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Q99706

- KI2L4_HUMAN

UniProt

Q99706 - KI2L4_HUMAN

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Protein
Killer cell immunoglobulin-like receptor 2DL4
Gene
KIR2DL4, CD158D, KIR103AS
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. protein binding Source: UniProtKB
  2. transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  1. cellular defense response Source: ProtInc
  2. regulation of immune response Source: Reactome
  3. signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6332. KIR2DL4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 242221Extracellular Reviewed prediction
Add
BLAST
Transmembranei243 – 26321Helical; Reviewed prediction
Add
BLAST
Topological domaini264 – 377114Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30117.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 By similarity
Add
BLAST
Chaini22 – 377356Killer cell immunoglobulin-like receptor 2DL4
PRO_0000015081Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi51 ↔ 97 By similarity
Glycosylationi141 – 1411N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi146 ↔ 195 By similarity
Glycosylationi175 – 1751N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ99706.
PRIDEiQ99706.

PTM databases

PhosphoSiteiQ99706.

Expressioni

Gene expression databases

ArrayExpressiQ99706.
BgeeiQ99706.
GenevestigatoriQ99706.

Interactioni

Subunit structurei

Interacts with ARRB2.1 Publication

Protein-protein interaction databases

BioGridi110006. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ99706.
SMRiQ99706. Positions 30-218.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini44 – 10461Ig-like C2-type 1
Add
BLAST
Domaini139 – 20264Ig-like C2-type 2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG25862.
HOVERGENiHBG074353.
KOiK07981.
OrthoDBiEOG7H792J.
TreeFamiTF352669.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]

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. Align

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

MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR    50
CHYRRGFNIF TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF 100
HPHSPTEWSA PSNPLVIMVT GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS 150
SFDIYHLSRE GEAHELRLPA VPSINGTFQA DFPLGPATHG ETYRCFGSFH 200
GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH LHAVIRYSVA 250
IILFTILPFF LLHRWCSKKK DAAVMNQEPA GHRTVNREDS DEQDPQEVTY 300
AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ 350
ALMGSSRETT ALSQTQLASS NVPAAGI 377
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531Y → C.3 Publications
Corresponds to variant rs618835 [ dbSNP | Ensembl ].
VAR_010307
Natural varianti87 – 871V → L.3 Publications
Corresponds to variant rs1057767 [ dbSNP | Ensembl ].
VAR_010308
Natural varianti138 – 1381A → T.5 Publications
Corresponds to variant rs1051454 [ dbSNP | Ensembl ].
VAR_010309
Natural varianti209 – 2091P → A.5 Publications
Corresponds to variant rs1051456 [ dbSNP | Ensembl ].
VAR_010310
Natural varianti271 – 2733DAA → MLL in allele KIR2DL4*0501.
VAR_064649
Natural varianti271 – 2711D → N.4 Publications
VAR_010311
Natural varianti274 – 377104Missing in allele KIR2DL4*0501.
VAR_065101Add
BLAST
Natural varianti371 – 3711N → H.4 Publications
Corresponds to variant rs1051460 [ dbSNP | Ensembl ].
VAR_010312

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei27 – 12195Missing in isoform 6.
VSP_002608Add
BLAST
Alternative sequencei219 – 23517Missing in isoform 2, isoform 4, isoform 5 and isoform 6.
VSP_002609Add
BLAST
Alternative sequencei236 – 27035Missing in isoform 3, isoform 4, isoform 5 and isoform 6.
VSP_002610Add
BLAST
Alternative sequencei271 – 28818Missing in isoform 5.
VSP_002611Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti47 – 471V → A in ABW73961. 1 Publication
Sequence conflicti229 – 2291T → P in AAD24763. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000604047; ENSP00000475014; ENSG00000271713. [Q99706-6]
ENST00000604327; ENSP00000474377; ENSG00000271713. [Q99706-3]
ENST00000605092; ENSP00000474171; ENSG00000271713. [Q99706-4]
GeneIDi3805.
KEGGihsa:3805.
UCSCiuc002qhf.4. human. [Q99706-6]
uc002qhg.4. human. [Q99706-3]
uc002qhi.4. human. [Q99706-2]
uc002qhj.4. human. [Q99706-4]
uc010esd.4. human. [Q99706-1]

Polymorphism databases

DMDMi325511396.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS42619.1. [Q99706-3 ]
RefSeqi NP_001074239.1. NM_001080770.1. [Q99706-3 ]
NP_002246.5. NM_002255.5.
UniGenei Hs.661219.
Hs.743945.

