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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANKRD39
ankyrin repeat domain 39
Chromosome 2 Β· 2q11.2
NCBI Gene: 51239Ensembl: ENSG00000213337.10HGNC: HGNC:28640UniProt: Q53RE8
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
molecular_functionbiological_processcellular_componentdiabetes mellitusmetabolic syndromemathematical abilityHematemesis
✦AI Summary

Based on limited published evidence, ANKRD39 is an ankyrin repeat domain-containing protein identified as a hub gene associated with Alzheimer's disease (AD) pathology. ANKRD39 was identified among 15 hub genes in a weighted gene correlation network analysis of AD, where it correlated with reduced autophagy-related gene expression and dysregulation of key signaling pathways including RAP1, PI3K-AKT, and autophagy pathways 1. Additionally, ANKRD39 was identified as one of seven differentially expressed genes most significantly altered in AD brain tissue and validated as a potential drug target through deep learning analysis 2. The protein's specific molecular function remains to be elucidated.

Sources cited
1
ANKRD39 identified as hub gene in AD-associated gene network correlated with autophagy dysfunction
PMID: 31816601
2
ANKRD39 identified as one of seven most significantly differentially expressed genes in AD brain tissue
PMID: 38995776
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
diabetes mellitusOpen Targets
0.24Weak
metabolic syndromeOpen Targets
0.07Suggestive
mathematical abilityOpen Targets
0.03Suggestive
HematemesisOpen Targets
0.03Suggestive
pernicious anemiaOpen Targets
0.02Suggestive
bipolar disorderOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
appendicitisOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
ependymomaOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Liver
96%
Ovary
77%
Brain
71%
Lung
61%
Bone Marrow
38%
Gene Interaction Network
Click a node to explore
ANKRD39SMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q53RE8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.38LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.64–1.38]
RankingsWhere ANKRD39 stands among ~20K protein-coding genes
  • #14,920of 20,598
    Most Researched17
  • #14,339of 17,882
    Most Constrained (LOEUF)1.38
Genes detectedANKRD39
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification of molecular correlations of RBM8A with autophagy in Alzheimer's disease.
PMID: 31816601
Aging (Albany NY) Β· 2019
1.00
2
Screening Targets and Therapeutic Drugs for Alzheimer's Disease Based on Deep Learning Model and Molecular Docking.
PMID: 38995776
J Alzheimers Dis Β· 2024
0.50