KLRK1

Chr 12

killer cell lectin like receptor K1

Also known as: CD314, D12S2489E, KLR, NKG2-D, NKG2D

NCBI Gene: 22914ENSG00000213809UniProt: P26718

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 NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…
2
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.80
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.000
Z-score -0.91
OE 1.26 (0.87–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.63Z-score
OE missense 0.83 (0.70–0.99)
94 obs / 112.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.26 (0.87–1.80)
0≤0.351.4
Missense OE?0.83 (0.70–0.99)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 18 / 14.3Missense obs/exp: 94 / 112.9Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLRK1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients