LOCUS       NM_017694               4796 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens major facilitator superfamily domain containing 6
            (MFSD6), transcript variant 2, mRNA.
ACCESSION   NM_017694
VERSION     NM_017694.4
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 4796)
  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   2  (bases 1 to 4796)
  AUTHORS   Docherty,S.J., Kovas,Y. and Plomin,R.
  TITLE     Gene-environment interaction in the etiology of mathematical
            ability using SNP sets
  JOURNAL   Behav Genet 41 (1), 141-154 (2011)
   PUBMED   20978832
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, and gene-environment interaction. (HuGE Navigator)
REFERENCE   3  (bases 1 to 4796)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 4796)
  AUTHORS   Shimizu,T., Tashiro-Yamaji,J., Hayashi,M., Inoue,Y., Ibata,M.,
            Kubota,T., Tanigawa,N. and Yoshida,R.
  TITLE     HLA-B62 as a possible ligand for the human homologue of mouse
            macrophage MHC receptor 2 (MMR2) on monocytes
  JOURNAL   Gene 454 (1-2), 31-38 (2010)
   PUBMED   20123006
REFERENCE   5  (bases 1 to 4796)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127176.1, AC092178.4 and AC093388.4.
            
            On Nov 22, 2018 this sequence version replaced NM_017694.3.
            
            Transcript Variant: This variant (2), as well as variants 1, 3, and
            4, encodes isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127176.1, SRR1660803.214498.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392328.6/ ENSP00000376141.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                AK127176.1         1-69
            70-70               AC092178.4         144929-144929
            71-936              AK127176.1         71-936
            937-1083            AC093388.4         8848-8994
            1084-3420           AK127176.1         1084-3420
            3421-4796           AC093388.4         73145-74520
FEATURES             Location/Qualifiers
     source          1..4796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..4796
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /note="major facilitator superfamily domain containing 6"
                     /db_xref="GeneID:54842"
                     /db_xref="HGNC:HGNC:24711"
                     /db_xref="MIM:613476"
     exon            1..149
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            150..271
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            272..1856
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..2700
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /note="isoform a is encoded by transcript variant 2; major
                     facilitator superfamily domain-containing protein 6;
                     macrophage MHC receptor 2; macrophage MHC class I receptor
                     2 homolog"
                     /codon_start=1
                     /product="major facilitator superfamily domain-containing
                     protein 6 isoform a"
                     /protein_id="NP_060164.3"
                     /db_xref="CCDS:CCDS2306.1"
                     /db_xref="GeneID:54842"
                     /db_xref="HGNC:HGNC:24711"
                     /db_xref="MIM:613476"
                     /translation="MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSST
                     ETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLPVYYKQLGMSPSQ
                     SGLLVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCV
                     PKIRPTTHPTNASHQLTILPTNSSFTSFLTISPKMREKRNLLETRLNVSDTVTLPTAP
                     NMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSLPSDQVM
                     LVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLG
