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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTN2A1 Gene

protein-coding   GIFtS: 53
GCID: GC06P026458

Butyrophilin, Subfamily 2, Member A1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Butyrophilin, Subfamily 2, Member A11 2
BTF12 3 5
BT2.12 3
BK14H9.12
DJ3E1.12
Butyrophilin Subfamily 2 Member A12

External Ids:    HGNC: 11361   Entrez Gene: 111202   Ensembl: ENSG000001127637   OMIM: 6135905   UniProtKB: Q7KYR73   

Export aliases for BTN2A1 gene to outside databases

Previous GC identifers: GC06P026515 GC06P026566 GC06P026400


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BTN2A1 Gene:
This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of
butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A
pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane
protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with
several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2013)

GeneCards Summary for BTN2A1 Gene: 
BTN2A1 (butyrophilin, subfamily 2, member A1) is a protein-coding gene. Diseases associated with BTN2A1 include hemochromatosis, and kidney disease. GO annotations related to this gene include molecular_function. An important paralog of this gene is BTN3A2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTN2A1 gene promoter:
         Elk-1   p53   MyoD   NF-kappaB   POU2F1   POU2F1a   NF-kappaB2   STAT3   MRF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTN2A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BTN2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTN2A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.1

BTN2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTN2A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026458:  view genomic region     (about GC identifiers)

Start:
26,458,150 bp from pter      End:
26,476,849 bp from pter
Size:
18,700 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7 (See protein sequence)
Recommended Name: Butyrophilin subfamily 2 member A1 precursor  
Size: 527 amino acids; 59633 Da
Subcellular location: Membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAD93014.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAB71221.2; Type=Erroneous gene model prediction;
Secondary accessions: B4DLP9 E9PGR4 O00475 P78408 Q59EN4 Q7KYQ7 Q7Z386 Q96AV7 Q9NU62
Alternative splicing: 6 isoforms:  Q7KYR7-2   Q7KYR7-1   Q7KYR7-3   Q7KYR7-4   Q7KYR7-5   Q7KYR7-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTN2A1: NX_Q7KYR7

Explore proteomics data for BTN2A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7KYR7

  • BTN2A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTN2A1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001184162.1  NP_001184163.1  NP_008980.1  NP_510961.1  

    ENSEMBL proteins: 
     ENSP00000366825   ENSP00000312158   ENSP00000420447   ENSP00000416945   ENSP00000419043  
     ENSP00000418936   ENSP00000443909  

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    Cloud-Clone Corp. Proteins for BTN2A1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS9382921

    BTN2A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    C2SET: Immunoglobulin superfamily / C2-set domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    5/11 InterPro protein domains (see all 11):
     IPR007110 Ig-like_dom
     IPR006574 PRY
     IPR013162 CD80_C2-set
     IPR003599 Ig_sub
     IPR001870 B30.2/SPRY

    Graphical View of Domain Structure for InterPro Entry Q7KYR7

    ProtoNet protein and cluster: Q7KYR7

    4 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB006574 SPRY-associated domain
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7
    Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG family
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    BTN2A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for BTN2A1:
    butyrophilin subfamily 2,member A1,B box family of proteins,involved in cell proliferation and development

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    BTN2A1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTN2A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BTN2A1 (ENSP000003121584) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS9382921

    BTN2A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTN2A1 (BT2A1)

    Search CenterWatch for drugs/clinical trials and news about BTN2A1 / BT2A1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BTN2A1 gene (4 alternative transcripts): 
    NM_001197233.2  NM_001197234.2  NM_007049.4  NM_078476.3  

    Unigene Cluster for BTN2A1:

    Butyrophilin, subfamily 2, member A1
    Hs.159028  [show with all ESTs]
    Unigene Representative Sequence: NM_078476
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377600 ENST00000312541(uc003nib.2 uc011dko.2) ENST00000493173
    ENST00000429381(uc003nic.2) ENST00000469185(uc021yni.1) ENST00000480218
    ENST00000541522
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BTN2A1:
    hsa-miR-342-3p
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB209777.1 AK297098.1 BC016661.1 BX538050.1 U90543.1 

    16 DOTS entries:

    DT.95375241  DT.446295  DT.100692194  DT.100790812  DT.95375242  DT.121381100  DT.91765458  DT.102829783 
    DT.40259410  DT.91765465  DT.95375283  DT.91765463  DT.100790813  DT.70100240  DT.91765460  DT.75100617 

    24/174 AceView cDNA sequences (see all 174):

