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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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F8A3
coagulation factor VIII associated 3
Chromosome X · Xq28
NCBI Gene: 474384Ensembl: ENSG00000277150.2HGNC: HGNC:31849UniProt: P23610
11PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
neurodegenerative diseaseHuntington diseasehemophilia Apleural neoplasm
✦AI Summary

F8A3 (coagulation factor VIII associated 3) is an X-chrX-encoded RAB5A effector molecule involved in early endosomal trafficking. As part of the HTT-F8A1/F8A2/F8A3-RAB5A complex, F8A3 mediates recruitment of HTT protein to early endosomes and regulates their interaction with the cytoskeleton by promoting actin filament association while inhibiting microtubule engagement, thereby reducing endosome motility. F8A3 is located in a genomic region adjacent to autism susceptibility loci and shows differential expression in Rett syndrome, a severe X-linked neurodevelopmental disorder. The gene is part of the F8 (coagulation factor VIII) locus structure, which is clinically significant for hemophilia A diagnosis, as F8A1, F8A2, and F8A3 comprise inversion breakpoint regions used in molecular detection of severe hemophilia A mutations. F8A3's role in intracellular trafficking suggests potential relevance to neurological function, though direct mechanistic links to disease pathogenesis remain incompletely characterized. Its proximity to X-chromosome X elements affecting nearby genes like SPRY3 indicates possible coordinated control of endosomal and neuronal signaling pathways.

Sources cited
1
F8A3 is a RAB5A effector mediating HTT recruitment to early endosomes and regulating endosome-cytoskeleton interactions
PMID: 16476778
2
F8A3 is located in the X chromosome F8A3-TMLHE region with implications for neurological development and autism susceptibility
PMID: 26089202
3
F8A3 shows differential expression in Rett syndrome across multiple neuronal developmental stages
PMID: 38027357
4
F8A2 and F8A3 comprise inversion breakpoint regions relevant to hemophilia A molecular diagnosis
PMID: 11593511
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ12
neurodegenerative diseaseOpen Targets
0.30Weak
Huntington diseaseOpen Targets
0.10Suggestive
hemophilia AOpen Targets
0.03Suggestive
pleural neoplasmOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.00Suggestive
venous thromboembolismOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
thrombophiliaOpen Targets
0.00Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HTTProtein interaction95%F8A1Protein interaction95%F8A2Protein interaction95%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
F8A3HTTF8A1F8A2
PROTEIN STRUCTURE
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PDB9PMW · 2.10 Å · EM
View on RCSB ↗
RankingsWhere F8A3 stands among ~20K protein-coding genes
  • #16,745of 20,598
    Most Researched11
Genes detectedF8A3
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.
PMID: 26089202
Hum Mol Genet · 2015
1.00
2
Comprehensive Transcriptomic Investigation of Rett Syndrome Reveals Increasing Complexity Trends from Induced Pluripotent Stem Cells to Neurons with Implications for Enriched Pathways.
PMID: 38027357
ACS Omega · 2023
0.67
3
PCR assay for the inversion causing severe Hemophilia A and its application.
PMID: 11593511
Chin Med J (Engl) · 1999
0.33