                     WGLAMLSVGIGIDYTHIEVLIDGKGCKPPEYRNYQIVFIVFGVLMTMALIVATQFRFR
                     YNHFKNDDSKGKEVEIPQVERNNSTESSEETPTTTSHSQAFNFWDLIKLLCSVQYGSV
                     LFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIG
                     HIRVLYIGLACNTARYIYISYLENAWTVLPMEVLQGVTHAAIWAACISYLSAAVPPEL
                     RTSAQGILQGLHLGLGRGCGAMIGGVLVNYFGAAATFRGIGMACLVILLLFALIQWLA
                     VPDEEEDKTMLAERIPVPSSPVPIATIDLVQQQTEDVMPRIEPRLPPKKTKHQEEQED
                     VNKPAWGVSSSPWVTFVYALYQIKEMMQLTRDNRASEIQPLQGTNENRENSPAGRAQP
                     VPCETHSDPSRNQPSPDAAASQTQTSPAHPSVDPCTEESEEQQAQLAAGGH"
     exon            1857..1954
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2116
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2215
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            2216..2496
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     exon            2497..4796
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4542..4547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /note="hexamer: AATGAA"
     polyA_site      4560
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /note="major polyA site"
     regulatory      4775..4780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
                     /note="hexamer: ATTAAA"
     polyA_site      4796
                     /gene="MFSD6"
                     /gene_synonym="hMMR2; MMR2; SLC73A1"
ORIGIN      
        1 gtcgcagccc cggaggagcg cgcgagcagc ccgggatggt gcgcgctgcc ccgacagccg
       61 ccgccccggc gccccgagcc gccgccccgt gctccgggga cagggctccc cgcgccccgc
      121 gcagctgagc gctgccgccg ccgcagcaga caggatctct ctcagttacc caggccggag
      181 tgcagtggcg tgatcctagc tcactgcagc cttgaacccc tgggctcaag tgattctcct
      241 gccttggcct cctgaatagc tagaactaca gatcaacagt acaaattctg aagtttgtaa
      301 acttgctgat ggtggtggta agccatggca gatgataaag ttgctatctt aacggatgat
      361 gaagaggaac agaagagaaa gtatgtgctt gcagatccct ttaatggtat ttccagggaa
      421 ccagaaccac cttcgaatga aacaccttcc tccacagaaa catctgctat tcctgaggag
      481 gaaatagact ggatagagaa acattgtgtt aagataaaca acgatcttct aatttccaag
      541 gtcttttatt ttttctttta ctctgcctat ggctctctct atcccctttt gcctgtgtat
      601 tacaaacagc tgggaatgtc tccaagccag agtggactac tagtaggtat tcgttacttc
      661 attgaattct gcagtgcccc cttttggggt gtagttgcag accgctttaa aaaaggcaaa
      721 attgtcctcc tcttttctct tttgtgttgg gttttattca acctgggcat tggatttgtc
      781 aaacctgcta ccttgagatg tgtaccaaag attcgcccaa caactcaccc caccaatgca
      841 agtcaccagt taactatcct gccaacaaat tcttccttta cctctttcct caccatatca
      901 ccaaaaatgc gtgagaaaag aaaccttttg gaaacaaggc tcaatgtctc agacaccgtt
      961 actttgccaa cagctccaaa catgaacagt gaacccactc tgcagcccca gacaggtgaa
     1021 attactaacc gtatgatgga cttgactttg aactcaagca cagcaacccc tgtctcccca
     1081 ggaagcgtaa ccaaggagac aaccactgtt attgttacca ccaccaaatc tttaccttct
     1141 gaccaagtca tgcttgttta tgatcaacaa gaagttgaag ctatattctt ggtgatcttg
     1201 gtagttgtca taataggaga atttttcagt gcctcttctg tcacaatcgt agacacggtc
     1261 acactccagt atctgggaaa acacagagat cgctatgggt tgcagcgcat gtggggctcc
     1321 ctgggctggg gcctggcgat gctgtctgtg ggcatcggga tcgactacac ccacatcgaa
     1381 gtgctcatcg atggaaaggg gtgtaagccc cccgagtaca ggaattacca gatcgtcttc
     1441 atcgtcttcg gcgttctcat gaccatggcc ttgatcgttg ccactcagtt ccggttccgc
     1501 tacaaccatt tcaaaaacga tgattctaaa gggaaagagg tggagatccc gcaggtggaa
     1561 aggaacaact ctacagagtc ctctgaggag acaccaacca ccacaagcca ctcgcaggcc
     1621 ttcaactttt gggacttaat caagctgctc tgcagcgtgc agtatggctc agtgctgttt
     1681 gtggcttggt tcatgggttt tggatatggc ttcgtgttca cctttctcta ctggcatttg
     1741 gaagacctca atggaactac aaccctcttt ggggtctgtt cagtcctgag tcatgtgtct
