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KIR2DS4 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 [ Homo sapiens (human) ]

Gene ID: 3809, updated on 11-Jun-2021

Summary

Official Symbol
KIR2DS4provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4provided by HGNC
Primary source
HGNC:HGNC:6336
See related
Ensembl:ENSG00000221957 MIM:604955
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
KKA3; KIR1D; NKAT8; CD158I; KIR412; NKAT-8; KIR-2DS4
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See KIR2DS4 in Genome Data Viewer
Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54832707..54848575)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55344162..55360030)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 Neighboring gene RNA, U6 small nuclear 222, 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

Related articles in PubMed

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

Homology

Clone Names

  • MGC120019, MGC125315, MGC125317

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class Ib protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in innate immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
killer cell immunoglobulin-like receptor 2DS4
Names
CD158 antigen-like family member I
KIR antigen 2DS4
P58 natural killer cell receptor clones CL-39/CL-17
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
killer inhibitory receptor 4-1-2
natural killer-associated transcript 8
p50 killer cell activating receptor KAR-K1d
p58 NK receptor CL-39/CL-17

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001281971.2NP_001268900.1  killer cell immunoglobulin-like receptor 2DS4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001268900.1

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AC245128
    UniProtKB/Swiss-Prot
    P43632
    UniProtKB/TrEMBL
    A0A0C4ZN30, Q8NHJ0
    Related
    ENSP00000340011.8, ENST00000339924.12
    Conserved Domains (3) summary
    cl28612
    Location:96236
    PHA03128; dUTPase; Provisional
    cd00096
    Location:2933
    Ig; Ig strand A [structural motif]
    cl11960
    Location:28122
    Ig; Immunoglobulin domain
  2. NM_001281972.2NP_001268901.1  killer cell immunoglobulin-like receptor 2DS4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001268901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents a 22nt deletion allele which also lacks a coding exon. The resulting protein (isoform 3) is frameshifted and lacks the C-terminal membrane binding domain found in the functional allele (KRI2DS4*001).
    Source sequence(s)
    AC245128
    UniProtKB/Swiss-Prot
    P43632
    UniProtKB/TrEMBL
    A0A1W2PR63, Q86VI6
    Related
    ENSP00000375609.1, ENST00000391729.1
    Conserved Domains (2) summary
    cd05711
    Location:28122
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cl11960
    Location:128151
    Ig; Immunoglobulin domain
  3. NM_012314.6NP_036446.3  killer cell immunoglobulin-like receptor 2DS4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_036446.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the functional allele (KIR2DS4*001) and encodes a functional, membrane-bound, activating receptor (isoform 1).
    Source sequence(s)
    GU182342
    UniProtKB/Swiss-Prot
    P43632
    UniProtKB/TrEMBL
    A0A0C4ZN05
    Conserved Domains (3) summary
    cd00096
    Location:129133
    Ig; Ig strand A [structural motif]
    cd05711
    Location:28122
    IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
    cl11960
    Location:128216
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54832707..54848575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p13 PATCHES

    Range
    134363..150018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p13 PATCHES

    Range
    134350..150218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p13 PATCHES

    Range
    134345..150212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p13 PATCHES

    Range
    134336..150226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p13 PATCHES

    Range
    134160..149171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p13 PATCHES

    Range
    134307..150174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p13 PATCHES

    Range
    134345..150212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107313.1 Reference GRCh38.p13 PATCHES

    Range
    134312..150202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_016107314.1 Reference GRCh38.p13 PATCHES

    Range
    120697..136565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    812586..828454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    819633..830497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    737076..752966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    815276..831144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_11

Genomic

  1. NT_187637.1 Reference GRCh38.p13 ALT_REF_LOCI_11

    Range
    20234..36101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_12

Genomic

  1. NT_187638.1 Reference GRCh38.p13 ALT_REF_LOCI_12

    Range
    20630..36302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_13

Genomic

  1. NT_187639.1 Reference GRCh38.p13 ALT_REF_LOCI_13

    Range
    20776..36666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_14

Genomic

  1. NT_187640.1 Reference GRCh38.p13 ALT_REF_LOCI_14

    Range
    10257..25493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_16

Genomic

  1. NT_187642.1 Reference GRCh38.p13 ALT_REF_LOCI_16

    Range
    20341..34795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_17

Genomic

  1. NT_187643.1 Reference GRCh38.p13 ALT_REF_LOCI_17

    Range
    20467..36357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_19

Genomic

  1. NT_187645.1 Reference GRCh38.p13 ALT_REF_LOCI_19

    Range
    20481..36372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_20

Genomic

  1. NT_187668.1 Reference GRCh38.p13 ALT_REF_LOCI_20

    Range
    10396..26263 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_21

Genomic

  1. NT_187669.1 Reference GRCh38.p13 ALT_REF_LOCI_21

    Range
    20467..36357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_23

Genomic

  1. NT_187671.1 Reference GRCh38.p13 ALT_REF_LOCI_23

    Range
    111653..127543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_25

Genomic

  1. NT_187673.1 Reference GRCh38.p13 ALT_REF_LOCI_25

    Range
    20503..36371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_26

Genomic

  1. NT_187674.1 Reference GRCh38.p13 ALT_REF_LOCI_26

    Range
    119582..134593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_28

Genomic

  1. NT_187676.1 Reference GRCh38.p13 ALT_REF_LOCI_28

    Range
    108653..124518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p13 ALT_REF_LOCI_29

    Range
    110073..125941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_30

Genomic

  1. NT_187683.1 Reference GRCh38.p13 ALT_REF_LOCI_30

    Range
    106919..122809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_31

Genomic

  1. NT_187684.1 Reference GRCh38.p13 ALT_REF_LOCI_31

    Range
    20485..36159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_32

Genomic

  1. NT_187685.1 Reference GRCh38.p13 ALT_REF_LOCI_32

    Range
    20840..35851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_33

Genomic

  1. NT_187686.1 Reference GRCh38.p13 ALT_REF_LOCI_33

    Range
    20835..36702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_34

Genomic

  1. NT_187687.1 Reference GRCh38.p13 ALT_REF_LOCI_34

    Range
    20482..36177 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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