KLRC2

Chr 12

killer cell lectin like receptor C2

Also known as: CD159c, NKG2-C, NKG2C

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]

OMIMResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
1.81
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -0.64
OE 1.21 (0.781.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.27Z-score
OE missense 1.07 (0.931.24)
125 obs / 116.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.21 (0.781.81)
00.351.4
Missense OE?1.07 (0.931.24)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 13 / 10.8Missense obs/exp: 125 / 116.8Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KLRC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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