Free for academic non-profit institutions. Other users need a Commercial license
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
KLRC2 (Killer Cell Lectin Like Receptor C2) is a Protein Coding gene. Diseases associated with KLRC2 include Ceftazidime Allergy and Thrombophlebitis Migrans. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is ENSG00000255641.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | TAS | 9683661 |
GO:0005515 | protein binding | IPI | 18448674 |
GO:0023024 | MHC class I protein complex binding | IPI | 18448674 |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:1990405 | protein antigen binding | IDA | 18448674 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 8436421 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043235 | receptor complex | IDA | 18448674 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Role of DAP12 receptors in NK cells |
Immune response Role of DAP12 receptors in NK cells
.32
|
|
2 | RET signaling |
.92
|
|
3 | Innate Immune System |
.61
|
|
4 | Allograft rejection | ||
5 | Hematopoietic Stem Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002228 | natural killer cell mediated immunity | IDA | 18448674 |
GO:0006968 | cellular defense response | TAS | 9683661 |
GO:0007165 | signal transduction | TAS | 2007850 |
GO:0045087 | innate immune response | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC101058094 30 |
|
||
KLRC2 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | LOC609192 30 |
|
||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Klre1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724292 | Benign: not provided | 10,435,819(-) | A/G | SYNONYMOUS_VARIANT | |
768518 | Benign: not provided | 10,434,512(-) | A/G | MISSENSE_VARIANT | |
769386 | Benign: not provided | 10,435,931(-) | C/G | MISSENSE_VARIANT | |
769387 | Benign: not provided | 10,435,982(-) | T/C | MISSENSE_VARIANT | |
rs28403159 | - | p.Ser2Asn |
Disorder | Aliases | PubMed IDs |
---|---|---|
ceftazidime allergy |
|
|
thrombophlebitis migrans |
|
|
celiac disease 1 |
|
|
leukemia, acute myeloid |
|
|