LOCUS       NM_007049               2890 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens butyrophilin subfamily 2 member A1 (BTN2A1),
            transcript variant 1, mRNA.
ACCESSION   NM_007049
VERSION     NM_007049.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2890)
  AUTHORS   Yuan,L., Ma,X., Yang,Y., Qu,Y., Li,X., Zhu,X., Ma,W., Duan,J.,
            Xue,J., Yang,H., Huang,J.W., Yi,S., Zhang,M., Cai,N., Zhang,L.,
            Ding,Q., Lai,K., Liu,C., Zhang,L., Liu,X., Yao,Y., Zhou,S., Li,X.,
            Shen,P., Chang,Q., Malwal,S.R., He,Y., Li,W., Chen,C., Chen,C.C.,
            Oldfield,E., Guo,R.T. and Zhang,Y.
  TITLE     Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate
            Vgamma9Vdelta2 T cells
  JOURNAL   Nature 621 (7980), 840-848 (2023)
   PUBMED   37674084
  REMARK    GeneRIF: Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate
            Vgamma9Vdelta2 T cells.
REFERENCE   2  (bases 1 to 2890)
  AUTHORS   Nguyen,K., Jin,Y., Howell,M., Hsiao,C.C., Wiemer,A.J. and
            Vinogradova,O.
  TITLE     Mutations to the BTN2A1 Linker Region Impact Its Homodimerization
            and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1
  JOURNAL   J Immunol 211 (1), 23-33 (2023)
   PUBMED   37171180
  REMARK    GeneRIF: Mutations to the BTN2A1 Linker Region Impact Its
            Homodimerization and Its Cytoplasmic Interaction with
            Phospho-Antigen-Bound BTN3A1.
REFERENCE   3  (bases 1 to 2890)
  AUTHORS   Gay,L., Mezouar,S., Cano,C., Foucher,E., Gabriac,M., Fullana,M.,
            Madakamutil,L., Mege,J.L. and Olive,D.
  TITLE     BTN3A Targeting Vgamma9Vdelta2 T Cells Antimicrobial Activity
            Against Coxiella burnetii-Infected Cells
  JOURNAL   Front Immunol 13, 915244 (2022)
   PUBMED   35833118
  REMARK    GeneRIF: BTN3A Targeting Vgamma9Vdelta2 T Cells Antimicrobial
            Activity Against Coxiella burnetii-Infected Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2890)
  AUTHORS   Hsiao,C.C., Nguyen,K., Jin,Y., Vinogradova,O. and Wiemer,A.J.
  TITLE     Ligand-induced interactions between butyrophilin 2A1 and 3A1
            internal domains in the HMBPP receptor complex
  JOURNAL   Cell Chem Biol 29 (6), 985-995 (2022)
   PUBMED   35081362
  REMARK    GeneRIF: The intracellular domain of BTN2A1 binds to the
            intracellular domain of BTN3A1 only in the presence of
            phosphoantigen.
REFERENCE   5  (bases 1 to 2890)
  AUTHORS   Cano,C.E., Pasero,C., De Gassart,A., Kerneur,C., Gabriac,M.,
            Fullana,M., Granarolo,E., Hoet,R., Scotet,E., Rafia,C.,
            Herrmann,T., Imbert,C., Gorvel,L., Vey,N., Briantais,A., le
            Floch,A.C. and Olive,D.
  TITLE     BTN2A1, an immune checkpoint targeting Vgamma9Vdelta2 T cell
            cytotoxicity against malignant cells
  JOURNAL   Cell Rep 36 (2), 109359 (2021)
   PUBMED   34260935
  REMARK    GeneRIF: BTN2A1, an immune checkpoint targeting Vgamma9Vdelta2 T
            cell cytotoxicity against malignant cells.
REFERENCE   6  (bases 1 to 2890)
  AUTHORS   Yamada,Y., Nishida,T., Ichihara,S., Sawabe,M., Fuku,N.,
            Nishigaki,Y., Aoyagi,Y., Tanaka,M., Fujiwara,Y., Yoshida,H.,
            Shinkai,S., Satoh,K., Kato,K., Fujimaki,T., Yokoi,K., Oguri,M.,
            Yoshida,T., Watanabe,S., Nozawa,Y., Hasegawa,A., Kojima,T.,
            Han,B.G., Ahn,Y., Lee,M., Shin,D.J., Lee,J.H. and Jang,Y.
  TITLE     Association of a polymorphism of BTN2A1 with myocardial infarction
            in East Asian populations
  JOURNAL   Atherosclerosis 215 (1), 145-152 (2011)
   PUBMED   21211798
  REMARK    GeneRIF: BTN2A1 may be a susceptibility gene for myocardial
            infarction in Japanese individuals.
REFERENCE   7  (bases 1 to 2890)
  AUTHORS   Malcherek,G., Mayr,L., Roda-Navarro,P., Rhodes,D., Miller,N. and
            Trowsdale,J.
