LOCUS       NM_006995               3583 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens butyrophilin subfamily 2 member A2 (BTN2A2),
            transcript variant 1, mRNA.
ACCESSION   NM_006995
VERSION     NM_006995.5
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 3583)
  AUTHORS   Kim,J.W., Rim,D., Ann,C.H. and Lee,S.H.
  TITLE     Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3
            genes in colon cancers
  JOURNAL   Pathol Res Pract 249, 154769 (2023)
   PUBMED   37634314
  REMARK    GeneRIF: Frameshift mutations of immunomodulatory BTN2A1, BTN2A2,
            and BTNL3 genes in colon cancers.
REFERENCE   2  (bases 1 to 3583)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3583)
  AUTHORS   Sarter,K., Leimgruber,E., Gobet,F., Agrawal,V., Dunand-Sauthier,I.,
            Barras,E., Mastelic-Gavillet,B., Kamath,A., Fontannaz,P., Guery,L.,
            Duraes Fdo,V., Lippens,C., Ravn,U., Santiago-Raber,M.L.,
            Magistrelli,G., Fischer,N., Siegrist,C.A., Hugues,S. and Reith,W.
  TITLE     Btn2a2, a T cell immunomodulatory molecule coregulated with MHC
            class II genes
  JOURNAL   J Exp Med 213 (2), 177-187 (2016)
   PUBMED   26809444
  REMARK    GeneRIF: Genes encoding butyrophilin-2A2 (BTN2A2) are regulated by
            the class II trans-activator and regulatory factor X, two
            transcription factors dedicated to major histocompatibility complex
            class II expression, suggesting a role in T cell immunity.
REFERENCE   4  (bases 1 to 3583)
  AUTHORS   Shi,J., Levinson,D.F., Duan,J., Sanders,A.R., Zheng,Y., Pe'er,I.,
            Dudbridge,F., Holmans,P.A., Whittemore,A.S., Mowry,B.J., Olincy,A.,
            Amin,F., Cloninger,C.R., Silverman,J.M., Buccola,N.G.,
            Byerley,W.F., Black,D.W., Crowe,R.R., Oksenberg,J.R., Mirel,D.B.,
            Kendler,K.S., Freedman,R. and Gejman,P.V.
  TITLE     Common variants on chromosome 6p22.1 are associated with
            schizophrenia
  JOURNAL   Nature 460 (7256), 753-757 (2009)
   PUBMED   19571809
REFERENCE   5  (bases 1 to 3583)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   6  (bases 1 to 3583)
  AUTHORS   Cavaletto,M., Giuffrida,M.G., Fortunato,D., Gardano,L.,
            Dellavalle,G., Napolitano,L., Giunta,C., Bertino,E., Fabris,C. and
            Conti,A.
  TITLE     A proteomic approach to evaluate the butyrophilin gene family
            expression in human milk fat globule membrane
  JOURNAL   Proteomics 2 (7), 850-856 (2002)
   PUBMED   12124930
REFERENCE   7  (bases 1 to 3583)
  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   8  (bases 1 to 3583)
  AUTHORS   Henry,J., Miller,M.M. and Pontarotti,P.
  TITLE     Structure and evolution of the extended B7 family
  JOURNAL   Immunol Today 20 (6), 285-288 (1999)
   PUBMED   10354554
  REMARK    Review article
REFERENCE   9  (bases 1 to 3583)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC388932.1, U90550.1 and
            BC014021.2.
            
            On May 17, 2019 this sequence version replaced NM_006995.4.
            
            Summary: Butyrophilin is the major protein associated with fat
            droplets in the milk. This gene is a member of the BTN2 subfamily
            of genes, which encode proteins belonging to the butyrophilin
            protein family. The gene is located in a cluster on chromosome 6,
            consisting of seven genes belonging to the expanding
            B7/butyrophilin-like group, a subset of the immunoglobulin gene
            superfamily. The encoded protein is a type I receptor glycoprotein
            involved in lipid, fatty-acid and sterol metabolism. Several
            alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2010].
