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

    Gene ID: 3805, updated on 9-Dec-2024

    Summary

    Official Symbol
    KIR2DL4provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4provided by HGNC
    Primary source
    HGNC:HGNC:6332
    See related
    Ensembl:ENSG00000189013 MIM:604945; AllianceGenome:HGNC:6332
    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; KIR-2DL4; 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. 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]
    Expression
    Biased expression in spleen (RPKM 1.3), endometrium (RPKM 0.5) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIR2DL4 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54803610..54814517)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57897871..57908821)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55315065..55325972)

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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    killer cell immunoglobulin-like receptor 2DL4
    Names
    CD158 antigen-like family member D
    KIR2DL4 Killer-cell Immunoglobulin-like Receptor
    KIR2DL4*00102
    KIR2DL4*00103
    KIR2DL4*00501
    KIR2DL4*00801
    KIR2DL4*00802
    KIR2DL4*01101
    KIR2DL4*021
    KIR2DL4*022
    KIR2DL4_00201
    KIR2DL4_00201 protein
    MHC class I NK cell receptor KIR103AS
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
    killer cell inhibitory receptor 103AS

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001080770.2NP_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 a.
      Source sequence(s)
      AC245128, BC028137, BC041611
      Consensus CDS
      CCDS42619.1
      UniProtKB/TrEMBL
      A0A0G2JNE8, A0A0G2JPE3, A0A376A929
      Related
      ENSP00000339634.5, ENST00000345540.10
      Conserved Domains (1) summary
      cl11960
      Location:30119
      Ig; Immunoglobulin domain
    2. NM_001080772.2NP_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)
      AC245128, BC028137, BC041611
      Consensus CDS
      CCDS42620.1
      UniProtKB/TrEMBL
      A0A0B4J1S6, A0A1W2PQ98, A0A7D5C391, K7RE46
      Related
      ENSP00000351988.4, ENST00000359085.8
      Conserved Domains (2) summary
      cd00096
      Location:3135
      Ig; Ig strand A [structural motif]
      cl11960
      Location:30119
      Ig; Immunoglobulin domain
    3. NM_002255.6NP_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)
      AC245128, BC028137, BC041611
      UniProtKB/Swiss-Prot
      A8W795, O14621, O14622, O14623, O14624, O43534, P78400, P78401, Q8N738, Q99559, Q99560, Q99561, Q99562, Q99706, Q9UQJ7
      UniProtKB/TrEMBL
      A0A0C4ZR19, A0A6G6CZ72, K7QUS9, K7QUT1
      Conserved Domains (2) summary
      smart00410
      Location:3798
      IG_like; Immunoglobulin like
      cl11960
      Location:30119
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54803610..54814517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107300.1 Reference GRCh38.p14 PATCHES

      Range
      105242..116152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107301.1 Reference GRCh38.p14 PATCHES

      Range
      105253..116160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107302.1 Reference GRCh38.p14 PATCHES

      Range
      105206..116154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107304.1 Reference GRCh38.p14 PATCHES

      Range
      105227..116143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107305.1 Reference GRCh38.p14 PATCHES

      Range
      105193..116143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107306.1 Reference GRCh38.p14 PATCHES

      Range
      105016..115966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107307.1 Reference GRCh38.p14 PATCHES

      Range
      105168..116116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107309.1 Reference GRCh38.p14 PATCHES

      Range
      105206..116154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107310.1 Reference GRCh38.p14 PATCHES

      Range
      135594..146510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107313.1 Reference GRCh38.p14 PATCHES

      Range
      105168..116118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107314.1 Reference GRCh38.p14 PATCHES

      Range
      91600..102507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      421466..432382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      707932..718882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      786179..797086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      88224..99140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p14 ALT_REF_LOCI_11

      Range
      54292..65240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

      Range
      54497..65407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p14 ALT_REF_LOCI_13

      Range
      54860..65810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

      Range
      43688..54598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

      Range
      93900..104816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

      Range
      52989..63939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p14 ALT_REF_LOCI_17

      Range
      54551..65501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      81938..92854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p14 ALT_REF_LOCI_19

      Range
      54566..65516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      44454..55402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p14 ALT_REF_LOCI_21

      Range
      54551..65501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      82011..92927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p14 ALT_REF_LOCI_23

      Range
      82509..93459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p14 ALT_REF_LOCI_24

      Range
      105164..116149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p14 ALT_REF_LOCI_25

      Range
      54561..65468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p14 ALT_REF_LOCI_26

      Range
      90438..101388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      146611..157527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p14 ALT_REF_LOCI_28

      Range
      79509..90459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

      Range
      80976..91883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p14 ALT_REF_LOCI_30

      Range
      77774..88724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

      Range
      54367..65276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p14 ALT_REF_LOCI_32

      Range
      54043..64993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      54893..65841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p14 ALT_REF_LOCI_34

      Range
      54387..65295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      74867..85783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57897871..57908821
      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.