    BX100158 BM987427 AW007668 NM_078476 AI886747 F02772 AW071540 CR609907 
    BX646708 BG236167 CA442508 AV651052 BQ723180 AW438821 AI625501 AK093886 
    BX339691 CR592580 CA489625 CF529921 AA026328 AA704821 AI184441 AA778831 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BTN2A1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                            
    SP2:              -                                             
    SP3:                                      -                     
    SP4:                                                            


    ECgene alternative splicing isoforms for BTN2A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BTN2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAGCCAA
    BTN2A1 Expression
    About this image


    See BTN2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTN2A1

    SOURCE GeneReport for Unigene cluster: Hs.159028

    UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7
    Tissue specificity: Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate
    expression was seen in lung, liver and kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
      --

    ENSEMBL Gene Tree for BTN2A1 (if available)
    TreeFam Gene Tree for BTN2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTN2A1 gene
    BTN3A22  BTNL82  ERMAP2  BTN2A22  BTN3A32  MOG2  BTN3A12  BTNL22  
    BTN1A12  BTNL32  BTNL92  
    12 SIMAP similar genes for BTN2A1 using alignment to 4 protein entries:     BT2A1_HUMAN (see all proteins):
    BTN2A2    BTN2A3P    BTN3A2    BTN3A3    BTNL2    MOG
    BTNL10    BTN1A1    BTN3A1    BTNL9    BTNL3    BTNL8

    BTN2A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BTN2A1
    PGOHUM00000260151


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/421 SNPs in BTN2A1 are shown (see all 421)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394614311,2
    Cuntested126468636(+) TTTTCC/TGTGCC 6 S syn1 ut31 int11Minor allele frequency- T:0.00NA 4552
    rs93487181,2
    C,F,H--26456280(+) CGTCAA/GCTGAT 4 -- us2k116Minor allele frequency- G:0.18NS EA NA WA 2220
    rs64567241,2
    C,F,A,H--26456443(+) CATCCC/TGGCTG 4 -- us2k127Minor allele frequency- T:0.09NA NS EA WA CSA 2401
    rs1498307781,2
    --26456822(+) TGACTC/GCAGGA 4 -- us2k10--------
    rs1818948431,2
    --26456917(+) TTAGAC/GCTGGG 4 -- us2k10--------
    rs1853769031,2
    --26456938(+) TGAGAA/GGAATC 4 -- us2k10--------
    rs93589421,2
    C,A--26457124(+) GGCACA/GAAGGC 4 -- us2k18Minor allele frequency- G:0.08NA WA CSA 13
    rs1163812441,2
    C,F--26457183(+) GCCATG/AGCATG 4 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1485557081,2
    C--26457290(+) CAGAAA/GGGAAT 4 -- us2k10--------
    rs1113712491,2
    C--26457306(+) GCCTCC/TAGACT 4 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for BTN2A1 (26458150 - 26476849 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BTN2A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528172CNV Loss19592680


    Human Gene Mutation Database (HGMD): BTN2A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613590    OMIM disorders: --

    4 diseases for BTN2A1:    About MalaCards
    hemochromatosis    kidney disease    myocardial infarction    hypertension


    BTN2A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BTN2A1
    Human Genome Epidemiology (HuGE) Navigator: BTN2A1 (1 document)

    Export disorders for BTN2A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BTN2A1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with BTN2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PubMed id 9382921)1, 2, 3 Tazi-Ahnini R....Pontarotti P. (1997)
    2. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PubMed id 9149941)1, 2, 3 Ruddy D.A.... Feder J.N. (1997)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN. (PubMed id 17785817)1, 9 Malcherek G....Trowsdale J. (2007)
    6. Synergistic effects of genetic variants of APOA5 and B TN2A1 on dyslipidemia or metabolic syndrome. (PubMed id 22576629)1 Hiramatsu M....Yamada Y. (2012)
    7. Association of a polymorphism of BTN2A1 with type 2 di abetes mellitus in Japanese individuals. (PubMed id 21672009)1 Hiramatsu M....Yamada Y. (2011)
    8. Association of polymorphisms of BTN2A1 and ILF3 with myocardial infarction in Japanese individuals with different lipid profiles. (PubMed id 21468600)1 Yoshida T....Yamada Y. (2011)
    9. Association of a polymorphism of BTN2A1 with myocardi al infarction in East Asian populations. (PubMed id 21211798)1 Yamada Y....Jang Y. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11120 HGNC: 1136 AceView: BTN2A1 Ensembl:ENSG00000112763 euGenes: HUgn11120
    ECgene: BTN2A1 H-InvDB: BTN2A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BTN2A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BTN2A1 gene:
    Search GeneIP for patents involving BTN2A1

    GeneCards and IP:
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