Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3809
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol KIR2DS4   Gene   UCSC   Ensembl
Aliases CD158I, KIR-2DS4, KIR1D, KIR412, KKA3, NKAT-8, NKAT8
Gene name killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4
Alternate names killer cell immunoglobulin-like receptor 2DS4, 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 recept,
Gene location 19q13.42 (54832675: 54848568)     Exons: 8     NC_000019.10
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 604955

Protein Summary

Protein general information P43632  

Name: Killer cell immunoglobulin like receptor 2DS4 (CD158 antigen like family member I) (MHC class I NK cell receptor) (Natural killer associated transcript 8) (NKAT 8) (P58 natural killer cell receptor clones CL 39/CL 17) (p58 NK receptor CL 39/CL 17) (CD ant

Length: 304  Mass: 33,583

Sequence MSLMVIIMACVGFFLLQGAWPQEGVHRKPSFLALPGHLVKSEETVILQCWSDVMFEHFLLHREGKFNNTLHLIGE
HHDGVSKANFSIGPMMPVLAGTYRCYGSVPHSPYQLSAPSDPLDMVIIGLYEKPSLSAQPGPTVQAGENVTLSCS
SRSSYDMYHLSREGEAHERRLPAVRSINGTFQADFPLGPATHGGTYRCFGSFRDAPYEWSNSSDPLLVSVTGNPS
NSWPSPTEPSSKTGNPRHLHVLIGTSVVKIPFTILLFFLLHRWCSDKKNAAVMDQEPAGNRTVNSEDSDEQDHQE
VSYA
Structural information
Protein Domains
Ig-like (42-107)
Ig-like (142-205)
Interpro:  IPR007110 IPR013783 IPR003599 IPR013151

Pfam:  
PF00047

PDB:  
3H8N
PDBsum:   3H8N
Other Databases GeneCards:  KIR2DS4;  Malacards:  KIR2DS4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
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
TAS cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0045087 innate immune response
TAS biological_process
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0045087 innate immune response
TAS biological_process

KEGG pathways

hsa04650  Natural killer cell mediated cytotoxicity
hsa04612  Antigen processing and presentation

Diseases

Associated diseases References
Ankylosing spondylitis PMID: 19019897
Axial spondyloarthropathy PMID: 19850842
Cancer PMID: 19934297
Chorioretinitis PMID: 18340360
Diabetes PMID: 19046302
Endometriosis PMID: 25724317
Graves disease PMID: 19664392
Multiple sclerosis PMID: 19421224
Osteoarthritis PMID: 19489269
Endometriosis INFBASE25724317
Psoriasis PMID: 18643961
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 19875891
Sjogren's syndrome PMID: 19181658
Systemic lupus erythematosus PMID: 18687225
Uveomeningo encephalitic syndrome PMID: 18571006
Vogt-Koyanagi-Harada syndrome PMID: 19897003

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25724317 Endometrio
sis
Polish
366 (153 women
with endometrio
sis, 213 contro
l healthy women
)

Show abstract