            
            Transcript Variant: This variant (1) and variant 3 encode the
            longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: U90550.1, SRR1803615.20391.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356709.9/ ENSP00000349143.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                DC388932.1         9-59
            52-1501             U90550.1           34-1483
            1502-2701           BC014021.2         1507-2706
            2702-3583           U90550.1           2685-3566
FEATURES             Location/Qualifiers
     source          1..3583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..3583
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /note="butyrophilin subfamily 2 member A2"
                     /db_xref="GeneID:10385"
                     /db_xref="HGNC:HGNC:1137"
                     /db_xref="MIM:613591"
     exon            1..74
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            75..198
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1676
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; butyrophilin 2"
                     /codon_start=1
                     /product="butyrophilin subfamily 2 member A2 isoform a
                     precursor"
                     /protein_id="NP_008926.2"
                     /db_xref="CCDS:CCDS4606.1"
                     /db_xref="GeneID:10385"
                     /db_xref="HGNC:HGNC:1137"
                     /db_xref="MIM:613591"
                     /translation="MEPAAALHFSLPASLLLLLLLLLLSLCALVSAQFTVVGPANPIL
                     AMVGENTTLRCHLSPEKNAEDMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRITF
                     VSKDINRGSVALVIHNVTAQENGIYRCYFQEGRSYDEAILRLVVAGLGSKPLIEIKAQ
                     EDGSIWLECISGGWYPEPLTVWRDPYGEVVPALKEVSIADADGLFMVTTAVIIRDKYV
                     RNVSCSVNNTLLGQEKETVIFIPESFMPSASPWMVALAVILTASPWMVSMTVILAVFI
                     IFMAVSICCIKKLQREKKILSGEKKVEQEEKEIAQQLQEELRWRRTFLHAADVVLDPD
                     TAHPELFLSEDRRSVRRGPYRQRVPDNPERFDSQPCVLGWESFASGKHYWEVEVENVM
                     VWTVGVCRHSVERKGEVLLIPQNGFWTLEMFGNQYRALSSPERILPLKESLCRVGVFL
                     DYEAGDVSFYNMRDRSHIYTCPRSAFTVPVRPFFRLGSDDSPIFICPALTGASGVMVP
                     EEGLKLHRVGTHQSL"
     exon            199..546
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            547..828
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1035
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1056
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1083
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..3583
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3563..3568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /note="hexamer: AATAAA"
     polyA_site      3583
                     /gene="BTN2A2"
                     /gene_synonym="BT2.2; BTF2; BTN2.2"
                     /note="major polyA site"
ORIGIN      
        1 gggacttttt ggacacccag agaacaggtc ccagataccg agtccgcaac tccaaacatc
       61 gcgattaata ggaggcctct ggtctctgcc tgccctgggt gctcatggaa ccagctgctg
      121 ctctgcactt ctccctgcca gcctccctcc tcctcctcct gctcctcctc cttctcagcc
      181 tgtgtgcact ggtctcagcc cagtttactg tcgtggggcc agctaatccc atcctggcca
      241 tggtgggaga aaacactaca ttacgctgcc atctgtcacc cgagaaaaat gctgaggaca
      301 tggaggtgcg gtggttccgg tctcagttct cccccgcagt gtttgtgtat aagggtggga
      361 gagagagaac agaggagcag atggaggagt accggggaag aatcaccttt gtgagcaaag
      421 acatcaacag gggcagcgtg gccctggtca tacataacgt cacagcccag gagaatggga
      481 tctaccgctg ttacttccaa gaaggcaggt cctacgatga ggccatccta cgcctcgtgg
      541 tggcaggcct tgggtctaag cccctcattg aaatcaaggc ccaagaggat gggagcatct
      601 ggctggagtg catatctgga gggtggtacc cagagcccct cacagtgtgg agggacccct
