2025-05-09 18:42:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001197238 1820 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 4, mRNA. ACCESSION NM_001197238 VERSION NM_001197238.1 GI:308522747 KEYWORDS RefSeq. 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 1820) 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 2 (bases 1 to 1820) 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 3 (bases 1 to 1820) 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 4 (bases 1 to 1820) 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 5 (bases 1 to 1820) 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 6 (bases 1 to 1820) 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 BP234194.1, BC017497.1 and BC013258.2. 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 (4) lacks an alternate segment in the 3' region compared to variant 1, resulting in a shorter isoform (c) with distinct C-terminus, compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: BC017497.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-108 BP234194.1 1-108 109-1355 BC017497.1 1-1247 1356-1356 BC013258.2 2728-2728 1357-1820 BC017497.1 1249-1712 FEATURES Location/Qualifiers source 1..1820 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p22.1" gene 1..1820 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="butyrophilin, subfamily 2, member A2" /db_xref="GeneID:10385" /db_xref="HGNC:1137" /db_xref="MIM:613591" exon 1..204 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" variation 63 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:9461249" variation 136 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:9467741" misc_feature 151..153 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="upstream in-frame stop codon" variation 200 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="c" /db_xref="dbSNP:375893732" variation 201..202 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="" /replace="ag" /db_xref="dbSNP:3832422" exon 205..328 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" CDS 235..1245 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="isoform c precursor is encoded by transcript variant 4; butyrophilin 2" /codon_start=1 /product="butyrophilin subfamily 2 member A2 isoform c precursor" /protein_id="NP_001184167.1" /db_xref="GI:308522748" /db_xref="CCDS:CCDS56401.1" /db_xref="GeneID:10385" /db_xref="HGNC:1137" /db_xref="MIM:613591" /translation="
MEPAAALHFSLPASLLLLLLLLLLSLCALVSAQFTVVGPANPILAMVGENTTLRCHLSPEKNAEDMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRITFVSKDINRGSVALVIHNVTAQENGIYRCYFQEGRSYDEAILRLVVAGLGSKPLIEIKAQEDGSIWLECISGGWYPEPLTVWRDPYGEVVPALKEVSIADADGLFMVTTAVIIRDKYVRNVSCSVNNTLLGQEKETVIFIPESFMPSASPWMVALAVILTASPWMVSMTVILAVFIIFMAVSICCIKKLQREKKILSGEKKVEQEEKEIAQQLQEELRWRRTFLHADVNLTGLRNT
" sig_peptide 235..330 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 331..1242 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /product="butyrophilin subfamily 2 member A2 isoform c" misc_feature 331..672 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="Immunoglobulin V-set domain; Region: V-set; pfam07686" /db_xref="CDD:203725" misc_feature 376..675 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG); Region: Ig_MOG_like; cd05713" /db_xref="CDD:143190" misc_feature order(424..429,484..486,517..519,628..630,634..651) /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="antigen binding site; other site" /db_xref="CDD:143190" misc_feature 688..936 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /note="Immunoglobulin domain; Region: Ig; cl11960" /db_xref="CDD:213125" misc_feature 1030..1092 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8WVV5.2); transmembrane region" variation 240 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:375369181" variation 242 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:202213069" variation 245 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:73736234" variation 273 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="c" /db_xref="dbSNP:147636357" variation 291 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:115247877" exon 329..676 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" variation 342 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:138070617" variation 343 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:143653188" variation 349 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="g" /db_xref="dbSNP:57038103" variation 394 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:370867259" variation 411 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:150302333" variation 412 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:181037825" variation 439 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:375285642" variation 440 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:368009368" variation 475 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="g" /replace="t" /db_xref="dbSNP:372237219" variation 477 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:376950043" variation 497 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:376558792" variation 522 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:112257227" variation 523 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:367692328" variation 524 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:144702884" variation 560 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:149453161" variation 561 