KLRB1

Chr 12

killer cell lectin like receptor B1

Also known as: CD161, CLEC5B, NKR, NKR-P1, NKR-P1A, NKRP1A, hNKR-P1A

Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
79
Pubs (1 yr)
P/LP submissions
P/LP missense
1.44
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.000
Z-score 0.42
OE 0.87 (0.551.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.13Z-score
OE missense 0.96 (0.821.13)
106 obs / 109.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.551.44)
00.351.4
Missense OE?0.96 (0.821.13)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 11 / 12.6Missense obs/exp: 106 / 109.9Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KLRB1 · 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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