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GeneE
4 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.
ANXA8L1
annexin A8 like 1
Chromosome 10 Β· 10q11.22
NCBI Gene: 728113Ensembl: ENSG00000264230.10HGNC: HGNC:23334UniProt: B4DTF2
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sarcolemmaphosphatidylserine bindingcalcium-dependent phospholipid bindingendosome organizationurinary bladder carcinomarenal cell carcinomaatherosclerosisovarian cancer
✦AI Summary

ANXA8L1 (annexin A8 like 1) is a calcium-dependent phospholipid-binding protein localized to the cytoplasm, endosomes, and sarcolemma that mediates endosomal transport and vesicle membrane organization 1. The protein functions in cellular processes including inflammation, proliferation, differentiation, and apoptosis 1. Disease Relevance: ANXA8L1 expression is significantly upregulated in renal cell carcinoma (RCC) compared to normal kidney tissues, where higher expression correlates with worse overall survival and higher clinical grades 1. In non-small cell lung cancer (NSCLC), ANXA8L1 was identified as one of six key prognostic enhancer RNAs associated with metastasis, demonstrating predictive utility for metastatic disease 2. In cervical cancer (CESC), ANXA8L1 expression was negatively correlated with patient survival time 3. Clinical Significance: ANXA8L1 serves as a potential biomarker for cancer prognosis across multiple malignancies. The protein was also identified as an autoantigen in pemphigus vulgaris, a mucocutaneous blistering disease, suggesting immune-mediated involvement in autoimmune pathology 4. These findings position ANXA8L1 as a relevant therapeutic target and diagnostic marker in both neoplastic and autoimmune disease contexts.

Sources cited
1
ANXA8L1 mRNA is significantly upregulated in RCC; higher expression correlates with worse overall survival; annexins mediate inflammation, proliferation, differentiation, apoptosis, and membrane repair
PMID: 37464398
2
ANXA8L1 identified as one of six key prognostic enhancer RNAs in NSCLC metastasis with predictive utility
PMID: 35807355
3
ANXA8L1 expression negatively correlated with survival time in cervical cancer (CESC)
PMID: 32351997
4
ANXA8L1 is recognized as an autoantigen by autoantibodies in pemphigus vulgaris patients
PMID: 23505434
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
urinary bladder carcinomaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
atherosclerosisOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
acute promyelocytic leukemiaOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
cervical cancerOpen Targets
0.03Suggestive
cholangiocarcinomaOpen Targets
0.03Suggestive
ovarian serous tumorOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
breast ductal carcinoma in situOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
cervical squamous cell carcinomaOpen Targets
0.02Suggestive
bladder tumorOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
antiphospholipid syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ANXA8Shared pathway100%WASHC4Shared pathway67%ALS2CLShared pathway50%F8A1Shared pathway33%DPY30Shared pathway33%ITSN2Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Liver
22%
Bone Marrow
10%
Ovary
6%
Brain
1%
Heart
0%
Gene Interaction Network
Click a node to explore
ANXA8L1ANXA8WASHC4ALS2CLF8A1DPY30ITSN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P13928
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.65–1.81]
RankingsWhere ANXA8L1 stands among ~20K protein-coding genes
  • #12,731of 20,598
    Most Researched26
  • #16,631of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedANXA8L1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Potential prognostic and therapeutic value of ANXA8 in renal cell carcinoma: based on the comprehensive analysis of annexins family.
PMID: 37464398
BMC Cancer Β· 2023
1.00
2
Prognostic Ability of Enhancer RNAs in Metastasis of Non-Small Cell Lung Cancer.
PMID: 35807355
Molecules Β· 2022
0.75
3
Pemphigus vulgaris autoantibody profiling by proteomic technique.
PMID: 23505434
PLoS One Β· 2013
0.50
4
The New Biomarker for Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (CESC) Based on Public Database Mining.
PMID: 32351997
Biomed Res Int Β· 2020
0.25