HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
XKR4
XK related 4
Chromosome 8 · 8q12.1
NCBI Gene: 114786Ensembl: ENSG00000206579.10HGNC: HGNC:29394UniProt: Q5GH76
16PubMed 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 membranefamilial hemolytic anemiaAbnormal nasolacrimal system morphologyinherited hemoglobinopathycardiomyopathy
✦AI Summary

XKR4 is a phospholipid scramblase that mediates phosphatidylserine (PtdSer) externalization on apoptotic cell surfaces 1. During apoptosis, caspase-mediated cleavage of XKR4 activates the protein, which then undergoes dimerization and is further activated by the nuclear protein fragment XRCC4 2. Mechanistically, XKR4 adopts a novel membrane-embedded conformation with negatively charged acidic residues that induces membrane thinning, facilitating lipid scrambling 3. PtdSer exposure serves as an "eat me" signal recognized by macrophages for efficient clearance of dying cells; defective XKR4-mediated scrambling impairs this process and promotes inflammation 1. Unlike ubiquitously expressed XKR8, XKR4 demonstrates tissue-specific expression patterns 1. Clinically, XKR4 polymorphisms show associations with taxane-induced peripheral neuropathy susceptibility in breast cancer patients 4, and have modest associations with bipolar disorder clinical characteristics 5. Additionally, XKR4 variants correlate with prolactin concentrations in cattle exposed to fescue toxicosis 6, suggesting broader roles in neuroendocrine regulation. XKR4 represents a conserved mechanism for clearing apoptotic cells, essential for maintaining tissue homeostasis and preventing inflammatory complications.

Sources cited
1
XKR4 promotes phosphatidylserine exposure during apoptosis and requires caspase cleavage; expressed in tissue-specific manner
PMID: 25231987
2
XKR4 activation requires caspase-mediated cleavage and subsequent activation by XRCC4 nuclear protein fragment
PMID: 33725486
3
XKR4 adopts novel membrane conformation with acidic residues that induce membrane thinning to promote lipid scrambling
PMID: 40781244
4
XKR4 polymorphism rs4737264 associated with taxane-induced peripheral neuropathy in breast cancer
PMID: 35892315
5
XKR4 shows modest association with bipolar disorder clinical characteristics including age-at-onset and mood episodes
PMID: 38570518
6
XKR4 polymorphism rs42646708 associated with serum prolactin concentrations in cattle with fescue toxicosis
PMID: 24666329
Disease Associationsⓘ20
familial hemolytic anemiaOpen Targets
0.30Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.29Weak
inherited hemoglobinopathyOpen Targets
0.29Weak
cardiomyopathyOpen Targets
0.27Weak
cataractOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
intracerebral hemorrhageOpen Targets
0.24Weak
ankylosing spondylitisOpen Targets
0.23Weak
liver diseaseOpen Targets
0.23Weak
trauma complicationOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.22Weak
ocular hypotensionOpen Targets
0.21Weak
shortness of breathOpen Targets
0.20Weak
chronic primary adrenal insufficiencyOpen Targets
0.19Weak
male infertilityOpen Targets
0.19Weak
SepsisOpen Targets
0.19Weak
strictureOpen Targets
0.18Weak
HerniaOpen Targets
0.09Suggestive
spondylolisthesisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XKR7Shared pathway100%XKR6Shared pathway100%TMEM68Protein interaction79%XKR8Shared pathway60%MEGF10Shared pathway20%PLSCR2Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Heart
46%
Ovary
10%
Liver
9%
Lung
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
XKR4XKR7XKR6TMEM68XKR8MEGF10PLSCR2
PROTEIN STRUCTURE
Preparing viewer…
PDB9BOJ · 3.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.37]
RankingsWhere XKR4 stands among ~20K protein-coding genes
  • #15,443of 20,598
    Most Researched16
  • #1,741of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedXKR4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure and function of the human apoptotic scramblase Xkr4.
PMID: 40781244
Nat Commun · 2025
1.00
2
Structure and function of the human apoptotic scramblase Xkr4.
PMID: 39149361
bioRxiv · 2024
0.90
3
Caspase cleavage releases a nuclear protein fragment that stimulates phospholipid scrambling at the plasma membrane.
PMID: 33725486
Mol Cell · 2021
0.80
4
Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder.
PMID: 38570518
Transl Psychiatry · 2024
0.70
5
A polymorphism in XKR4 is significantly associated with serum prolactin concentrations in beef cows grazing tall fescue.
PMID: 24666329
Anim Genet · 2014
0.60