LOCUS       NM_006737               1877 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens killer cell immunoglobulin like receptor, three Ig
            domains and long cytoplasmic tail 2 (KIR3DL2), transcript variant
            1, mRNA.
ACCESSION   NM_006737 XM_001125802
VERSION     NM_006737.4
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 1877)
  AUTHORS   Halimi,H., Mirzazadeh,S., Kalantar,K., Hajimaghsoodi,M., Ramzi,M.
            and Farjadian,S.
  TITLE     Activating KIR/HLA-I combinations as a risk factor of adult B-ALL
  JOURNAL   Hum Immunol 85 (2), 110750 (2024)
   PUBMED   38262874
  REMARK    GeneRIF: Activating KIR/HLA-I combinations as a risk factor of
            adult B-ALL.
REFERENCE   2  (bases 1 to 1877)
  AUTHORS   Vergnolle,I., Douat-Beyries,C., Boulinguez,S., Rieu,J.B.,
            Vial,J.P., Baracou,R., Boudot,S., Cazeneuve,A., Chaugne,S.,
            Durand,M., Estival,S., Lablanche,N., Nicolau-Travers,M.L.,
            Tournier,E., Lamant,L. and Vergez,F.
  TITLE     CD158k and PD-1 expressions define heterogeneous subtypes of Sezary
            syndrome
  JOURNAL   Blood Adv 6 (6), 1813-1825 (2022)
   PUBMED   34570200
  REMARK    GeneRIF: CD158k and PD-1 expressions define heterogeneous subtypes
            of Sezary syndrome.
REFERENCE   3  (bases 1 to 1877)
  AUTHORS   Chen,C., Wang,J., He,Y., Tao,S., He,J. and Zhu,F.
  TITLE     [Study of the distribution of KIR3DL2 alleles among ethnic Han
            Chinese from Zhejiang]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (6), 589-592 (2021)
   PUBMED   34096033
  REMARK    GeneRIF: [Study of the distribution of KIR3DL2 alleles among ethnic
            Han Chinese from Zhejiang].
REFERENCE   4  (bases 1 to 1877)
  AUTHORS   Hurabielle,C., Leboeuf,C., Ram-Wolff,C., Meignin,V., Rivet,J.,
            Vignon-Pennamen,M.D., Bonnafous,C., Sicard,H., Fite,C., Raffoux,E.,
            Arnulf,B., Oksenhendler,E., Sicre de Fontbrune,F., Peffault de
            Latour,R., Socie,G., Bouaziz,J.D., Lebbe,C., Bensussan,A.,
            Janin,A., Bagot,M. and Battistella,M.
  TITLE     KIR3DL2 expression in patients with adult T-cell lymphoma/leukaemia
  JOURNAL   Br J Dermatol 179 (1), 197-199 (2018)
   PUBMED   29315492
  REMARK    GeneRIF: Study found that KIR3DL2 is expressed in tissue
            tumor-infiltrating cells in the majority of patients with adult
            T-cell lymphoma/leukemia. Disease-specific survival of patients
            with KIR3DL2 expression > 50% was statistically significantly
            decreased compared with patients with KIR3DL2 expression < 5% or
            KIR3DL2 expression between 5% and 50%.
REFERENCE   5  (bases 1 to 1877)
  AUTHORS   Battistella,M., Leboeuf,C., Ram-Wolff,C., Hurabielle,C.,
            Bonnafous,C., Sicard,H., Bensussan,A., Bagot,M. and Janin,A.
  TITLE     KIR3DL2 expression in cutaneous T-cell lymphomas: expanding the
            spectrum for KIR3DL2 targeting
  JOURNAL   Blood 130 (26), 2900-2902 (2017)
   PUBMED   29089310
  REMARK    GeneRIF: results identified significant KIR3DL2 expression in all
            cutaneous T-cell lymphomas subtypes
REFERENCE   6  (bases 1 to 1877)
  AUTHORS   Pende,D., Biassoni,R., Cantoni,C., Verdiani,S., Falco,M., di
            Donato,C., Accame,L., Bottino,C., Moretta,A. and Moretta,L.
  TITLE     The natural killer cell receptor specific for HLA-A allotypes: a
            novel member of the p58/p70 family of inhibitory receptors that is
            characterized by three immunoglobulin-like domains and is expressed
            as a 140-kD disulphide-linked dimer
  JOURNAL   J Exp Med 184 (2), 505-518 (1996)
   PUBMED   8760804
REFERENCE   7  (bases 1 to 1877)
  AUTHORS   Dohring,C., Scheidegger,D., Samaridis,J., Cella,M. and Colonna,M.
