D : Map Gene to Disease11120
BioCentury BCIQBTN2A1
ClinGenBTN2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11120
Chemical/Pharm GKB GenePA25456
Clinical trialBTN2A1
Miscellaneous
canSAR (ICR)BTN2A1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTN2A1
EVEXBTN2A1
GoPubMedBTN2A1
iHOPBTN2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Jul 30 13:37:09 CEST 2018

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