     1801 gagctgacag catatttttt tagtcacaag cttattgaat tgatcggcca catcagggtt
     1861 ctgtacattg gcctggcctg caatacggct cgctatattt atatttccta cctggagaat
     1921 gcctggactg ttctccccat ggaagttctt caaggagtga cacacgcggc catctgggca
     1981 gcatgcattt cttacctcag tgcagccgtt ccccctgagc tgaggacatc tgctcagggc
     2041 atcctgcagg gccttcacct gggtttggga agaggatgtg gtgccatgat cggaggcgtg
     2101 ttagtcaatt attttggggc tgctgcaacc ttccgaggaa ttggcatggc ctgcttggtg
     2161 atcctactgc tctttgccct gatccagtgg ctggcagtgc cagatgagga agaagacaag
     2221 acaatgttgg cagaaagaat tcctgttccc tccagtcccg ttcctatagc aaccatcgac
     2281 ttggtacagc aacagacaga agatgtcatg ccacgcattg agcccagact tccacccaag
     2341 aaaactaagc accaggaaga acaggaagat gtgaacaaac cagcctgggg agtcagctct
     2401 tctccctggg tgacctttgt ctatgcactc taccaaatta aagagatgat gcaactcaca
     2461 agagacaacc gtgcttctga gatacagcct ttacagggga ccaatgagaa tagggaaaat
     2521 tctcctgctg gtagagccca gcctgtccca tgtgagactc actctgaccc atctagaaac
     2581 cagccatccc ctgacgcagc agcatctcag acgcagacca gccccgctca ccccagtgtg
     2641 gacccgtgca cagaggagag tgaagagcag caggctcagc tggccgcggg aggacactga
     2701 gggcatcctg ctcatctcac accctgcatg gaatcaggct cctcagccag gacacagggt
     2761 gaggcccccc agccaggata tgcctcccct ggaggagcac agcactgcat atgcttctaa
     2821 atatctaaac tcattaacat ggaaacacac acacaggagc tacagtacat attggcagga
     2881 aaaggtaaac tttcgtaatc tcattggaat tacaacaggg aaatggagtt caatgaggac
     2941 tttcagttct ttgcttggtt aggttaagga tgatagaatt tctctgccag tgcagtaaga
     3001 gttgaaaccg gcagttacac taagtaagtg gagggaatga aagtgtttcg aggtgaatgt
     3061 ggatataatt tccctcttct gattatttat tcttatttgg ttcctaacac aaactgggaa
     3121 gagatagaat tcatctatac tttctttttt cttggagaga accgtttaaa aaattacaag
     3181 atatatttaa aaagtaacca gataaaagta gcacatgtgc ttttgttaaa aataaagtta
     3241 aaagttaaag ttaaaaaatg aagttaaaag tttcatcaga aactttacat atctttagca
     3301 aatatatttt tatatgtgta tggcatataa tggaaataat tctttgagca acagaagcta
     3361 ttattaacta ctgcaagcta agccgagctt aaaaatgcct tttgttttaa atgggctttg
     3421 agaaaaaaaa cagaaacaag cgattatttc aaatcaacca accaactcag tatcctgtgt
     3481 tttgatagac aagagtttac taaatatatt gatactgtaa atagcctctc tcgctattta
     3541 ctatcttata gtaattcagg ctctaattag ctgagggaat gaaacacaca aaaatcactg
     3601 aattcctaag agttccttaa ataagcagta ctagttacaa atcacagtat aagatttaag
     3661 tgcctggggg aaggatacaa tttttagaaa ttacatattg ggtcagtttt gttttgtttt
     3721 tggtgaggaa aaggtggtaa ataggaaacc atgaatggga aggatggcaa taagtagcaa
     3781 ctatactttc caatgactaa agaaagaaaa tctcagtata ttcgttctca tgaagacaca
     3841 gtcagacact ggacaatgta atgtatgcaa ctgcaaacgt tacaactgca gccagaacaa
     3901 tggctgggtg gatcgcacgt aaagcttgcc actaaaaatc aaagcagagg ttaacaggaa
     3961 acctgggggg agtgtggaaa agggaaaact gttttagctg aataaaggtg aattatataa
     4021 tttataatag ctgtggatga gcacaggaga gagaggaaag aaaagaacag tcgaaatgag
     4081 caactcacct taccctctga ccctgattag acaggatcaa ttgtaaagtg agggcttctc
     4141 catgacacca tagttctgcc caatactgca tttgggataa gaaattctac acttggatgt
     4201 ctcgcttcac aataaaacac agcttaaaaa taaaataact gaaagaaata gaattcagca
     4261 aatagttatt ttttgcactt gaactgaaac gtactgtact gtaaattatg actcatttta
     4321 agtgaccttt aaaatcagat gtatttatta tgcttgtgta attatagaaa taaagaaatg
     4381 ggtgacaggc ttaacctcac ctatgaatgt acagtatgtg gatttgtgaa actgactgta
     4441 ggaagtcaaa aacttgtact gtatcttgtg tttacagttc tgatttattc ctttgaaaag
     4501 cctgctgttt tggaaatgca cagttgacat gttgaaataa aaatgaatac catttttaaa
     4561 tgtttcttaa atgataaaga tgtgaccaaa caaaagtcct atactctaat gaatgagacc
     4621 aaattcaaca tgcctttgtt atggaacatt tactgtgaca gcagaatcga taatgcagtc
     4681 atttccagcc ttgtgagctg acaccttcat gggtttgtgg actttgtgac tttttcttcc
     4741 tgtccccaaa gtgccatatg ctaccttaaa aaatattaaa gtgaattcaa attaca
//
