Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Killer cell immunoglobulin-like receptor 2DL4

Gene

KIR2DL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.

GO - Molecular functioni

  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  • cellular defense response Source: ProtInc
  • regulation of immune response Source: Reactome
  • signal transduction Source: ProtInc

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
SIGNORiQ99706.

Names & Taxonomyi

Protein namesi
Recommended name:
Killer cell immunoglobulin-like receptor 2DL4
Alternative name(s):
CD158 antigen-like family member D
G9P
Killer cell inhibitory receptor 103AS
Short name:
KIR-103AS
MHC class I NK cell receptor KIR103AS
CD_antigen: CD158d
Gene namesi
Name:KIR2DL4
Synonyms:CD158D, KIR103AS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6332. KIR2DL4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 242ExtracellularSequence analysisAdd BLAST221
Transmembranei243 – 263HelicalSequence analysisAdd BLAST21
Topological domaini264 – 377CytoplasmicSequence analysisAdd BLAST114

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
  • membrane Source: UniProtKB
  • plasma membrane Source: Reactome

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi3805.
OpenTargetsiENSG00000189013.
PharmGKBiPA30117.

Polymorphism and mutation databases

BioMutaiKIR2DL4.
DMDMi325511396.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21By similarityAdd BLAST21
ChainiPRO_000001508122 – 377Killer cell immunoglobulin-like receptor 2DL4Add BLAST356

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi51 ↔ 97By similarity
Glycosylationi141N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 195By similarity
Glycosylationi175N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PeptideAtlasiQ99706.
PRIDEiQ99706.

PTM databases

iPTMnetiQ99706.
PhosphoSitePlusiQ99706.

Expressioni

Gene expression databases

BgeeiENSG00000189013.
ExpressionAtlasiQ99706. baseline and differential.
GenevisibleiQ99706. HS.

Interactioni

Subunit structurei

Interacts with ARRB2.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110006. 5 interactors.
IntActiQ99706. 4 interactors.

Structurei

Secondary structure

1377
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi32 – 37Combined sources6
Beta strandi39 – 42Combined sources4
Beta strandi47 – 52Combined sources6
Beta strandi54 – 67Combined sources14
Helixi71 – 73Combined sources3
Beta strandi76 – 84Combined sources9
Helixi89 – 91Combined sources3
Beta strandi93 – 100Combined sources8
Beta strandi102 – 104Combined sources3
Beta strandi115 – 120Combined sources6
Beta strandi127 – 132Combined sources6
Beta strandi134 – 136Combined sources3
Beta strandi141 – 150Combined sources10
Beta strandi153 – 159Combined sources7
Beta strandi162 – 169Combined sources8
Beta strandi171 – 173Combined sources3
Turni174 – 176Combined sources3
Beta strandi177 – 186Combined sources10
Beta strandi191 – 198Combined sources8
Beta strandi213 – 217Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3WYRX-ray2.80A/B24-218[»]
ProteinModelPortaliQ99706.
SMRiQ99706.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 104Ig-like C2-type 1Add BLAST61
Domaini139 – 202Ig-like C2-type 2Add BLAST64

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00760000119033.
HOGENOMiHOG000234396.
HOVERGENiHBG074353.
InParanoidiQ99706.
KOiK07981.
OrthoDBiEOG091G0APE.
TreeFamiTF352669.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013151. Immunoglobulin.
PfamiView protein in Pfam
PF00047. ig. 2 hits.
SMARTiView protein in SMART
SM00409. IG. 2 hits.
SUPFAMiSSF48726. SSF48726. 2 hits.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99706-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR
60 70 80 90 100
CHYRRGFNIF TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF
110 120 130 140 150
HPHSPTEWSA PSNPLVIMVT GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS
160 170 180 190 200
SFDIYHLSRE GEAHELRLPA VPSINGTFQA DFPLGPATHG ETYRCFGSFH
210 220 230 240 250
GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH LHAVIRYSVA
260 270 280 290 300
IILFTILPFF LLHRWCSKKK DAAVMNQEPA GHRTVNREDS DEQDPQEVTY
310 320 330 340 350
AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ
360 370
ALMGSSRETT ALSQTQLASS NVPAAGI
Length:377
Mass (Da):41,487
Last modified:March 8, 2011 - v3
Checksum:i888B3297332D6C59
GO
Isoform 2 (identifier: Q99706-2) [UniParc]FASTAAdd to basket
Also known as: AST

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.

Show »
Length:360
Mass (Da):39,699
Checksum:iA7E18C6F0DDBD526
GO
Isoform 3 (identifier: Q99706-3) [UniParc]FASTAAdd to basket
Also known as: AS

The sequence of this isoform differs from the canonical sequence as follows:
     236-270: Missing.

Show »
Length:342
Mass (Da):37,356
Checksum:i963B74BC0E5C7B64
GO
Isoform 4 (identifier: Q99706-4) [UniParc]FASTAAdd to basket
Also known as: ASD1

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.
     236-270: Missing.

Show »
Length:325
Mass (Da):35,568
Checksum:iA07C525E18C55C79
GO
Isoform 5 (identifier: Q99706-5) [UniParc]FASTAAdd to basket
Also known as: ASD2

The sequence of this isoform differs from the canonical sequence as follows:
     219-235: Missing.
     236-270: Missing.
     271-288: Missing.

Show »
Length:307
Mass (Da):33,591
Checksum:i360E7C2058E1788E
GO
Isoform 6 (identifier: Q99706-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-121: Missing.
     219-235: Missing.
     236-270: Missing.

