LOCUS       NM_001080770            1477 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens killer cell immunoglobulin like receptor, two Ig
            domains and long cytoplasmic tail 4 (KIR2DL4), transcript variant
            3, mRNA.
ACCESSION   NM_001080770
VERSION     NM_001080770.2
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 1477)
  AUTHORS   Alves,E., Chopra,A., Ram,R., Currenti,J., Kalams,S.A., Mallal,S.A.,
            Phillips,E.J. and Gaudieri,S.
  TITLE     Underrepresentation of activating KIR gene expression in
            single-cell RNA-seq data is due to KIR gene misassignment
  JOURNAL   Eur J Immunol 54 (1), e2350590 (2024)
   PUBMED   37944995
  REMARK    GeneRIF: Underrepresentation of activating KIR gene expression in
            single-cell RNA-seq data is due to KIR gene misassignment.
REFERENCE   2  (bases 1 to 1477)
  AUTHORS   Feng,Z., Huang,P., Zhang,J., Xia,X., Zhang,A.M., Zeng,T., Chen,Q.,
            Zhu,C., Tan,W., Zhang,Y. and Yue,M.
  TITLE     KIR2DL4/HLA-G polymorphisms were associated with HCV infection
            susceptibility among Chinese high-risk population
  JOURNAL   J Med Virol 95 (3), e28645 (2023)
   PUBMED   36890645
  REMARK    GeneRIF: KIR2DL4/HLA-G polymorphisms were associated with HCV
            infection susceptibility among Chinese high-risk population.
REFERENCE   3  (bases 1 to 1477)
  AUTHORS   Mao,R., Ren,Z., Yang,F., Yang,P. and Zhang,T.
  TITLE     Clinical significance and immune landscape of KIR2DL4 and the
            senescence-based signature in cutaneous melanoma
  JOURNAL   Cancer Sci 113 (11), 3947-3959 (2022)
   PUBMED   35848898
  REMARK    GeneRIF: Clinical significance and immune landscape of KIR2DL4 and
            the senescence-based signature in cutaneous melanoma.
REFERENCE   4  (bases 1 to 1477)
  AUTHORS   Ding,X.F., Chen,J., Ma,H.L., Liang,Y., Wang,Y.F., Zhang,H.T., Li,X.
            and Chen,G.
  TITLE     KIR2DL4 promotes the proliferation of RCC cell associated with
            PI3K/Akt signaling activation
  JOURNAL   Life Sci 293, 120320 (2022)
   PUBMED   35063466
  REMARK    GeneRIF: KIR2DL4 promotes the proliferation of RCC cell associated
            with PI3K/Akt signaling activation.
REFERENCE   5  (bases 1 to 1477)
  AUTHORS   Zheng,G., Jia,L. and Yang,A.G.
  TITLE     Roles of HLA-G/KIR2DL4 in Breast Cancer Immune Microenvironment
  JOURNAL   Front Immunol 13, 791975 (2022)
   PUBMED   35185887
  REMARK    GeneRIF: Roles of HLA-G/KIR2DL4 in Breast Cancer Immune
            Microenvironment.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1477)
  AUTHORS   Uhrberg,M., Valiante,N.M., Shum,B.P., Shilling,H.G.,
            Lienert-Weidenbach,K., Corliss,B., Tyan,D., Lanier,L.L. and
            Parham,P.
  TITLE     Human diversity in killer cell inhibitory receptor genes
  JOURNAL   Immunity 7 (6), 753-763 (1997)
   PUBMED   9430221
REFERENCE   7  (bases 1 to 1477)
  AUTHORS   Valiante,N.M., Uhrberg,M., Shilling,H.G., Lienert-Weidenbach,K.,
            Arnett,K.L., D'Andrea,A., Phillips,J.H., Lanier,L.L. and Parham,P.
  TITLE     Functionally and structurally distinct NK cell receptor repertoires
            in the peripheral blood of two human donors
  JOURNAL   Immunity 7 (6), 739-751 (1997)
   PUBMED   9430220
REFERENCE   8  (bases 1 to 1477)
  AUTHORS   Selvakumar,A., Steffens,U., Palanisamy,N., Chaganti,R.S. and
            Dupont,B.
  TITLE     Genomic organization and allelic polymorphism of the human killer
            cell inhibitory receptor gene KIR103
  JOURNAL   Tissue Antigens 49 (6), 564-573 (1997)
   PUBMED   9234477
REFERENCE   9  (bases 1 to 1477)
  AUTHORS   Selvakumar,A., Steffens,U. and Dupont,B.
  TITLE     Polymorphism and domain variability of human killer cell inhibitory
            receptors
  JOURNAL   Immunol Rev 155, 183-196 (1997)
   PUBMED   9059894
  REMARK    Review article
REFERENCE   10 (bases 1 to 1477)
  AUTHORS   Selvakumar,A., Steffens,U. and Dupont,B.
  TITLE     NK cell receptor gene of the KIR family with two IG domains but
            highest homology to KIR receptors with three IG domains
  JOURNAL   Tissue Antigens 48 (4 Pt 1), 285-294 (1996)
   PUBMED   8946682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245128.3, BC041611.1 and
            BC028137.1.
            
            On Oct 31, 2018 this sequence version replaced NM_001080770.1.
            
            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. Alternate
            alleles of this gene are represented on multiple alternate
            reference loci (ALT_REF_LOCs). Alternative splicing results in
            multiple transcript variants, some of which may not be annotated on
            the primary reference assembly. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (3) lacks an internal exon in the
            coding region, compared to variant 1. It encodes isoform c, which
            is shorter than isoform a.
            