  TITLE     The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN
  JOURNAL   J Immunol 179 (6), 3804-3811 (2007)
   PUBMED   17785817
  REMARK    GeneRIF: Rather than interacting with T cells, butyrophilin BTN2A1
            is recognized by DC-SIGN on immature monocyte-derived dendritic
            cells.
REFERENCE   8  (bases 1 to 2890)
  AUTHORS   Rhodes,D.A., Stammers,M., Malcherek,G., Beck,S. and Trowsdale,J.
  TITLE     The cluster of BTN genes in the extended major histocompatibility
            complex
  JOURNAL   Genomics 71 (3), 351-362 (2001)
   PUBMED   11170752
REFERENCE   9  (bases 1 to 2890)
  AUTHORS   Ruddy,D.A., Kronmal,G.S., Lee,V.K., Mintier,G.A., Quintana,L.,
            Domingo,R. Jr., Meyer,N.C., Irrinki,A., McClelland,E.E., Fullan,A.,
            Mapa,F.A., Moore,T., Thomas,W., Loeb,D.B., Harmon,C.,
            Tsuchihashi,Z., Wolff,R.K., Schatzman,R.C. and Feder,J.N.
  TITLE     A 1.1-Mb transcript map of the hereditary hemochromatosis locus
  JOURNAL   Genome Res 7 (5), 441-456 (1997)
   PUBMED   9149941
REFERENCE   10 (bases 1 to 2890)
  AUTHORS   Tazi-Ahnini,R., Henry,J., Offer,C., Bouissou-Bouchouata,C.,
            Mather,I.H. and Pontarotti,P.
  TITLE     Cloning, localization, and structure of new members of the
            butyrophilin gene family in the juxta-telomeric region of the major
            histocompatibility complex
  JOURNAL   Immunogenetics 47 (1), 55-63 (1997)
   PUBMED   9382921
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY157783.1, DC348937.1 and
            U90543.1.
            
            On Nov 23, 2018 this sequence version replaced NM_007049.4.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U90543.1, SRR1803615.169318.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312541.10/ ENSP00000312158.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                HY157783.1         54-96
            44-83               DC348937.1         49-88
            84-2890             U90543.1           76-2882
FEATURES             Location/Qualifiers
     source          1..2890
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..2890
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /note="butyrophilin subfamily 2 member A1"
                     /db_xref="GeneID:11120"
                     /db_xref="HGNC:HGNC:1136"
                     /db_xref="MIM:613590"
     exon            1..188
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            189..300
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..1802
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="butyrophilin subfamily 2 member A1 isoform 1
                     precursor"
                     /protein_id="NP_008980.1"
                     /db_xref="CCDS:CCDS4613.1"
                     /db_xref="GeneID:11120"
                     /db_xref="HGNC:HGNC:1136"
                     /db_xref="MIM:613590"
                     /translation="MESAAALHFSRPASLLLLLLSLCALVSAQFIVVGPTDPILATVG
                     ENTTLRCHLSPEKNAEDMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRTTFVSKD
                     ISRGSVALVIHNITAQENGTYRCYFQEGRSYDEAILHLVVAGLGSKPLISMRGHEDGG
                     IRLECISRGWYPKPLTVWRDPYGGVAPALKEVSMPDADGLFMVTTAVIIRDKSVRNMS
                     CSINNTLLGQKKESVIFIPESFMPSVSPCAVALPIIVVILMIPIAVCIYWINKLQKEK
                     KILSGEKEFERETREIALKELEKERVQKEEELQVKEKLQEELRWRRTFLHAVDVVLDP
                     DTAHPDLFLSEDRRSVRRCPFRHLGESVPDNPERFDSQPCVLGRESFASGKHYWEVEV
                     ENVIEWTVGVCRDSVERKGEVLLIPQNGFWTLEMHKGQYRAVSSPDRILPLKESLCRV
                     GVFLDYEAGDVSFYNMRDRSHIYTCPRSAFSVPVRPFFRLGCEDSPIFICPALTGANG
                     VTVPEEGLTLHRVGTHQSL"
     exon            301..648
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            649..930
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1152
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1173
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1200
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..2890
