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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 8-Dec-2018

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
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

Genomic context

See KIR2DL4 in Genome Data Viewer
Location:
19q13.42
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class Ib receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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_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)

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/Swiss-Prot
    Q99706
    Related
    ENSP00000339634.5, ENST00000345540.9
    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
    Related
    ENSP00000351988.4, ENST00000359085.8
    Conserved Domains (2) summary
    smart00410
    Location:3798
    IG_like; Immunoglobulin like
    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
    Q99706
    Conserved Domains (2) summary
    smart00410
    Location:3798
    IG_like; Immunoglobulin like
    cl11960
    Location:30119
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107300.1 Reference GRCh38.p12 PATCHES

    Range
    105244..116152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107301.1 Reference GRCh38.p12 PATCHES

    Range
    105255..116160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107302.1 Reference GRCh38.p12 PATCHES

    Range
    105208..116154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107303.1 Reference GRCh38.p12 PATCHES

    Range
    210621..221535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107304.1 Reference GRCh38.p12 PATCHES

    Range
    105229..116143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107305.1 Reference GRCh38.p12 PATCHES

    Range
    105195..116143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107306.1 Reference GRCh38.p12 PATCHES

    Range
    105018..115966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107307.1 Reference GRCh38.p12 PATCHES

    Range
    105170..116116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107309.1 Reference GRCh38.p12 PATCHES

    Range
    105208..116154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107310.1 Reference GRCh38.p12 PATCHES

    Range
    135596..146510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107313.1 Reference GRCh38.p12 PATCHES

    Range
    105170..116118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107314.1 Reference GRCh38.p12 PATCHES

    Range
    91602..102507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p12 ALT_REF_LOCI_2

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

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p12 ALT_REF_LOCI_7

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

Reference GRCh38.p12 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p12 ALT_REF_LOCI_9

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

Reference GRCh38.p12 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p12 ALT_REF_LOCI_10

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

Reference GRCh38.p12 ALT_REF_LOCI_11

Genomic

  1. NT_187637.1 Reference GRCh38.p12 ALT_REF_LOCI_11

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

Reference GRCh38.p12 ALT_REF_LOCI_12

Genomic

  1. NT_187638.1 Reference GRCh38.p12 ALT_REF_LOCI_12

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

Reference GRCh38.p12 ALT_REF_LOCI_13

Genomic

  1. NT_187639.1 Reference GRCh38.p12 ALT_REF_LOCI_13

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

Reference GRCh38.p12 ALT_REF_LOCI_14

Genomic

  1. NT_187640.1 Reference GRCh38.p12 ALT_REF_LOCI_14

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

Reference GRCh38.p12 ALT_REF_LOCI_15

Genomic

  1. NT_187641.1 Reference GRCh38.p12 ALT_REF_LOCI_15

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

Reference GRCh38.p12 ALT_REF_LOCI_16

Genomic

  1. NT_187642.1 Reference GRCh38.p12 ALT_REF_LOCI_16

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

Reference GRCh38.p12 ALT_REF_LOCI_17

Genomic

  1. NT_187643.1 Reference GRCh38.p12 ALT_REF_LOCI_17

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

Reference GRCh38.p12 ALT_REF_LOCI_18

Genomic

  1. NT_187644.1 Reference GRCh38.p12 ALT_REF_LOCI_18

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

Reference GRCh38.p12 ALT_REF_LOCI_19

Genomic

  1. NT_187645.1 Reference GRCh38.p12 ALT_REF_LOCI_19

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

Reference GRCh38.p12 ALT_REF_LOCI_20

Genomic

  1. NT_187668.1 Reference GRCh38.p12 ALT_REF_LOCI_20

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

Reference GRCh38.p12 ALT_REF_LOCI_21

Genomic

  1. NT_187669.1 Reference GRCh38.p12 ALT_REF_LOCI_21

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

Reference GRCh38.p12 ALT_REF_LOCI_22

Genomic

  1. NT_187670.1 Reference GRCh38.p12 ALT_REF_LOCI_22

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

Reference GRCh38.p12 ALT_REF_LOCI_23

Genomic

  1. NT_187671.1 Reference GRCh38.p12 ALT_REF_LOCI_23

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

Reference GRCh38.p12 ALT_REF_LOCI_24

Genomic

  1. NT_187672.1 Reference GRCh38.p12 ALT_REF_LOCI_24

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

Reference GRCh38.p12 ALT_REF_LOCI_25

Genomic

  1. NT_187673.1 Reference GRCh38.p12 ALT_REF_LOCI_25

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

Reference GRCh38.p12 ALT_REF_LOCI_26

Genomic

  1. NT_187674.1 Reference GRCh38.p12 ALT_REF_LOCI_26

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

Reference GRCh38.p12 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p12 ALT_REF_LOCI_27

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

Reference GRCh38.p12 ALT_REF_LOCI_28

Genomic

  1. NT_187676.1 Reference GRCh38.p12 ALT_REF_LOCI_28

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

Reference GRCh38.p12 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p12 ALT_REF_LOCI_29

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

Reference GRCh38.p12 ALT_REF_LOCI_30

Genomic

  1. NT_187683.1 Reference GRCh38.p12 ALT_REF_LOCI_30

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

Reference GRCh38.p12 ALT_REF_LOCI_31

Genomic

  1. NT_187684.1 Reference GRCh38.p12 ALT_REF_LOCI_31

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

Reference GRCh38.p12 ALT_REF_LOCI_32

Genomic

  1. NT_187685.1 Reference GRCh38.p12 ALT_REF_LOCI_32

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

Reference GRCh38.p12 ALT_REF_LOCI_33

Genomic

  1. NT_187686.1 Reference GRCh38.p12 ALT_REF_LOCI_33

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

Reference GRCh38.p12 ALT_REF_LOCI_34

Genomic

  1. NT_187687.1 Reference GRCh38.p12 ALT_REF_LOCI_34

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

Reference GRCh38.p12 ALT_REF_LOCI_35

Genomic

  1. NT_113949.2 Reference GRCh38.p12 ALT_REF_LOCI_35

    Range
    74867..85781 complement
    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.
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