3D structure databases

ProteinModelPortali Q99706.
SMRi Q99706. Positions 30-218.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110006. 3 interactions.

PTM databases

PhosphoSitei Q99706.

Polymorphism databases

DMDMi 325511396.

Proteomic databases

PaxDbi Q99706.
PRIDEi Q99706.

Protocols and materials databases

DNASUi 3805.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000345540 ; ENSP00000339634 ; ENSG00000189013 . [Q99706-3 ]
ENST00000357494 ; ENSP00000350088 ; ENSG00000189013 . [Q99706-4 ]
ENST00000396293 ; ENSP00000379588 ; ENSG00000189013 . [Q99706-6 ]
ENST00000604047 ; ENSP00000475014 ; ENSG00000271713 . [Q99706-6 ]
ENST00000604327 ; ENSP00000474377 ; ENSG00000271713 . [Q99706-3 ]
ENST00000605092 ; ENSP00000474171 ; ENSG00000271713 . [Q99706-4 ]
GeneIDi 3805.
KEGGi hsa:3805.
UCSCi uc002qhf.4. human. [Q99706-6 ]
uc002qhg.4. human. [Q99706-3 ]
uc002qhi.4. human. [Q99706-2 ]
uc002qhj.4. human. [Q99706-4 ]
uc010esd.4. human. [Q99706-1 ]

Organism-specific databases

CTDi 3805.
GeneCardsi GC19P055272.
HGNCi HGNC:6332. KIR2DL4.
MIMi 604945. gene.
neXtProti NX_Q99706.
PharmGKBi PA30117.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG25862.
HOVERGENi HBG074353.
KOi K07981.
OrthoDBi EOG7H792J.
TreeFami TF352669.

Enzyme and pathway databases

Reactomei REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Miscellaneous databases

GeneWikii KIR2DL4.
GenomeRNAii 3805.
NextBioi 14949.
PROi Q99706.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q99706.
Bgeei Q99706.
Genevestigatori Q99706.

Family and domain databases

Gene3Di 2.60.40.10. 2 hits.
InterProi IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains."
    Selvakumar A., Steffens U., Dupont B.
    Tissue Antigens 48:285-294(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
  2. "Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors."
    Valiante N.M., Uhrberg M., Shilling H.G., Lienert-Weidenbach K., Arnett K.L., D'Andrea A., Phillips J.H., Lanier L.L., Parham P.
    Immunity 7:739-751(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CYS-53; THR-138; ALA-209; ASN-271 AND HIS-371.
  3. "Polymorphism and domain variability of human killer cell inhibitory receptors."
    Selvakumar A., Steffens U., Dupont B.
    Immunol. Rev. 155:183-196(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS LEU-87; THR-138; ALA-209 AND HIS-371.
  4. "Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103."
    Selvakumar A., Steffens U., Palanisamy N., Chaganti R.S.K., Dupont B.
    Tissue Antigens 49:564-573(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANTS LEU-87; THR-138; ALA-209; ASN-271 AND HIS-371.
  5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE KIR2DL4*0501), VARIANT CYS-53.
  6. Biassoni R.
    Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 6), VARIANTS THR-138; ALA-209 AND ASN-271.
    Tissue: Lymphoid tissue.
  7. "Exon deletion contributes to structural diversity of 2DL4 killer inhibitory receptors."
    Chan H.W., Salter R.D.
    Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CYS-53 AND ASN-271.
  8. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "An essential function for beta-arrestin 2 in the inhibitory signaling of natural killer cells."
    Yu M.-C., Su L.-L., Zou L., Liu Y., Wu N., Kong L., Zhuang Z.-H., Sun L., Liu H.P., Hu J.-H., Li D., Strominger J.L., Zang J.-W., Pei G., Ge B.-X.
    Nat. Immunol. 9:898-907(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ARRB2.

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 historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 8, 2011
Last modified: September 3, 2014
This is version 144 of the entry and version 3 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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