Show »
Length:230
Mass (Da):24,917
Checksum:i0FCFE3EE13BACBB7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47V → A in ABW73961 (PubMed:18082267).Curated1
Sequence conflicti229T → P in AAD24763 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01030753Y → C3 PublicationsCorresponds to variant dbSNP:rs618835Ensembl.1
Natural variantiVAR_01030887V → L3 Publications1
Natural variantiVAR_010309138A → T5 PublicationsCorresponds to variant dbSNP:rs1051454Ensembl.1
Natural variantiVAR_010310209P → A5 PublicationsCorresponds to variant dbSNP:rs1051456Ensembl.1
Natural variantiVAR_064649271 – 273DAA → MLL in allele KIR2DL4*0501. 3
Natural variantiVAR_010311271D → N4 Publications1
Natural variantiVAR_065101274 – 377Missing in allele KIR2DL4*0501. Add BLAST104
Natural variantiVAR_010312371N → H4 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00260827 – 121Missing in isoform 6. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_002609219 – 235Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST17
Alternative sequenceiVSP_002610236 – 270Missing in isoform 3, isoform 4, isoform 5 and isoform 6. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_002611271 – 288Missing in isoform 5. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U71199 mRNA. Translation: AAB49756.1.
AF034771 mRNA. Translation: AAB95164.1.
AF034772 mRNA. Translation: AAB95165.1.
AF034773 mRNA. Translation: AAB95166.1.
U73394 mRNA. Translation: AAC51146.1.
AF003123
, AF003116, AF003117, AF003118, AF003119, AF003121, AF003122, AF003120 Genomic DNA. Translation: AAB61926.1.
AF002979 mRNA. Translation: AAB71387.1.
AF002980 mRNA. Translation: AAB71388.1.
AF002981 mRNA. Translation: AAB71389.1.
AF002982 mRNA. Translation: AAB71390.1.
EU194342 mRNA. Translation: ABW73961.1.
X97229 mRNA. Translation: CAA65868.1.
X99479 mRNA. Translation: CAA67842.1.
X99480 mRNA. Translation: CAA67843.1.
X99481 mRNA. Translation: CAA67844.1.
AF110035
, AF110032, AF110033, AF110034 Genomic DNA. Translation: AAD24763.1.
AC011501 Genomic DNA. No translation available.
AL133414 Genomic DNA. Translation: CAC40708.1.
CCDSiCCDS42619.1. [Q99706-3]
RefSeqiNP_001074239.1. NM_001080770.1. [Q99706-3]
NP_002246.5. NM_002255.5.
UniGeneiHs.661219.
Hs.743945.

Genome annotation databases

EnsembliENST00000345540; ENSP00000339634; ENSG00000189013. [Q99706-3]
ENST00000357494; ENSP00000350088; ENSG00000189013. [Q99706-4]
ENST00000396293; ENSP00000379588; ENSG00000189013. [Q99706-6]
ENST00000611022; ENSP00000484469; ENSG00000274232. [Q99706-3]
ENST00000612573; ENSP00000482206; ENSG00000275456.
ENST00000612660; ENSP00000479179; ENSG00000275317.
ENST00000613053; ENSP00000484389; ENSG00000277362.
ENST00000614653; ENSP00000478362; ENSG00000277750.
ENST00000614680; ENSP00000477984; ENSG00000273575. [Q99706-3]
ENST00000615232; ENSP00000479874; ENSG00000274232. [Q99706-6]
ENST00000615243; ENSP00000482454; ENSG00000274232. [Q99706-4]
ENST00000615970; ENSP00000477887; ENSG00000278271.
ENST00000616354; ENSP00000483782; ENSG00000278430.
ENST00000616384; ENSP00000479347; ENSG00000276044. [Q99706-3]
ENST00000618297; ENSP00000477886; ENSG00000278074.
ENST00000618358; ENSP00000483101; ENSG00000274609.
ENST00000618567; ENSP00000482383; ENSG00000276779.
ENST00000619637; ENSP00000478491; ENSG00000274955.
ENST00000619848; ENSP00000480801; ENSG00000277964.
ENST00000620484; ENSP00000477601; ENSG00000275317.
ENST00000620486; ENSP00000482452; ENSG00000278430.
ENST00000621182; ENSP00000479175; ENSG00000275699. [Q99706-3]
ENST00000638231; ENSP00000492368; ENSG00000284460. [Q99706-6]
ENST00000638248; ENSP00000491734; ENSG00000284365. [Q99706-4]
ENST00000638297; ENSP00000492029; ENSG00000284365. [Q99706-6]
ENST00000638897; ENSP00000492653; ENSG00000283961. [Q99706-4]
ENST00000639460; ENSP00000491648; ENSG00000283869. [Q99706-6]
ENST00000639533; ENSP00000491289; ENSG00000283961. [Q99706-6]
ENST00000639740; ENSP00000492606; ENSG00000284509. [Q99706-6]
ENST00000639866; ENSP00000491202; ENSG00000283961. [Q99706-3]
ENST00000640814; ENSP00000491623; ENSG00000284365. [Q99706-3]
GeneIDi3805.
KEGGihsa:3805.
UCSCiuc002qhg.5. human. [Q99706-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKI2L4_HUMAN
AccessioniPrimary (citable) accession number: Q99706
Secondary accession number(s): A8W795
, O14621, O14622, O14623, O14624, O43534, P78400, P78401, Q8N738, Q99559, Q99560, Q99561, Q99562, Q9UQJ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 8, 2011
Last modified: August 30, 2017
This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families