            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 :: AF002980.1, LS974092.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345540.10/ ENSP00000339634.5
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC245128.3         105234-105235
            3-453               BC041611.1         2-452
            454-748             BC028137.1         439-733
            749-1477            BC028137.1         838-1566
FEATURES             Location/Qualifiers
     source          1..1477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..1477
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /note="killer cell immunoglobulin like receptor, two Ig
                     domains and long cytoplasmic tail 4"
                     /db_xref="GeneID:3805"
                     /db_xref="HGNC:HGNC:6332"
                     /db_xref="MIM:604945"
     exon            1..82
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1071
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /note="isoform c precursor is encoded by transcript
                     variant 3; CD158 antigen-like family member D; MHC class I
                     NK cell receptor KIR103AS; killer cell inhibitory receptor
                     103AS; killer cell immunoglobulin-like receptor, two
                     domains, long cytoplasmic tail, 4; KIR2DL4*00802;
                     KIR2DL4*00103; KIR2DL4*00102; KIR2DL4*00501;
                     KIR2DL4*01101; KIR2DL4*00801; KIR2DL4_00201; KIR2DL4
                     Killer-cell Immunoglobulin-like Receptor; KIR2DL4_00201
                     protein; killer cell immunoglobulin-like receptor 2DL4;
                     KIR2DL4*022; KIR2DL4*021"
                     /codon_start=1
                     /product="killer cell immunoglobulin-like receptor 2DL4
                     isoform c precursor"
                     /protein_id="NP_001074239.1"
                     /db_xref="CCDS:CCDS42619.1"
                     /db_xref="GeneID:3805"
                     /db_xref="HGNC:HGNC:6332"
                     /db_xref="MIM:604945"
                     /translation="MSMSPTVIILACLGFFLDQSVWAHVGGQDKPFCSAWPSAVVPQG
                     GHVTLRCHYRRGFNIFTLYKKDGVPVPELYNRIFWNSFLISPVTPAHAGTYRCRGFHP
                     HSPTEWSAPSNPLVIMVTGLYEKPSLTARPGPTVRAGENVTLSCSSQSSFDIYHLSRE
                     GEAHELRLPAVPSINGTFQADFPLGPATHGETYRCFGSFHGSPYEWSDPSDPLPVSVT
                     GNPSSSWPSPTEPSFKTDAAVMNQEPAGHRTVNREDSDEQDPQEVTYAQLDHCIFTQR
                     KITGPSQRSKRPSTDTSVCIELPNAEPRALSPAHEHHSQALMGSSRETTALSQTQLAS
                     SNVPAAGI"
     exon            83..118
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     exon            119..403
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     exon            404..697
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     exon            698..748
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     exon            749..801
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     exon            802..1477
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1458..1463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /note="hexamer: AATAAA"
     polyA_site      1477
                     /gene="KIR2DL4"
                     /gene_synonym="CD158D; G9P; KIR-103AS; KIR-2DL4; KIR103;
                     KIR103AS"
                     /note="major polyA site"
ORIGIN      
        1 agtcgagccg agtcactgcg tcctggcagc agaagctgca ccatgtccat gtcacccacg
       61 gtcatcatcc tggcatgtct tgggttcttc ttggaccaga gtgtgtgggc acacgtgggt
      121 ggtcaggaca agcccttctg ctctgcctgg cccagcgctg tggtgcctca aggaggacac
      181 gtgactcttc ggtgtcacta tcgtcgtggg tttaacatct tcacgctgta caagaaagat
      241 ggggtccctg tccctgagct ctacaacaga atattctgga acagtttcct cattagccct
      301 gtgaccccag cacacgcagg gacctacaga tgtcgaggtt ttcacccgca ctcccccact
      361 gagtggtcgg cacccagcaa ccccctggtg atcatggtca caggtctata tgagaaacct
      421 tcgcttacag cccggccggg ccccacggtt cgcgcaggag agaacgtgac cttgtcctgc
      481 agctcccaga gctcctttga catctaccat ctatccaggg agggggaagc ccatgaactt
      541 aggctccctg cagtgcccag catcaatgga acattccagg ccgacttccc tctgggtcct
      601 gccacccacg gagagaccta cagatgcttc ggctctttcc atggatctcc ctacgagtgg
      661 tcagacccga gtgacccact gcctgtttct gtcacaggaa acccttctag tagttggcct
      721 tcacccactg aaccaagctt caaaactgat gctgctgtaa tgaaccaaga gcctgcggga
      781 cacagaacag tgaacaggga ggactctgat gaacaagacc ctcaggaggt gacatacgca
      841 cagttggatc actgcatttt cacacagaga aaaatcactg gcccttctca gaggagcaag
      901 agaccctcaa cagataccag cgtgtgtata gaacttccaa atgctgagcc cagagcgttg
      961 tctcctgccc atgagcacca cagtcaggcc ttgatgggat cttctaggga gacaacagcc
     1021 ctgtctcaaa cccagcttgc cagctctaat gtaccagcag ctggaatctg aaggcgtgag
     1081 tctccatctt agagcatcac tcttcctcac accacaaatc tggtgcctgt ctcttgctta
     1141 ccaatgtcta aggtccccac tgcctgctgc agagaaaaca cactcctttg cttagcccac
     1201 aattctctat ttcacttgac ccctgcccac ctctccaacc taactggctt acttcctagt
     1261 ctacttgagg ctgcaatcac actgaggaac tcacaattcc aaacatacaa gaggctctct
     1321 cttaacacgg cacttagaca cgtgctgttc caccttccct cgtgctgttc cacctttcct
     1381 cagactattt ttcagccttc tggcatcagc aaaccttata aaattttttt gatttcagtg
     1441 tagttctctc ctcttcaaat aaacatgtct gccttca
//
