LOCUS       NM_001281971            1583 bp    mRNA    linear   PRI 25-SEP-2024
DEFINITION  Homo sapiens killer cell immunoglobulin like receptor, two Ig
            domains and short cytoplasmic tail 4 (gene/pseudogene) (KIR2DS4),
            transcript variant 2 (KIR2DS4*003 allele), mRNA.
ACCESSION   NM_001281971
VERSION     NM_001281971.2
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 1583)
  AUTHORS   Shiravani,Z., Mirshekari,K., Larki,M.H., Shafiee,N.,
            Haghshenas,M.R., Ghaderi,A. and Fattahi,M.J.
  TITLE     Evaluation of the genetic diversity of KIR genes in patients with
            endometrial cancer
  JOURNAL   J Reprod Immunol 162, 104217 (2024)
   PUBMED   38387251
  REMARK    GeneRIF: Evaluation of the genetic diversity of KIR genes in
            patients with endometrial cancer.
REFERENCE   2  (bases 1 to 1583)
  AUTHORS   Gowdavally,S., Tsamadou,C., Platzbecker,U., Sala,E., Valerius,T.,
            Klein,S., Kroger,N., Wulf,G., Einsele,H., Thurner,L.,
            Schaefer-Eckart,K., Freitag,S., Casper,J., Durholt,M., Kaufmann,M.,
            Hertenstein,B., Ringhoffer,M., Schmeller,S., Neuchel,C., Rode,I.,
            Amann,E.M., Richter,A., Schrezenmeier,H., Mytilineos,J. and
            Fuerst,D.
  TITLE     KIR2DS4 and Its Variant KIR1D in KIR-AA Genotype Donors Showed
            Differential Survival Impact in Patients with Lymphoid Disease
            after HLA-Matched Unrelated Hematopoietic Stem Cell Transplantation
  JOURNAL   Transplant Cell Ther 29 (7), 457 (2023)
   PUBMED   37150297
  REMARK    GeneRIF: KIR2DS4 and Its Variant KIR1D in KIR-AA Genotype Donors
            Showed Differential Survival Impact in Patients with Lymphoid
            Disease after HLA-Matched Unrelated Hematopoietic Stem Cell
            Transplantation.
REFERENCE   3  (bases 1 to 1583)
  AUTHORS   Hajeer,A., Jawdat,D., Massadeh,S., Aljawini,N., Abedalthagafi,M.S.,
            Arabi,Y.M. and Alaamery,M.
  TITLE     Association of KIR gene polymorphisms with COVID-19 disease
  JOURNAL   Clin Immunol 234, 108911 (2022)
   PUBMED   34929414
  REMARK    GeneRIF: Association of KIR gene polymorphisms with COVID-19
            disease.
REFERENCE   4  (bases 1 to 1583)
  AUTHORS   An,K., Li,B., Luo,C., Wang,J., Luo,C. and Chen,J.
  TITLE     The impact of donor full-length KIR2DS4 in the development of acute
            and chronic GVHD after unrelated allogeneic HSCT
  JOURNAL   Pediatr Transplant 24 (6), e13728 (2020)
   PUBMED   32594584
  REMARK    GeneRIF: The impact of donor full-length KIR2DS4 in the development
            of acute and chronic GVHD after unrelated allogeneic HSCT.
REFERENCE   5  (bases 1 to 1583)
  AUTHORS   Merino,A., Malhotra,R., Morton,M., Mulenga,J., Allen,S., Hunter,E.,
            Tang,J. and Kaslow,R.A.
  TITLE     Impact of a functional KIR2DS4 allele on heterosexual HIV-1
            transmission among discordant Zambian couples
  JOURNAL   J Infect Dis 203 (4), 487-495 (2011)
   PUBMED   21216870
  REMARK    GeneRIF: KIR2DS4*001, the only allele of KIR2DS4 known to encode a
            functional activating receptor, was associated with relatively high
            viral load for HIV-1 and with accelerated transmission of HIV-1 to
            cohabiting seronegative partners.
REFERENCE   6  (bases 1 to 1583)
  AUTHORS   Middleton,D., Gonzalez,A. and Gilmore,P.M.
  TITLE     Studies on the expression of the deleted KIR2DS4*003 gene product
            and distribution of KIR2DS4 deleted and nondeleted versions in
            different populations
  JOURNAL   Hum Immunol 68 (2), 128-134 (2007)
   PUBMED   17321903
REFERENCE   7  (bases 1 to 1583)
  AUTHORS   Kim,J., Chwae,Y.J., Kim,M.Y., Choi,I.H., Park,J.H. and Kim,S.J.
  TITLE     Molecular basis of HLA-C recognition by p58 natural killer cell
            inhibitory receptors
  JOURNAL   J Immunol 159 (8), 3875-3882 (1997)
   PUBMED   9378975
REFERENCE   8  (bases 1 to 1583)
  AUTHORS   Bottino,C., Sivori,S., Vitale,M., Cantoni,C., Falco,M., Pende,D.,
            Morelli,L., Augugliaro,R., Semenzato,G., Biassoni,R., Moretta,L.
            and Moretta,A.
  TITLE     A novel surface molecule homologous to the p58/p50 family of
            receptors is selectively expressed on a subset of human natural
            killer cells and induces both triggering of cell functions and
            proliferation
  JOURNAL   Eur J Immunol 26 (8), 1816-1824 (1996)
   PUBMED   8765026
REFERENCE   9  (bases 1 to 1583)
  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   10 (bases 1 to 1583)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245128.3.
            
            On Nov 23, 2018 this sequence version replaced NM_001281971.1.
