LOCUS       NM_053003               2269 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens sialic acid binding Ig like lectin 12 (SIGLEC12),
            transcript variant 1, mRNA.
ACCESSION   NM_053003
VERSION     NM_053003.4
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 2269)
  AUTHORS   Cuello,H.A., Sinha,S., Verhagen,A.L., Varki,N., Varki,A. and
            Ghosh,P.
  TITLE     Human-specific elimination of epithelial Siglec-XII suppresses the
            risk of inflammation-driven colorectal cancers
  JOURNAL   JCI Insight 9 (16), e181539 (2024)
   PUBMED   38990656
  REMARK    GeneRIF: Human-specific elimination of epithelial Siglec-XII
            suppresses the risk of inflammation-driven colorectal cancers.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2269)
  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 2269)
  AUTHORS   McDonough,C.W., Gong,Y., Padmanabhan,S., Burkley,B., Langaee,T.Y.,
            Melander,O., Pepine,C.J., Dominiczak,A.F., Cooper-Dehoff,R.M. and
            Johnson,J.A.
  TITLE     Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12,
            A1BG, and the selectin region and cardiovascular outcomes
  JOURNAL   Hypertension 62 (1), 48-54 (2013)
   PUBMED   23690342
  REMARK    GeneRIF: cardiovascular outcomes may differ based on SIGLEC12
            genotype, and antihypertensive treatment strategy.
REFERENCE   4  (bases 1 to 2269)
  AUTHORS   Mitra,N., Banda,K., Altheide,T.K., Schaffer,L., Johnson-Pais,T.L.,
            Beuten,J., Leach,R.J., Angata,T., Varki,N. and Varki,A.
  TITLE     SIGLEC12, a human-specific segregating (pseudo)gene, encodes a
            signaling molecule expressed in prostate carcinomas
  JOURNAL   J Biol Chem 286 (26), 23003-23011 (2011)
   PUBMED   21555517
  REMARK    GeneRIF: SIGLEC12, a human-specific segregating (pseudo)gene,
            encodes a signaling molecule expressed in prostate carcinomas.
REFERENCE   5  (bases 1 to 2269)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 2269)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2269)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2269)
  AUTHORS   Angata,T., Varki,N.M. and Varki,A.
  TITLE     A second uniquely human mutation affecting sialic acid biology
  JOURNAL   J Biol Chem 276 (43), 40282-40287 (2001)
   PUBMED   11546777
REFERENCE   9  (bases 1 to 2269)
  AUTHORS   Yu,Z., Lai,C.M., Maoui,M., Banville,D. and Shen,S.H.
  TITLE     Identification and characterization of S2V, a novel putative siglec
            that contains two V set Ig-like domains and recruits
            protein-tyrosine phosphatases SHPs
  JOURNAL   J Biol Chem 276 (26), 23816-23824 (2001)
   PUBMED   11328818
REFERENCE   10 (bases 1 to 2269)
  AUTHORS   Foussias,G., Taylor,S.M., Yousef,G.M., Tropak,M.B., Ordon,M.H. and
            Diamandis,E.P.
  TITLE     Cloning and molecular characterization of two splice variants of a
            new putative member of the Siglec-3-like subgroup of Siglecs
  JOURNAL   Biochem Biophys Res Commun 284 (4), 887-899 (2001)
   PUBMED   11409877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020914.9, DA562082.1,
            BC035809.1 and AY358140.1.
            
            On May 17, 2019 this sequence version replaced NM_053003.3.
