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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ANKRD50
ankyrin repeat domain 50
Chromosome 4 · 4q28.1
NCBI Gene: 57182Ensembl: ENSG00000151458.13HGNC: HGNC:29223UniProt: Q8TB46
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendocytic recyclingendosomeAbnormality of the skeletal systemseborrheic keratosisskin diseaseAbnormal pupillary function
✦AI Summary

ANKRD50 is a key component of the SNX27-retromer-WASH endosomal sorting complex essential for cargo recycling to the plasma membrane. 1 ANKRD50 mediates direct and cooperative interactions with multiple complex components, enabling efficient endocytic recycling of nutrient transporters including GLUT1 and SLC1A4. 1 Mechanistically, ANKRD50 depletion phenocopies loss of retromer or WASH function, resulting in mislocalization of cargo proteins. 1 Clinically, ANKRD50 has emerged as a disease-associated gene across multiple conditions. Upregulated ANKRD50 expression is identified as a plausible gastric cancer pathomechanism at a GWAS-identified risk locus. 2 Additionally, ANKRD50 harbors rare, probably damaging variants significantly enriched in Parkinson's disease patients compared to controls, making it a novel candidate PD gene. 3 Patients carrying multiple rare variants in PD-associated genes including ANKRD50 show higher disease risk and earlier age of onset. 3 ANKRD50 variants are also associated with lupus nephritis susceptibility. 4 These findings establish ANKRD50 as a functionally critical regulator of intracellular trafficking with relevance to neurodegeneration, cancer, and autoimmune disease pathogenesis.

Sources cited
1
ANKRD50 is an essential component of SNX27-retromer-WASH complex mediating endocytic recycling of nutrient transporters GLUT1 and SLC1A4 through multivalent interactions
PMID: 27909246
2
ANKRD50 upregulation is identified as a plausible pathomechanism at a GWAS-identified gastric cancer risk locus
PMID: 37209533
3
ANKRD50 is a novel candidate gene for Parkinson's disease with rare damaging variants enriched in patients; co-inheritance of multiple rare variants in ANKRD50 and related genes predicts disease risk
PMID: 40494419
4
ANKRD50 rs17008504 is a trans-eSNP associated with lupus nephritis susceptibility
PMID: 26509176
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
seborrheic keratosisOpen Targets
0.42Moderate
skin diseaseOpen Targets
0.40Weak
Abnormal pupillary functionOpen Targets
0.32Weak
response to darapladibOpen Targets
0.31Weak
glomerulonephritisOpen Targets
0.26Weak
gastric carcinomaOpen Targets
0.24Weak
type 1 diabetes mellitusOpen Targets
0.21Weak
ovarian neoplasmOpen Targets
0.21Weak
dyshidrosisOpen Targets
0.20Weak
injuryOpen Targets
0.20Weak
response to stimulusOpen Targets
0.20Weak
adverse effectOpen Targets
0.19Weak
cardiac transplantOpen Targets
0.19Weak
frozen shoulderOpen Targets
0.19Weak
food allergyOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.19Weak
muscular atrophyOpen Targets
0.19Weak
ovarian dysfunctionOpen Targets
0.19Weak
premature birthOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COMMD5Shared pathway100%COMMD9Shared pathway100%COMMD2Shared pathway100%COMMD10Shared pathway100%COMMD4Shared pathway100%COMMD8Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
77%
Brain
71%
Lung
57%
Ovary
46%
Liver
35%
Gene Interaction Network
Click a node to explore
ANKRD50COMMD5COMMD9COMMD2COMMD10COMMD4COMMD8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TB46
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.34 [0.26–0.44]
RankingsWhere ANKRD50 stands among ~20K protein-coding genes
  • #9,555of 20,598
    Most Researched44
  • #2,400of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedANKRD50
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Dissecting the genetic heterogeneity of gastric cancer.
PMID: 37209533
EBioMedicine · 2023
1.00
2
Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling.
PMID: 25278552
J Cell Sci · 2014
0.83
3
ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.
PMID: 40494419
Neurobiol Dis · 2025
0.67
4
Detecting Genetic Associations between ATG5 and Lupus Nephritis by trans-eQTL.
PMID: 26509176
J Immunol Res · 2015
0.50
5
Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50.
PMID: 27909246
J Cell Sci · 2017
0.33