  TITLE     A human killer inhibitory receptor specific for HLA-A1,2
  JOURNAL   J Immunol 156 (9), 3098-3101 (1996)
   PUBMED   8617928
REFERENCE   8  (bases 1 to 1877)
  AUTHORS   Dohring,C., Samaridis,J. and Colonna,M.
  TITLE     Alternatively spliced forms of human killer inhibitory receptors
  JOURNAL   Immunogenetics 44 (3), 227-230 (1996)
   PUBMED   8662091
REFERENCE   9  (bases 1 to 1877)
  AUTHORS   Wagtmann,N., Biassoni,R., Cantoni,C., Verdiani,S., Malnati,M.S.,
            Vitale,M., Bottino,C., Moretta,L., Moretta,A. and Long,E.O.
  TITLE     Molecular clones of the p58 NK cell receptor reveal
            immunoglobulin-related molecules with diversity in both the extra-
            and intracellular domains
  JOURNAL   Immunity 2 (5), 439-449 (1995)
   PUBMED   7749980
REFERENCE   10 (bases 1 to 1877)
  AUTHORS   Colonna,M. and Samaridis,J.
  TITLE     Cloning of immunoglobulin-superfamily members associated with HLA-C
            and HLA-B recognition by human natural killer cells
  JOURNAL   Science 268 (5209), 405-408 (1995)
   PUBMED   7716543
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF263617.1 and L41270.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006737.3.
            
            Summary: Killer cell immunoglobulin-like receptors (KIRs) are
            transmembrane glycoproteins expressed by natural killer cells and
            subsets of T cells. The KIR genes are polymorphic and highly
            homologous and they are found in a cluster on chromosome 19q13.4
            within the 1 Mb leukocyte receptor complex (LRC). The gene content
            of the KIR gene cluster varies among haplotypes, although several
            'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1,
            KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of
            extracellular immunoglobulin domains (2D or 3D) and by whether they
            have a long (L) or short (S) cytoplasmic domain. KIR proteins with
            the long cytoplasmic domain transduce inhibitory signals upon
            ligand binding via an immune tyrosine-based inhibitory motif
            (ITIM), while KIR proteins with the short cytoplasmic domain lack
            the ITIM motif and instead associate with the TYRO protein tyrosine
            kinase binding protein to transduce activating signals. The ligands
            for several KIR proteins are subsets of HLA class I molecules;
            thus, KIR proteins are thought to play an important role in
            regulation of the immune response. This gene is one of the
            'framework' loci that is present on all haplotypes. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Jun 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: L41270.1, X93595.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326321.7/ ENSP00000325525.3
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AF263617.1         1-14
            15-1877             L41270.1           1-1863
FEATURES             Location/Qualifiers
     source          1..1877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..1877
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /note="killer cell immunoglobulin like receptor, three Ig
                     domains and long cytoplasmic tail 2"
                     /db_xref="GeneID:3812"
                     /db_xref="HGNC:HGNC:6339"
                     /db_xref="MIM:604947"
     exon            1..67
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..1401
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; killer-cell immunoglobulin-like receptor;
                     killer cell immunoglobulin-like receptor 2DL2; killer Ig
                     receptor; p70 killer cell inhibitory receptor; KIR antigen
                     3DL2; p70 NK receptor CL-5; MHC class I NK cell receptor;
                     CD158 antigen-like family member K; natural
                     killer-associated transcript 4; killer cell
                     immunoglobulin-like receptor 3DL2; p70 natural killer cell
                     receptor clone CL-5; killer cell immunoglobulin-like
                     receptor, three domains, long cytoplasmic tail, 2"
                     /codon_start=1
