LY6K

Chr 8

lymphocyte antigen 6 family member K

Also known as: CT97, HSJ001348, URLC10, ly-6K

The LY6K protein is required for sperm migration into the oviduct and male fertility by controlling sperm binding to the zona pellucida. Mutations in LY6K cause male infertility due to defects in sperm function. The gene shows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.63
Clinical SummaryLY6K
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.63LOEUF
pLI 0.014
Z-score 0.61
OE 0.68 (0.311.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.48Z-score
OE missense 0.86 (0.721.03)
84 obs / 97.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.68 (0.311.63)
00.351.4
Missense OE0.86 (0.721.03)
00.61.4
Synonymous OE0.86
01.21.6
LoF obs/exp: 3 / 4.4Missense obs/exp: 84 / 97.4Syn Z: 0.67
DN
0.6744th %ile
GOF
0.5366th %ile
LOF
0.2091th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LY6K · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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