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:377645117" variation 588 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:143017993" variation 646 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:146154371" variation 662 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:201687793" exon 677..958 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" variation 736 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="g" /db_xref="dbSNP:369291221" variation 750 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:142411775" variation 789 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="g" /db_xref="dbSNP:76088803" variation 792 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="c" /db_xref="dbSNP:200834687" variation 808 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:144410497" variation 816 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:372854548" variation 826 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:200036284" variation 829 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:201605260" variation 833 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:139541725" variation 841 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:62617839" variation 861 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:370196656" variation 899 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:145439434" variation 918 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:201008184" variation 922 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:200096466" variation 925 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:373346354" variation 956 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:201995913" exon 959..1165 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" variation 962 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="c" /db_xref="dbSNP:375385023" variation 1021 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:369920399" variation 1033 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="g" /replace="t" /db_xref="dbSNP:113893469" variation 1034 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:373492069" variation 1042 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="g" /db_xref="dbSNP:147003451" variation 1165 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="g" /db_xref="dbSNP:201972159" exon 1166..1186 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" exon 1187..1213 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" exon 1214..1790 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /inference="alignment:Splign:1.39.8" variation 1220 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="t" /db_xref="dbSNP:113353347" variation 1261 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:72500812" variation 1415 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:59001682" variation 1449 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="c" /replace="t" /db_xref="dbSNP:73387026" variation 1722 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" /replace="a" /replace="g" /db_xref="dbSNP:189684950" polyA_signal 1770..1775 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" polyA_site 1790 /gene="BTN2A2" /gene_synonym="BT2.2; BTF2" ORIGIN
agtggaaatcttgggactttttggacacccagagaacaggtcccagataccgagtccgcaactccaaacatcgcgattaataggaggtgaacacagcttttctcttctctttgggatgctttgttgtctggtggtgactgtgcccatgggtgagttgtatcggaaaatcgtcatgtgaggatcagaggggaaaagaaaacagaggcctctggtctctgcctgccctgggtgctcatggaaccagctgctgctctgcacttctccctgccagcctccctcctcctcctcctgctcctcctccttctcagcctgtgtgcactggtctcagcccagtttactgtcgtggggccagctaatcccatcctggccatggtgggagaaaacactacattacgctgccatctgtcacccgagaaaaatgctgaggacatggaggtgcggtggttccggtctcagttctcccccgcagtgtttgtgtataagggtgggagagagagaacagaggagcagatggaggagtaccggggaagaatcacctttgtgagcaaagacatcaacaggggcagcgtggccctggtcatacataacgtcacagcccaggagaatgggatctaccgctgttacttccaagaaggcaggtcctacgatgaggccatcctacgcctcgtggtggcaggccttgggtctaagcccctcattgaaatcaaggcccaagaggatgggagcatctggctggagtgcatatctggagggtggtacccagagcccctcacagtgtggagggacccctacggtgaggttgtgcccgccctgaaggaggtttccatcgctgatgctgacggcctcttcatggtcaccacagctgtgatcatcagagacaagtatgtgaggaatgtgtcctgctctgtcaacaacaccctgctcggccaggagaaggaaactgtcatttttattccagaatcctttatgcccagcgcatctccctggatggtggccctagctgtcatcctgaccgcatctccctggatggtgtccatgactgtcatcctggctgttttcatcatcttcatggctgtcagcatctgttgcatcaagaaacttcaaagggaaaaaaagattctgtcaggggaaaagaaagttgaacaagaggaaaaagaaattgcacagcaacttcaagaagaattgcgatggagaagaacattcttacatgctgatgtcaacctgactggattaaggaatacctagacagctggtacaacattatttctgggtgtgtctgtgagtgtgtttccagaagagattggcaagtgagtcagtgggaaattctctccttctgttggctgggtgcccaatacaacaaaaaggcagaggaaaggcaaattcttctctcctctggagctgagacactcttcttcttctgcccttggacatcagaactcctggctctccggcctttgaacttcaggacttgtaccaggaggccctgggttctcaggcctttggctttggactgagagttacacaatcagcttccctggttctgaggctttcagacttaaactgagccatgctaccagcatcccagggtctccagcctacagatgagctgttgtgcgatttcttagcctccataatcacatgagccaatctccttaataaatgcctgctcatagatctgtatctacatctatatctgtatgtgcatctatatctatgcctatatctatatctatatcatattgattttgtctctctggagaaccctgactaataaaatgaggcatctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10385 -> Biological process: GO:0031324 [negative regulation of cellular metabolic process] evidence: ISS GeneID:10385 -> Biological process: GO:0046007 [negative regulation of activated T cell proliferation] evidence: ISS GeneID:10385 -> Biological process: GO:0050710 [negative regulation of cytokine secretion] evidence: ISS GeneID:10385 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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