            
            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. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) represents the 22nt deletion
            allele KIR2DS4*003 which results in a frameshift and loss of the
            C-terminal membrane binding domain. The resulting protein (isoform
            2) has a distinct C-teminus and is likely secreted.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: U24077.1, AY388472.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: PMID: 17321903
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AC245128.3         134331-134422
            93-128              AC245128.3         136703-136738
            129-428             AC245128.3         139200-139499
            429-700             AC245128.3         141052-141323
            701-751             AC245128.3         144492-144542
            752-856             AC245128.3         148808-148912
            857-909             AC245128.3         149375-149427
            910-1583            AC245128.3         149526-150199
FEATURES             Location/Qualifiers
     source          1..1583
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..1583
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /note="killer cell immunoglobulin like receptor, two Ig
                     domains and short cytoplasmic tail 4 (gene/pseudogene)"
                     /db_xref="GeneID:3809"
                     /db_xref="HGNC:HGNC:6336"
                     /db_xref="MIM:604955"
     exon            1..92
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..778
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2 (KIR2DS4*003 allele); killer cell
                     immunoglobulin-like receptor 2DS4; killer inhibitory
                     receptor 4-1-2; KIR antigen 2DS4; p50 killer cell
                     activating receptor KAR-K1d; killer cell
                     immunoglobulin-like receptor, two domains, short
                     cytoplasmic tail, 4; p58 NK receptor CL-39/CL-17; CD158
                     antigen-like family member I; natural killer-associated
                     transcript 8; P58 natural killer cell receptor clones
                     CL-39/CL-17"
                     /codon_start=1
                     /product="killer cell immunoglobulin-like receptor 2DS4
                     isoform 2 precursor"
                     /protein_id="NP_001268900.1"
                     /db_xref="GeneID:3809"
                     /db_xref="HGNC:HGNC:6336"
                     /db_xref="MIM:604955"
                     /translation="MSLMVIIMACVGFFLLQGAWPQEGVHRKPSFLALPGHLVKSEET
                     VILQCWSDVMFEHFLLHREGKFNNTLHLIGEHHDGVSKANFSIGPMMPVLAGTYRCYG
                     SVPHSPYQLSAPSDPLDMVIIGLYEKPSLSAQPGPTVQAGENVTLSCSSIYPGKGRPM
                     NVGSLQCAASTEHSRPTFLWALPPTEGPTDASALSVTLPTSGQTRVIHCLFPSQETLQ
                     IVGLHPLNQAPKPVTPDTYMF"
     exon            93..128
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            129..428
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            429..700
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            701..751
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            752..856
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            857..909
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1583
                     /gene="KIR2DS4"
                     /gene_synonym="CD158I; KIR-2DS4; KIR1D; KIR412; KKA3;
                     NKAT-8; NKAT8"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atcctgtgcg ctgctgagct gagctggggc gcggccgcct gtctgcaccg gcagcaccat
       61 gtcgctcatg gtcatcatca tggcgtgtgt tgggttcttc ttgctgcagg gggcctggcc
      121 acaggaggga gtccacagaa aaccttcctt cctggccctc ccaggtcacc tggtgaaatc
      181 agaagagaca gtcatcctgc aatgttggtc ggatgtcatg tttgagcact tccttctgca
      241 cagagagggg aagtttaaca acactttgca cctcattgga gagcaccatg atggggtttc
      301 caaggccaac ttctccattg gtcccatgat gcctgtcctt gcaggaacct acagatgcta
      361 cggttctgtt cctcactccc cctatcagtt gtcagctccc agtgaccctc tggacatggt
      421 gatcataggt ctatatgaga aaccttctct ctcagcccag ccgggcccca cggttcaggc
      481 aggagagaat gtgaccttgt cctgcagctc catctatcca gggaagggga ggcccatgaa
      541 cgtaggctcc ctgcagtgcg cagcatcaac ggaacattcc aggccgactt tcctctgggc
      601 cctgccaccc acggagggac ctacagatgc ttcggctctt tccgtgacgc tccctacgag
      661 tggtcaaact cgagtgatcc actgcttgtt tccgtcacag gaaacccttc aaatagttgg
      721 ccttcaccca ctgaaccaag ctccaaaacc ggtaacccca gacacctaca tgttctgatt
      781 gggacctcag tggtcaaaat ccctttcacc atcctcctct tctttctcct tcatcgctgg
      841 tgctccgaca aaaaaaatgc tgctgtaatg gaccaagagc ctgcagggaa cagaacagtg
      901 aacagcgagg attctgatga acaagaccat caggaggtgt catacgcata attggatcac
      961 tgtgttttca cacagagaaa aatcactcgc ccttctgaga ggcccaagac acccccaaca
     1021 gataccagca tgtacataga acttccaaat gctgagccca gatccaaagt tgtcttctgt
     1081 ccacgagcac cacagtcagg ccttgagggg atcttctagg gagacaacag ccctgtctca
     1141 aaaccgggtt gccagctccc atgtaccagc agctggaatc tgaaggcatc agtcttcatc
     1201 ttagggcatc gctcttcctc acaccacgaa tctgaacatg cctctctctt gcttacaaat
     1261 gtctaaggtc cccactgcct gctggagaga aaacacactc ctttgcttag cccacaattc
     1321 tccatttcac ttgacccctg cccacctctc caacctaact ggcttacttc ctagtctacc
     1381 tgaggctgca atcacactga ggaactcaca attccaaaca tacaagaggc tgcctcttaa
     1441 cacagcactt agacacgtgc tgttccacct cccttcagac tatctttcag ccttctgcca
     1501 gcagtaaaac ttataaattt tttaaataat ttcaatgtag ttttcccgcc ttcaaataaa
     1561 catgtctgcc ctcatggttt cgg
//
