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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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F8A1
coagulation factor VIII associated 1
Chromosome X · Xq28
NCBI Gene: 8263Ensembl: ENSG00000277150.2HGNC: HGNC:31849UniProt: P23610
39PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingearly endosomenucleuscytoplasmneurodegenerative diseaseHuntington diseaseneuroblastomaneoplasm
✦AI Summary

F8A1 (coagulation factor VIII associated 1) is an X-linked gene whose primary function remains incompletely characterized, though cellular localization studies suggest roles in intracellular trafficking and protein homeostasis. Based on Gene Ontology annotations, F8A1 localizes to the nucleus, early endosomes, and nuclear bodies, with predicted involvement in vesicle-cytoskeletal trafficking, endosomal transport, and negative regulation of proteasomal protein degradation [from GO annotations]. F8A1 is structurally associated with the Factor VIII gene locus; it lies adjacent to F8A2/F8A3 and can be disrupted by intragenic inversions that cause severe hemophilia A 1. Clinically, F8A1 expression is regulated by genetic variation with disease relevance. A genome-wide eQTL study identified rs35975601 as a strong expression quantitative trait locus (eSNP) associated with F8A1 expression (p=3×10⁻²⁰) that shows linkage disequilibrium with a type 1 diabetes risk variant 2. This finding suggests F8A1 expression variation may contribute to complex disease susceptibility through molecular mechanisms that remain to be elucidated. The functional significance of F8A1 in disease pathogenesis and its potential therapeutic relevance require further investigation.

Sources cited
1
rs35975601 is a strong eSNP associated with F8A1 expression and is in linkage disequilibrium with a type 1 diabetes risk variant
PMID: 27155841
2
F8A1 is located adjacent to F8A2/F8A3 and can be disrupted by intragenic inversions causing severe hemophilia A
PMID: 11593511
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ7
neurodegenerative diseaseOpen Targets
0.50Moderate
Huntington diseaseOpen Targets
0.10Suggestive
neuroblastomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
F8A2Protein interaction100%HTTProtein interaction96%F8A3Protein interaction95%F8Protein interaction89%ALS2CLShared pathway50%ANXA8L1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Liver
56%
Lung
23%
Ovary
16%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
F8A1F8A2HTTF8A3F8ALS2CLANXA8L1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P23610
View on AlphaFold ↗
RankingsWhere F8A1 stands among ~20K protein-coding genes
  • #10,318of 20,598
    Most Researched39
Genes detectedF8A1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits.
PMID: 27155841
Hum Genet · 2016
1.00
2
Development and characterization of a specific IgG monoclonal antibody toward the Lewis x antigen using splenocytes of Schistosoma mansoni-infected mice.
PMID: 23542315
Glycobiology · 2013
0.67
3
PCR assay for the inversion causing severe Hemophilia A and its application.
PMID: 11593511
Chin Med J (Engl) · 1999
0.33