            
            Summary: Sialic acid-binding immunoglobulin-like lectins (SIGLECs)
            are a family of cell surface proteins belonging to the
            immunoglobulin superfamily. They mediate protein-carbohydrate
            interactions by selectively binding to different sialic acid
            moieties present on glycolipids and glycoproteins. This gene
            encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members
            of this subfamily are characterized by an extracellular V-set
            immunoglobulin-like domain followed by two C2-set
            immunoglobulin-like domains, and the cytoplasmic tyrosine-based
            motifs ITIM and SLAM-like. The encoded protein, upon tyrosine
            phosphorylation, has been shown to recruit the Src homology 2
            domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It
            has been suggested that the protein is involved in the negative
            regulation of macrophage signaling by functioning as an inhibitory
            receptor. This gene is located in a cluster with other SIGLEC3-like
            genes on 19q13.4. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1), also known as SLG-Long
            (SLG-L), encodes the longest isoform (a). Unlike other members of
            the SIGLEC3-like subfamily, which contain only one V-set
            immunoglobin-like domain, isoform a contains two. This variant uses
            the same exon combination as variant 3 but represents the allele
            encoded by the GRCh38 reference genome.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358140.1, BC035809.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291707.8/ ENSP00000291707.3
            polymorphic pseudogene :: PMID: 21555517
            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
            1-11                AC020914.9         70021-70031         c
            12-14               DA562082.1         1-3
            15-2132             BC035809.1         1-2118
            2133-2269           AY358140.1         2080-2216
FEATURES             Location/Qualifiers
     source          1..2269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..2269
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /note="sialic acid binding Ig like lectin 12"
                     /db_xref="GeneID:89858"
                     /db_xref="HGNC:HGNC:15482"
                     /db_xref="MIM:606094"
     exon            1..494
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1855
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; SIGLEC-like 1; sialic acid-binding Ig-like
                     lectin-like 1"
                     /codon_start=1
                     /product="sialic acid-binding Ig-like lectin 12 isoform a
                     precursor"
                     /protein_id="NP_443729.1"
                     /db_xref="CCDS:CCDS12833.1"
                     /db_xref="GeneID:89858"
                     /db_xref="HGNC:HGNC:15482"
                     /db_xref="MIM:606094"
                     /translation="MLLLLLLLPPLLCGRVGAKEQKDYLLTMQKSVTVQEGLCVSVLC
                     SFSYPQNGWTASDPVHGYWFRAGDHVSRNIPVATNNPARAVQEETRDRFHLLGDPQNK
                     DCTLSIRDTRESDAGTYVFCVERGNMKWNYKYDQLSVNVTASQDLLSRYRLEVPESVT
                     VQEGLCVSVPCSVLYPHYNWTASSPVYGSWFKEGADIPWDIPVATNTPSGKVQEDTHG
                     RFLLLGDPQTNNCSLSIRDARKGDSGKYYFQVERGSRKWNYIYDKLSVHVTALTHMPT
                     FSIPGTLESGHPRNLTCSVPWACEQGTPPTITWMGASVSSLDPTITRSSMLSLIPQPQ
                     DHGTSLTCQVTLPGAGVTMTRAVRLNISYPPQNLTMTVFQGDGTASTTLRNGSALSVL
