Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3802
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol KIR2DL1   Gene   UCSC   Ensembl
Aliases CD158A, KIR-K64, KIR221, NKAT, NKAT-1, NKAT1, p58.1
Gene name killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
Alternate names killer cell immunoglobulin-like receptor 2DL1, CD158 antigen-like family member A, MHC class I NK cell receptor, killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1, killer inhibitory receptor 2-2-1, natural killer-associated transc,
Gene location 19q13.42 (54769207: 54784325)     Exons: 11     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 604936

Protein Summary

Protein general information P43626  

Name: Killer cell immunoglobulin like receptor 2DL1 (CD158 antigen like family member A) (MHC class I NK cell receptor) (Natural killer associated transcript 1) (NKAT 1) (p58 natural killer cell receptor clones CL 42/47.11) (p58 NK receptor CL 42/47.11) (p58.1

Length: 348  Mass: 38,505

Sequence MSLLVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGPLVKSEETVILQCWSDVMFEHFLLHREGMFNDTLRLIGE
HHDGVSKANFSISRMTQDLAGTYRCYGSVTHSPYQVSAPSDPLDIVIIGLYEKPSLSAQPGPTVLAGENVTLSCS
SRSSYDMYHLSREGEAHERRLPAGPKVNGTFQADFPLGPATHGGTYRCFGSFHDSPYEWSKSSDPLLVSVTGNPS
NSWPSPTEPSSKTGNPRHLHILIGTSVVIILFILLFFLLHRWCSNKKNAAVMDQESAGNRTANSEDSDEQDPQEV
TYTQLNHCVFTQRKITRPSQRPKTPPTDIIVYTELPNAESRSKVVSCP
Structural information
Protein Domains
Ig-like (42-107)
Ig-like (142-205)
Interpro:  IPR007110 IPR013783 IPR003599 IPR013151

Pfam:  
PF00047

PDB:  
1IM9 1NKR
PDBsum:   1IM9 1NKR
MINT:   8013645
STRING:   ENSP00000336769;
Other Databases GeneCards:  KIR2DL1;  Malacards:  KIR2DL1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002769 natural killer cell inhib
itory signaling pathway
IDA biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006955 immune response
TAS biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0002769 natural killer cell inhib
itory signaling pathway
IDA biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006955 immune response
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0050776 regulation of immune resp
onse
TAS biological_process
GO:0002769 natural killer cell inhib
itory signaling pathway
IDA biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006955 immune response
TAS biological_process
GO:0050776 regulation of immune resp
onse
TAS biological_process

KEGG pathways

hsa04650  Natural killer cell mediated cytotoxicity
hsa04612  Antigen processing and presentation
hsa05332  Graft-versus-host disease

Diseases

Associated diseases References
Endometriosis (Pelvic) PMID: 11821086
Ankylosing spondylitis PMID: 19019897
Axial spondyloarthropathy PMID: 19850842
Cancer PMID: 17490516
Celiac disease PMID: 12121272
Chorioretinitis PMID: 18340360
Female infertility PMID: 19260857
Graves disease PMID: 19664392
Multiple sclerosis PMID: 19421224
Myocardial infarction PMID: 16508981
Osteoarthritis PMID: 19489269
Pelvic endometriosis PMID: 11821086
Pelvic endometriosis INFBASE11821086
Psoriasis PMID: 15310528
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 19875891
Reproductive failure PMID: 23951916
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
11821086 Endometrio
sis (Pelvi
c)
Japanes
e
40 women with o
ther laparoscop
ic diagnoses, w
omen diagnosed
with endometrio
sis
KIR2DL1
Show abstract