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    KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 [ Homo sapiens (human) ]

    Gene ID: 3805, updated on 27-Jun-2015
    Official Symbol
    KIR2DL4provided by HGNC
    Official Full Name
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4provided by HGNC
    Primary source
    HGNC:HGNC:6332
    See related
    Ensembl:ENSG00000189013; HPRD:16082; MIM:604945; Vega:OTTHUMG00000065880
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G9P; CD158D; KIR103; KIR103AS; KIR-103AS
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Orthologs
    See KIR2DL4 in Epigenomics, MapViewer
    Location:
    19q13.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (54803612..54814517)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55304500..55325972)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928804 Neighboring gene killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Neighboring gene uncharacterized LOC102724300 Neighboring gene killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Neighboring gene killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Neighboring gene killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    killer cell immunoglobulin-like receptor 2DL4
    Names
    killer cell immunoglobulin-like receptor 2DL4
    CD158 antigen-like family member D
    MHC class I NK cell receptor KIR103AS
    NK cell receptor
    killer Ig receptor
    killer cell inhibitory receptor 103AS
    natural killer cell inhibitory receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005994.1 

      Range
      124068..134982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080770.1NP_001074239.1  killer cell immunoglobulin-like receptor 2DL4 isoform c precursor

      Status: REVIEWED

      Description
      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 1.
      Source sequence(s)
      BC028137, BC041611
      Consensus CDS
      CCDS42619.1
      UniProtKB/Swiss-Prot
      Q99706
      Related
      ENSP00000339634, OTTHUMP00000068611, ENST00000345540, OTTHUMT00000141138
      Conserved Domains (2) summary
      smart00408
      Location:43104
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:30119
      Ig; Immunoglobulin domain
    2. NM_001080772.1NP_001074241.1  killer cell immunoglobulin-like receptor 2DL4 isoform b precursor

      See identical proteins and their annotated locations for NP_001074241.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is one nt shorter than variant 1. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC028137, BC041611
      Consensus CDS
      CCDS42620.1
      UniProtKB/TrEMBL
      A0A0B4J1S6
      Related
      ENSP00000351988, OTTHUMP00000068610, ENST00000359085, OTTHUMT00000141136
      Conserved Domains (2) summary
      smart00408
      Location:43104
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:30119
      Ig; Immunoglobulin domain
    3. NM_002255.5NP_002246.5  killer cell immunoglobulin-like receptor 2DL4 isoform a precursor

      See identical proteins and their annotated locations for NP_002246.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC028137, BC041611
      UniProtKB/Swiss-Prot
      Q99706
      Conserved Domains (2) summary
      smart00408
      Location:43104
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:30119
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

      Range
      54803612..54814517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p2 ALT_REF_LOCI_2

      Range
      421468..432382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p2 ALT_REF_LOCI_7

      Range
      707934..718882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p2 ALT_REF_LOCI_9

      Range
      786181..797086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p2 ALT_REF_LOCI_10

      Range
      88224..99138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p2 ALT_REF_LOCI_11

      Range
      54292..65238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p2 ALT_REF_LOCI_12

      Range
      54497..65405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p2 ALT_REF_LOCI_13

      Range
      54860..65808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p2 ALT_REF_LOCI_14

      Range
      43688..54596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p2 ALT_REF_LOCI_15

      Range
      93900..104814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p2 ALT_REF_LOCI_16

      Range
      52989..63937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p2 ALT_REF_LOCI_17

      Range
      54551..65499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p2 ALT_REF_LOCI_18

      Range
      81938..92852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p2 ALT_REF_LOCI_19

      Range
      54566..65514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p2 ALT_REF_LOCI_20

      Range
      44454..55400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p2 ALT_REF_LOCI_21

      Range
      54551..65499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p2 ALT_REF_LOCI_22

      Range
      82011..92925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p2 ALT_REF_LOCI_23

      Range
      82511..93459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p2 ALT_REF_LOCI_24

      Range
      105166..116149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p2 ALT_REF_LOCI_25

      Range
      54561..65466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p2 ALT_REF_LOCI_26

      Range
      90440..101388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p2 ALT_REF_LOCI_27

      Range
      146613..157527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p2 ALT_REF_LOCI_28

      Range
      79511..90459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p2 ALT_REF_LOCI_29

      Range
      80978..91883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p2 ALT_REF_LOCI_30

      Range
      77776..88724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p2 ALT_REF_LOCI_31

      Range
      54367..65274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p2 ALT_REF_LOCI_32

      Range
      54043..64991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p2 ALT_REF_LOCI_33

      Range
      54893..65839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p2 ALT_REF_LOCI_34

      Range
      54387..65293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p2 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p2 ALT_REF_LOCI_35

      Range
      74867..85781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      55308632..55319537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001258383.1: Suppressed sequence

      Description
      NM_001258383.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.