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2868..2873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /note="hexamer: AATAAA"
     polyA_site      2890
                     /gene="BTN2A1"
                     /gene_synonym="BK14H9.1; BT2.1; BTF1; BTN2.1; DJ3E1.1"
                     /note="major polyA site"
ORIGIN      
        1 agatttcgtt tcctgcatct ccaaacatgg cgacctagga gaaggggaag aacaattttt
       61 tctcctcttt tgggaaggtt tgtgtctagt agtgcctgtg cccctgggca gattggagag
      121 aagagggacg actggagaat cgtcgagaac cagcggagaa aagaaaaagc aacgtttaat
      181 tctagaaggc ctcctgtccc tgcctgctct gggtgctcat ggaatcagct gctgccctgc
      241 acttctcccg gccagcctcc ctcctcctcc tcctcctcag cctgtgtgca ctggtctcag
      301 cccagtttat tgtcgtgggg cccactgatc ccatcttggc cacggttgga gaaaacacta
      361 cgttacgctg ccatctgtca cccgagaaaa atgctgagga catggaggtg cggtggttcc
      421 ggtctcagtt ctcccccgca gtgtttgtgt ataaaggtgg cagagagaga acagaggagc
      481 agatggagga gtaccgagga agaaccacct ttgtgagcaa agacatcagc aggggcagcg
      541 tggccctggt catacacaac atcacagccc aggaaaacgg cacctaccgc tgttacttcc
      601 aagaaggcag gtcctacgat gaggccatcc tgcacctcgt agtggcagga ctaggctcta
      661 agcccctcat ttcaatgagg ggccatgaag acgggggcat ccggctggag tgcatatcta
      721 gagggtggta cccaaagccc ctcacagtgt ggagggaccc ctacggtggg gttgcgcctg
      781 ccctgaaaga ggtctccatg cctgatgcag acggcctctt catggtcacc acggctgtga
      841 tcatcagaga caagtctgtg aggaacatgt cctgctctat caacaacacc ctgctcggcc
      901 agaagaaaga aagtgtcatt tttattccag aatcctttat gcccagtgtg tctccctgtg
      961 cagtggccct gcctatcatt gtggttattc tgatgatacc cattgccgta tgcatctatt
     1021 ggatcaacaa actccaaaag gaaaaaaaga ttctgtcagg ggaaaaggag tttgaacggg
     1081 aaacaagaga aattgctcta aaggaactgg agaaagaacg tgtgcaaaaa gaggaagaac
     1141 ttcaagtaaa agagaaactt caagaagaat tgcgatggag aagaacattc ttacatgctg
     1201 ttgatgtggt cctggatcca gacaccgctc atcccgatct cttcctgtca gaggaccgga
     1261 gaagtgtgag aaggtgcccc ttcaggcacc taggggagag cgtgcctgac aacccagaga
     1321 gattcgacag tcagccttgt gtcctaggcc gggagagctt cgcttcaggg aaacattact
     1381 gggaggtgga ggtggaaaac gtgattgagt ggactgtggg ggtctgtaga gacagtgttg
     1441 agaggaaagg ggaggtcctg ctgattcctc agaatggctt ctggaccttg gagatgcata
     1501 aagggcaata ccgggccgtg tcctcccctg ataggattct ccctttgaag gagtcccttt
     1561 gccgggtggg cgtcttcctg gactatgaag ctggagatgt ctccttctac aacatgaggg
     1621 acagatcgca catctacaca tgtccccgtt cagccttttc cgtgcctgtg aggcccttct
     1681 tcaggttggg gtgtgaggac agccccatct tcatctgccc tgcactcaca ggagccaatg
     1741 gggtcacggt gcctgaagag ggcctgacac ttcacagagt ggggacccac cagagcctat
     1801 agaatcaatt ccttggtctc acagccatgt agacaagccc tggtcatctc agcagccacc
     1861 gcacaacacc cctggtggaa gacacgccct cctcccctct ggtcacacaa gagaacatct
     1921 tccagctgcc tctttcacac ccactacaga cctcagcccc agttttctcc tcctcactag
     1981 gctgtgtttt tagtagttcc tttgcttgta actatgggat gggatccagg catagggaac
     2041 tagttgttac acagctccca gccaagaaga aagtgtgaga agttgatggg cagcaaacct
     2101 gctgtttaac atcagggtga ccacattaag cccagtattc cagttggcac cagaagatat
     2161 ggacttggaa tgaggcctac agggttcacc aggatgtaag aggagagagg aatccacagg
     2221 accaccagag aggagaggga accagatatg cagatcagag atagaggaag tggaaccaga
     2281 gagctgggag ggaccaaggt tgtaagggtg gctaagtccc accataacag ctaaggggac
     2341 ctgggagatg atggctcatt tccacccagc cccaggattt ccagagcgca catccacagg
     2401 cctggacctg ggatgaagat gaatgaagaa catggatgca cgtggatgta gtttggctca
     2461 ggtgtccctg cagttggcaa ggagtcagta ctcagtccct gagtgtggct gaaatttgag
     2521 gtcctggctg agccaaggag taatggacca gatctacctc agtattcaag ttcagtgggg
     2581 acaccagtgg cttcaaactt cctggtttca tgatatcttg agacgcctta caaatgatgg
     2641 aggattccaa agagtttttg tttatttggg ttaatatttg ttggtattta tggcatttga
     2701 gattgaaact aagaaatgtt ttaatttatt acctttacaa catttattta cattacatac
     2761 atacatttac aacatttatt aatttatatt aaaatagcat gaataagcca attataggtt
     2821 aatataagta gaatgtttgt gaaaaataag tatggtatcc aaagcaaaat aaattttatt
     2881 gtgaagtgtg
//