      661 acggtgaggt tgtgcccgcc ctgaaggagg tttccatcgc tgatgctgac ggcctcttca
      721 tggtcaccac agctgtgatc atcagagaca agtatgtgag gaatgtgtcc tgctctgtca
      781 acaacaccct gctcggccag gagaaggaaa ctgtcatttt tattccagaa tcctttatgc
      841 ccagcgcatc tccctggatg gtggccctag ctgtcatcct gaccgcatct ccctggatgg
      901 tgtccatgac tgtcatcctg gctgttttca tcatcttcat ggctgtcagc atctgttgca
      961 tcaagaaact tcaaagggaa aaaaagattc tgtcagggga aaagaaagtt gaacaagagg
     1021 aaaaagaaat tgcacagcaa cttcaagaag aattgcgatg gagaagaaca ttcttacatg
     1081 ctgctgatgt ggtcctggat ccagacaccg ctcatcccga gctcttcctg tcagaggacc
     1141 ggagaagtgt gaggcggggc ccctacaggc agagagtgcc tgacaaccca gagagattcg
     1201 acagtcagcc ttgtgtcctg ggatgggaga gcttcgcctc agggaaacat tactgggagg
     1261 tggaggtgga aaacgtgatg gtgtggactg tgggggtctg cagacacagt gttgagagga
     1321 aaggggaggt cctgctgatt cctcagaatg gcttctggac cctggagatg tttggaaacc
     1381 aataccgggc cctgtcctcc cctgagagga ttctcccttt gaaggagtcc ctttgccggg
     1441 tgggcgtctt cctggactat gaagctggag atgtctcctt ctacaacatg agggacagat
     1501 cgcacatcta cacatgtccc cgttcagcct ttactgtgcc tgtgaggccc ttcttcaggt
     1561 tagggtctga tgacagcccc atcttcatct gccctgcact cacaggagcc agtggggtca
     1621 tggtgcctga agagggcctg aaacttcaca gagtggggac ccaccagagc ctatagaatc
     1681 aattccttgg actcacagcc atgcagataa gccctggcca tctcagcagc caccgcacaa
     1741 cccccctaat gaaagacacg ccctcctccc ctctggtcac gtaagagaac atcttccagc
     1801 tgcctttttc acacccactc cagccctctg ccccagtttt ctcctcctca ctagtctgtg
     1861 gctttagtag ttcctttgct tgtaattatg ggatgggatc caggcatagg gaactagttg
     1921 tttcatagct cccagtcaaa aagaaagtga gagaagctgt tgggcagcga acctactgtt
     1981 taaaatcagg ataaccacat taagcccaat atgccagttg gcaccagatg ctgtggactt
     2041 ggaatgaggc caacagggtt caccaggatg agagaggaga gaggaatcca caggaccacc
     2101 agaagggaga gggaaccaga tatgcagatc agagatagag gaagtggaac cagagagctg
     2161 ggagggacca aggttgtaag gatggctaag tcccaccata agagctaaag ggtcctggga
     2221 gatgatggct catttccacc caaccccagg atttccacag cacacaccca caggcctgga
     2281 cctgggatga agatgaatga agaacatgga ctcatgtgga tgtggtttgg ctcagatgtc
     2341 cctgcaataa acaaggggtc agtacttagt ccctgagtgt ggttgaggtt tgaggtcctg
     2401 gtcgagcagg gcagtactgg accaggtcta cgtcagcatt caggttcaat ggggacacca
     2461 gtggcttcaa acttcctgat ctaattatgt ttttagacac ttagaagtta ttgaggactt
     2521 taaagagctt ttgtttattt gggttaatat ttatgacatt tgacattgaa acaaaaattt
     2581 aaaatgttat cttttaattt atgttaaaat agcattaata aatcagttat aggttaatgt
     2641 agataggatg ttttgtgaaa aagcaatcta ttgtgtccaa ataaaaaaac aaaaagtgtg
     2701 acactggtta actttttcca gatctcatgt ctggcttaat aagagatatt tgtattatca
     2761 tatctgcctt tgtattaaac ctattggtat atcataggtc atgttagctc aaaaaaactt
     2821 tactgcacac tactgagaga atgagatgaa aaacgattaa tgtttcatta ttattattgt
     2881 gaaaatatta ttaacactgg ggactcctta agagtacatc agagttctct ctaggaatcc
     2941 caaaaccaca ttttgaaact agaatagtgg atcctggaag ttaatccatg tgctggttaa
     3001 ttttagatgt caacctgact ggattaagga atacctagac agctggtaca acattatttc
     3061 tgggtgtgtc tgtgagtgtg tttccagaag agattggcaa gtgagtcagt gggaaattct
     3121 ctccttctgt tggctgggtg cccaatacaa caaaaaggca gaggaaaggc aaattcttct
     3181 ctcctctgga gctgagacac tcttcttctt ctgcccttgg acatcagaac tcctggctct
     3241 ccggcctttg aacttcagga cttgtaccag gaggccctgg gttctcaggc ctttggcttt
     3301 ggactgagag ttacacaatc agcttccctg gttctgaggc tttcagactt aaactgagcc
     3361 atgctaccag catcccaggg tctccagcct acagatgagc tgttgtgcga tttcttagcc
     3421 tccataatca catgagccaa tctccttaat aaatgcctgc tcatagatct gtatctacat
     3481 ctatatctgt atgtgcatct atatctatgc ctatatctat atctatatca tattgatttt
     3541 gtctctctgg agaaccctga ctaataaaat gaggcatcta aaa
//
