Endometriosis Knowledgebase

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Gene id

3810

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KIR2DS5 Gene UCSC Ensembl

Aliases

CD158G, NKAT9

Gene name

killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5

Alternate names

killer cell immunoglobulin-like receptor 2DS5, CD158 antigen-like family member G, NKAT-9, killer Ig receptor, killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5, natural killer cell inhibitory receptor, natural killer-associated transcript 9,

Gene location

19q13.4 (160099441: 160091338) Exons: 12 NC_000001.11

Gene summary(Entrez)

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]

OMIM

604956

Protein Summary

Protein general information

Q14953

Name: Killer cell immunoglobulin-like receptor 2DS5 (CD158 antigen-like family member G) (MHC class I NK cell receptor) (Natural killer-associated transcript 9) (NKAT-9) (CD antigen CD158g)

Length: 304 Mass: 33,698

Tissue specificity: Expressed on a discrete subset of peripheral blood NK cells. {ECO

Sequence

MSLMVISMACVAFFLLQGAWPHEGFRRKPSLLAHPGPLVKSEETVILQCWSDVMFEHFLLHREGTFNHTLRLIGE
HIDGVSKGNFSIGRMTQDLAGTYRCYGSVTHSPYQLSAPSDPLDIVITGLYEKPSLSAQPGPTVLAGESVTLSCS
SRSSYDMYHLSREGEAHERRLPAGPKVNRTFQADFPLDPATHGGTYRCFGSFRDSPYEWSKSSDPLLVSVTGNSS
NSWPSPTEPSSETGNPRHLHVLIGTSVVKLPFTILLFFLLHRWCSNKKNASVMDQGPAGNRTVNREDSDEQDHQE
VSYA

Structural information

Protein Domains	Ig-like (42-107) Ig-like (142-205)
Interpro:	IPR036179 IPR013783 IPR003599 IPR013151
Pfam:	PF00047

Other Databases

GeneCards: KIR2DS5; Malacards: KIR2DS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0030110	HLA-C specific inhibitory MHC class I receptor act ivity	NAS	molecular_function
GO:0045087	innate immune response	TAS	biological_process
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030110	HLA-C specific inhibitory MHC class I receptor act ivity	NAS	molecular_function
GO:0045087	innate immune response	TAS	biological_process
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0030110	HLA-C specific inhibitory MHC class I receptor act ivity	NAS	molecular_function
GO:0045087	innate immune response	TAS	biological_process

KEGG pathways

hsa04612 Antigen processing and presentation
hsa04650 Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Endometriosis	INFBASE20865034

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20865034	Endometrio sis					KIR2DS5	Show abstract