                     EGQSLHLVCAVDSNPPARLSWTWGSLTLSPSQSSNLGVLELPRVHVKDEGEFTCRAQN
                     PLGSQHISLSLSLQNEYTGKMRPISGVTLGAFGGAGATALVFLYFCIIFVVVRSCRKK
                     SARPAVGVGDTGMEDANAVRGSASQGPLIESPADDSPPHHAPPALATPSPEEGEIQYA
                     SLSFHKARPQYPQEQEAIGYEYSEINIPK"
     exon            495..875
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1154
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1202
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1472
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1569
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1666
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..2269
                     /gene="SIGLEC12"
                     /gene_synonym="S2V; Siglec-XII; SIGLECL1; SLG"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agttcctgag agaagaaccc tgaggaacag acttacctca gcaaccctgg cacctccaac
       61 ccgacacatg ctactgctgc tgctactgct gccacccctg ctctgtggga gagtgggggc
      121 taaggaacag aaggattacc tgctgacaat gcagaagtcc gtgacggtgc aggagggcct
      181 gtgtgtctct gtgctttgct ccttctccta cccccaaaat ggctggactg cctccgatcc
      241 agttcatggc tactggttcc gggcagggga ccatgtaagc cggaacattc cagtggccac
      301 aaacaaccca gctcgagcag tgcaggagga gactcgggac cgattccacc tccttgggga
      361 cccacagaac aaggattgta ccctgagcat cagagacacc agagagagtg atgcagggac
      421 atacgtcttt tgtgtagaga gaggaaatat gaaatggaat tataaatatg accagctctc
      481 tgtgaatgtg acagcgtccc aggacctact gtcaagatac aggctggagg tgccagagtc
      541 ggtgactgtg caggagggtc tgtgtgtctc tgtgccctgc agtgtccttt acccccatta
      601 caactggact gcctctagcc ctgtttatgg atcctggttc aaggaagggg ccgatatacc
      661 atgggatatt ccagtggcca caaacacccc aagtggaaaa gtgcaagagg atacccacgg
      721 tcgattcctc ctccttgggg acccacagac caacaactgc tccctgagca tcagagatgc
      781 caggaagggg gattcaggga agtactactt ccaggtggag agaggaagca ggaaatggaa
      841 ctacatatat gacaagctct ctgtgcatgt gacagccctg actcacatgc ccaccttctc
      901 catcccgggg accctggagt ctggccaccc caggaacctg acctgctctg tgccctgggc
      961 ctgtgaacag gggacgcccc ccacgatcac ctggatgggg gcctccgtgt cctccctgga
     1021 ccccactatc actcgctcct cgatgctcag cctcatccca cagccccagg accatggcac
     1081 cagcctcacc tgtcaggtga ccttgcctgg ggccggcgtg accatgacca gggctgtccg
     1141 actcaacata tcctatcctc ctcagaactt gaccatgact gtcttccaag gagatggcac
     1201 agcatccaca accttgagga atggctcggc cctttcagtc ctggagggcc agtccctgca
     1261 ccttgtctgt gctgtcgaca gcaatccccc tgccaggctg agctggacct gggggagcct
     1321 gaccctgagc ccctcacagt cctcgaacct tggggtgctg gagctgcctc gagtgcatgt
     1381 gaaggatgaa ggggaattca cctgccgagc tcagaaccct ctaggctccc agcacatttc
     1441 cctgagcctc tccctgcaaa acgagtacac aggcaaaatg aggcctatat caggagtgac
     1501 gctaggggca ttcgggggag ctggagccac agccctggtc ttcctgtact tctgcatcat
     1561 cttcgttgta gtgaggtcct gcaggaagaa atcggcaagg ccagcagtgg gcgtggggga
     1621 tacaggcatg gaggacgcaa acgctgtcag gggctcagcc tctcagggac ccctgattga
     1681 atccccggca gatgacagcc ccccacacca tgctccgcca gccctggcca ccccctcccc
     1741 agaggaagga gagatccagt atgcatccct cagcttccac aaagcgaggc ctcagtaccc
     1801 acaggaacag gaggccatcg gctatgagta ctccgagatc aacatcccca agtgagaaac
     1861 tgcagagact caggcctgtt tgagggctca cgacccctgc agcaaagaag cccgagactg
     1921 attcctttag aattaacagc cctccatgct gtgcaacagg acatcagaac ttattcctct
     1981 tgtcaaactg aaaatgcgtg cctgatgacc aaactctccc tttctccatc caatcggtcc
     2041 acactccccg cccccggcct ctggtaccca ccattctctt ctctacttct ctgaggtcga
     2101 ctattttagg ttccaaatat agtgagatcg tagagtgttt gtctctctgt acctggctta
     2161 tttcactcaa cataatgttc tctaggttca tccgtgttgt tccaaataac agaataatgt
     2221 attgaatatt tcaaaatggc taaaagagag gagtttaaat gttgtcacc
//
