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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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XKR6
XK related 6
Chromosome 8 · 8p23.1
NCBI Gene: 286046Ensembl: ENSG00000171044.11HGNC: HGNC:27806UniProt: Q5GH73
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
engulfment of apoptotic cellphosphatidylserine exposure on apoptotic cell surfaceapoptotic process involved in developmentplasma membranetype 2 diabetes mellitusrisk-taking behaviourAbnormality of the skeletal systemrestless legs syndrome
✦AI Summary

XKR6 (XK related 6) is a membrane protein involved in apoptotic cell clearance and immune homeostasis. Based on Gene Ontology annotations, XKR6 functions in phosphatidylserine exposure on apoptotic cell surfaces and engulfment of apoptotic cells [GO:plasma membrane, GO:apoptotic process]. XKR6 has emerged as a significant susceptibility locus for multiple autoimmune and cardiometabolic diseases. It was identified as a novel genome-wide significant risk locus for Sjögren's disease 1, and genetic variants in XKR6 are associated with childhood-onset systemic lupus erythematosus (SLE), with rs7460469 showing particularly strong association (OR = 5.58) 2. XKR6 is also implicated in shared genetic pathways between endometriosis and rheumatoid arthritis 3. Additionally, XKR6 variants influence cardiovascular and metabolic phenotypes: the rs7014968 and rs7819412 SNPs associate with altered serum lipid profiles and increased risk of coronary heart disease and ischemic stroke in Han Chinese populations 45. Recent evidence suggests XKR6 variants may be shared genetic contributors to neuroticism and tinnitus susceptibility 6. XKR6 also shows potential diagnostic value for idiopathic pulmonary fibrosis 7. These findings indicate XKR6's critical role in immune regulation and cardiovascular homeostasis, with clinical implications for understanding disease susceptibility across multiple conditions.

Sources cited
1
XKR6 identified as novel genome-wide significant risk locus for Sjögren's disease
PMID: 35896530
2
XKR6 rs7460469 variant strongly associated with childhood-onset SLE (OR = 5.58)
PMID: 29967481
3
XKR6 shared genetic locus between endometriosis and rheumatoid arthritis
PMID: 40262193
4
XKR6 rs7014968 SNP associated with serum total cholesterol levels and CHD/ischemic stroke risk
PMID: 32024373
5
XKR6 rs7819412 SNP associated with serum lipid levels and coronary artery disease/ischemic stroke risk
PMID: 31429711
6
XKR6 identified as shared genetic variant between neuroticism and tinnitus
PMID: 41033407
7
XKR6 identified as potential biomarker for diagnosis of idiopathic pulmonary fibrosis
PMID: 37266442
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.36Weak
risk-taking behaviourOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
restless legs syndromeOpen Targets
0.34Weak
hypothyroidismOpen Targets
0.33Weak
osteoarthritisOpen Targets
0.33Weak
asthmaOpen Targets
0.33Weak
systemic lupus erythematosusOpen Targets
0.32Weak
smoking initiationOpen Targets
0.32Weak
response to xenobiotic stimulusOpen Targets
0.32Weak
osteoarthritis, kneeOpen Targets
0.31Weak
osteoarthritis, hipOpen Targets
0.29Weak
agingOpen Targets
0.29Weak
poisoningOpen Targets
0.28Weak
neurotic disorderOpen Targets
0.27Weak
hypertensionOpen Targets
0.27Weak
mathematical abilityOpen Targets
0.26Weak
chronic rhinosinusitisOpen Targets
0.25Weak
liver diseaseOpen Targets
0.25Weak
psoriatic arthritisOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XKR4Shared pathway100%XKR7Shared pathway100%FAM167AProtein interaction74%XKR8Shared pathway60%MEGF10Shared pathway20%PLSCR2Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
79%
Lung
67%
Heart
46%
Liver
19%
Ovary
14%
Gene Interaction Network
Click a node to explore
XKR6XKR4XKR7FAM167AXKR8MEGF10PLSCR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5GH73
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.45 [0.32–0.64]
RankingsWhere XKR6 stands among ~20K protein-coding genes
  • #14,066of 20,598
    Most Researched21
  • #4,572of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedXKR6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The phenotypic and genetic association between endometriosis and immunological diseases.
PMID: 40262193
Hum Reprod · 2025
1.00
2
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
PMID: 35896530
Nat Commun · 2022
0.90
3
PMID: 32024373
Clin Appl Thromb Hemost · 2020
0.80
4
Association between the XKR6 rs7819412 SNP and serum lipid levels and the risk of coronary artery disease and ischemic stroke.
PMID: 31429711
BMC Cardiovasc Disord · 2019
0.70
5
Autoimmune risk loci of IL12RB2, IKZF1, XKR6, TMEM39A and CSK in Chinese patients with systemic lupus erythematosus.
PMID: 25720506
Tissue Antigens · 2015
0.60