                     /product="killer cell immunoglobulin-like receptor 3DL2
                     isoform 1 precursor"
                     /protein_id="NP_006728.2"
                     /db_xref="CCDS:CCDS12906.1"
                     /db_xref="GeneID:3812"
                     /db_xref="HGNC:HGNC:6339"
                     /db_xref="MIM:604947"
                     /translation="MSLTVVSMACVGFFLLQGAWPLMGGQDKPFLSARPSTVVPRGGH
                     VALQCHYRRGFNNFMLYKEDRSHVPIFHGRIFQESFIMGPVTPAHAGTYRCRGSRPHS
                     LTGWSAPSNPLVIMVTGNHRKPSLLAHPGPLLKSGETVILQCWSDVMFEHFFLHREGI
                     SEDPSRLVGQIHDGVSKANFSIGPLMPVLAGTYRCYGSVPHSPYQLSAPSDPLDIVIT
                     GLYEKPSLSAQPGPTVQAGENVTLSCSSWSSYDIYHLSREGEAHERRLRAVPKVNRTF
                     QADFPLGPATHGGTYRCFGSFRALPCVWSNSSDPLLVSVTGNPSSSWPSPTEPSSKSG
                     ICRHLHVLIGTSVVIFLFILLLFFLLYRWCSNKKNAAVMDQEPAGDRTVNRQDSDEQD
                     PQEVTYAQLDHCVFIQRKISRPSQRPKTPLTDTSVYTELPNAEPRSKVVSCPRAPQSG
                     LEGVF"
     exon            68..103
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            104..388
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            389..688
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            689..982
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1033
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1138
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1191
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1877
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1858..1863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /note="hexamer: AATAAA"
     polyA_site      1877
                     /gene="KIR3DL2"
                     /gene_synonym="3DL2; CD158K; KIR-3DL2; NKAT-4; NKAT4;
                     NKAT4B; p140"
                     /note="major polyA site"
ORIGIN      
        1 ggggcgcggc ctcctgtctg caccggcagc accatgtcgc tcacggtcgt cagcatggcg
       61 tgcgttgggt tcttcttgct gcagggggcc tggccactca tgggtggtca ggacaaaccc
      121 ttcctgtctg cccggcccag cactgtggtg cctcgaggag gacacgtggc tcttcagtgt
      181 cactatcgtc gtgggtttaa caatttcatg ctgtacaaag aagacagaag ccacgttccc
      241 atcttccacg gcagaatatt ccaggagagc ttcatcatgg gccctgtgac cccagcacat
      301 gcagggacct acagatgtcg gggttcacgc ccacactccc tcactgggtg gtcggcaccc
      361 agcaaccccc tggtgatcat ggtcacagga aaccacagaa aaccttccct cctggcccac
      421 ccagggcccc tgctgaaatc aggagagaca gtcatcctgc aatgttggtc agatgtcatg
      481 tttgagcact tctttctgca cagagagggg atctctgagg acccctcacg cctcgttgga
      541 cagatccatg atggggtctc caaggccaac ttctccatcg gtcccttgat gcctgtcctt
      601 gcaggaacct acagatgtta tggttctgtt cctcactccc cctatcagtt gtcagctccc
      661 agtgaccccc tggacatcgt gatcacaggt ctatatgaga aaccttctct ctcagcccag
      721 ccgggcccca cggttcaggc aggagagaac gtgaccttgt cctgtagctc ctggagctcc
      781 tatgacatct accatctgtc cagggaaggg gaggcccatg aacgtaggct ccgtgcagtg
      841 cccaaggtca acagaacatt ccaggcagac tttcctctgg gccctgccac ccacggaggg
      901 acctacagat gcttcggctc tttccgtgcc ctgccctgcg tgtggtcaaa ctcaagtgac
      961 ccactgcttg tttctgtcac aggaaaccct tcaagtagtt ggccttcacc cacagaacca
     1021 agctccaaat ctggtatctg cagacacctg catgttctga ttgggacctc agtggtcatc
     1081 ttcctcttca tcctcctcct cttctttctc ctttatcgct ggtgctccaa caaaaagaat
     1141 gctgctgtaa tggaccaaga gcctgcgggg gacagaacag tgaataggca ggactctgat
     1201 gaacaagacc ctcaggaggt gacgtacgca cagttggatc actgcgtttt catacagaga
     1261 aaaatcagtc gcccttctca gaggcccaag acacccctaa cagataccag cgtgtacacg
     1321 gaacttccaa atgctgagcc cagatccaaa gttgtctcct gcccacgagc accacagtca
     1381 ggtcttgagg gggttttcta gggagacaac agccctgtct caaaaccagg ttgccagatc
     1441 caatgaacca gcagctggaa tctgaaggca tcagtctgca tcttagggga tcgctcttcc
     1501 tcacaccacg aatctgaaca tgcctctctc ttgcttacaa atgcctaagg tcgccactgc
     1561 ctgctgcaga gaaaacacac tcctttgctt agcccacaag tatctatttc acttgacccc
     1621 tgcccacctc tccaacctaa ctggcttact tcctagtcct acttgaggct gcaatcacac
     1681 tgaggaactc acaattccaa acatacaaga ggctccctct taacacggca cttacacact
     1741 tgctgttcca ccttccctca tgctgttcca cctcccctca gactatcttt cagccttctg
     1801 tcatcagtaa aatttataaa ttttttttat aacttcagtg tagctctctc ctcttcaaat
     1861 aaacatgtct gccctca
//
