|
Gene id |
3803 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KIR2DL2 Gene UCSC Ensembl |
|
Aliases |
CD158B1, CD158b, NKAT-6, NKAT6, p58.2 |
|
Gene name |
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 |
|
Alternate names |
killer cell immunoglobulin-like receptor 2DL2, CD158 antigen-like family member B1, MHC class I NK cell receptor, killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2, natural killer-associated transcript 6, p58 NK receptor CL-4, |
|
Gene location |
19q13.4 (: ) Exons:
|
|
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
|
|
OMIM |
604937 |
Protein Summary
|
| Protein general information
| P43627
Name: Killer cell immunoglobulin like receptor 2DL2 (CD158 antigen like family member B1) (MHC class I NK cell receptor) (Natural killer associated transcript 6) (NKAT 6) (p58 natural killer cell receptor clone CL 43) (p58 NK receptor CL 43) (CD antigen CD158b1
Length: 348 Mass: 38,472
|
| Sequence |
MSLMVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGRLVKSEETVILQCWSDVRFEHFLLHREGKFKDTLHLIGE
HHDGVSKANFSIGPMMQDLAGTYRCYGSVTHSPYQLSAPSDPLDIVITGLYEKPSLSAQPGPTVLAGESVTLSCS
SRSSYDMYHLSREGEAHECRFSAGPKVNGTFQADFPLGPATHGGTYRCFGSFRDSPYEWSNSSDPLLVSVIGNPS
NSWPSPTEPSSKTGNPRHLHILIGTSVVIILFILLFFLLHRWCSNKKNAAVMDQESAGNRTANSEDSDEQDPQEV
TYTQLNHCVFTQRKITRPSQRPKTPPTDIIVYAELPNAESRSKVVSCP
|
| Structural information |
|
| Other Databases |
GeneCards: KIR2DL2 Malacards: KIR2DL2 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0005886 |
plasma membrane
|
TAS |
cellular component |
GO:0016021 |
integral component of mem
brane
|
IEA |
cellular component |
GO:0050776 |
regulation of immune resp
onse
|
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: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:0005886 |
plasma membrane
|
TAS |
cellular component |
GO:0050776 |
regulation of immune resp
onse
|
TAS |
biological process |
|
|
| Pathway id | Pathway name |
|---|
| hsa00270 | Cysteine and methionine metabolism | | hsa00513 | Various types of N-glycan biosynthesis | | hsa00604 | Glycosphingolipid biosynthesis - ganglio series | | hsa04010 | MAPK signaling pathway | | hsa04218 | Cellular senescence | | hsa04650 | Natural killer cell mediated cytotoxicity | | hsa04612 | Antigen processing and presentation | | hsa05332 | Graft-versus-host disease | |
|
| Associated diseases |
References |
| Cancer (Hepatocellular) | GAD: 19326408 |
| Cancer (leukemia) | GAD: 19450876 |
| Cancer (lymphoma) | GAD: 20207982 |
| Cancer (melanoma) | GAD: 15248031 |
| Cancer (Neuroblastoma) | GAD: 19934297 |
| Cancer | GAD: 19934297 |
| Cancer (cervical) | GAD: 15730517 |
| Angina pectoris | GAD: 18755860 |
| Graves disease | GAD: 19664392 |
| Autoimmune diseases | GAD: 20082482 |
| Axial spondyloarthropathy | GAD: 19850842 |
| Behcet's disease | GAD: 17868255 |
| Celiac disease | GAD: 12121272 |
| Crohn's disease | GAD: 19789864 |
| Sjogren's syndrome | GAD: 19181658 |
| Ulcerative colitis | GAD: 16929347 |
| Multiple sclerosis | GAD: 19421224 |
| Scleroderma | GAD: 20082621 |
| Psoriasis | GAD: 15140215 |
| Psoriatic arthritis | GAD: 16112031 |
| Systemic lupus erythematosus (SLE) | GAD: 19926642 |
| Diabetes | GAD: 15699512 |
| Osteoarthritis | GAD: 19489269 |
| Ankylosing spondylitis | GAD: 19019897 |
| Paraparesis | GAD: 20483367 |
| Vogt-Koyanagi-Harada syndrome | GAD: 19897003 |
| Uveomeningoencephalitic syndrome | GAD: 18571006 |
| Pregnancy loss | GAD: 19279038 |
| Spontaneous abortion | GAD: 19875891 |
| Recurrent pregnancy loss (RPL) | INFBASE: 17445181 |
| Cryptorchidism | MIK: 26679162 |
| Cryptorchidism | MIK: 26679162 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26679162 |
Cryptorchi
dism
|
|
|
245 (109 prepub
ertal boys with
cryptorchidism
, 136 ethnicall
y matched young
male donors)
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|