HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
5 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.
ARMCX5
armadillo repeat containing X-linked 5
Chromosome X · Xq22.1
NCBI Gene: 64860Ensembl: ENSG00000125962.17HGNC: HGNC:25772UniProt: Q6P1M9
29PubMed Papers
15Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingAlzheimer diseaseneoplasmbreast carcinomaseptic shock
✦AI Summary

ARMCX5 (armadillo repeat containing X-linked 5) is an X-chrX protein belonging to the GPRASP/ARMCX family, characterized by armadillo-like repeats in its carboxyl-terminal region 1. As a subfamily 1 member, ARMCX5 mediates protein-protein interactions, with several interacting partners identified that regulate cellular physiology 1. ARMCX5 demonstrates disease relevance across multiple pathological contexts. In Alzheimer's disease, ARMCX5 emerged as a key gene associated with M1 macrophage infiltration in the prefrontal cortex, with differential expression validated in both independent datasets and 5XFAD transgenic mice 2. In breast carcinoma, ARMCX5 is enriched in high-grade tumors and associated with potential drug resistance mechanisms (p < 0.0001) 3. Clinically, deletions encompassing ARMCX5 cause the Xq22.1 deletion syndrome, with male patients presenting severe phenotypes including respiratory failure, cleft palate, and neonatal lethality, while heterozygous females exhibit seizures, cleft palate, and developmental delays 4 5. Loss of the 0.35 Mb sub-region containing ARMCX5 is sufficient to cause this syndrome's primary manifestations 4. These findings identify ARMCX5 as a critical regulator of neuroinflammation, tumor biology, and developmental processes, with therapeutic potential in neurodegenerative and malignant diseases.

Sources cited
1
ARMCX5 identified as key gene associated with AD and M1 macrophage infiltration in prefrontal cortex with differential expression validated in independent datasets and 5XFAD mice
PMID: 34975305
2
ARMCX5 enriched in high-grade breast carcinoma tumors with potential role in drug resistance (p < 0.0001)
PMID: 41503337
3
ARMCX5 is subfamily 1 GPRASP/ARMCX protein with armadillo-like repeats; multiple interacting partners regulate cellular physiology and disease processes
PMID: 33267763
4
0.35 Mb deletion containing ARMCX5 causes Xq22.1 syndrome with respiratory failure, cleft palate, and seizures; male mice show neonatal lethality from pulmonary hypoplasia
PMID: 24569167
5
ARMCX5 deletion in males associates with multiple congenital abnormalities and respiratory failure; heterozygous females have intellectual disability and dysmorphic features
PMID: 26995686
Disease Associationsⓘ15
Alzheimer diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.01Suggestive
septic shockOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
stomach neoplasmOpen Targets
0.00Suggestive
Pick diseaseOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
AutoimmunityOpen Targets
0.00Suggestive
Down syndromeOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPRASP2Co-mentioned in literature40%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
98%
Brain
86%
Liver
84%
Heart
62%
Lung
57%
Gene Interaction Network
Click a node to explore
ARMCX5GPRASP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6P1M9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.13 [0.05–0.63]
RankingsWhere ARMCX5 stands among ~20K protein-coding genes
  • #12,098of 20,598
    Most Researched29
  • #4,497of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedARMCX5
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Identification of Immune Cells and Key Genes associated with Alzheimer's Disease.
PMID: 34975305
Int J Med Sci · 2022
1.00
2
Unveiling Novel Genetic Mutations and Prognostic Indicators in Breast Carcinoma: An Analysis of The Cancer Genome Atlas (TCGA) Data.
PMID: 41503337
Cureus · 2025
0.80
3
GPRASP/ARMCX Protein Family: Potential Involvement in Health and Diseases Revealed by their Novel Interacting Partners.
PMID: 33267763
Curr Top Med Chem · 2021
0.60
4
A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure.
PMID: 26995686
Eur J Med Genet · 2016
0.40
5
Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.
PMID: 24569167
Hum Mol Genet · 2014
0.20