| Name | coagulation factor VIII-associated 3 |
| Description | This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The available evidence indicates that the “F8A3” designation refers to one member of the factor VIII–associated gene family located in the Xq28 region. In the context of hemophilia A, one or more F8A copies (including F8A3) lie within or near the 9.5‐kb “intron 22 homologous” region that, via intrachromosomal recombination, can invert portions of the factor VIII gene and lead to its disruption in severe cases (see, for example"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In addition, mapping studies have shown that members of the F8A gene family are genetically linked to other nearby X‐linked loci, further underscoring their potential involvement in chromosomal rearrangements that cause bleeding disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Notably, in a seemingly different biological setting, F8A3 has emerged as a component of a prognostic RNA signature in neuroblastoma; its expression level was found to correlate with recognized clinical and genetic risk factors (including MYCN amplification) and with overall outcome in pediatric patients."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Although the precise molecular function of the F8A3 product remains to be fully defined, its involvement both in the genomic rearrangements underlying a major congenital coagulopathy and as a part of a gene expression signature in cancer suggests that its roles may be context dependent—contributing either structurally through recombination‐mediated genomic rearrangements or as a biologically informative transcript in malignancy. \n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "J Liu, Q Liu, Y Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PCR assay for the inversion causing severe Hemophilia A and its application."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chin Med J (Engl) (1999)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11593511"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11593511"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "C Ononye, P V Jenkins "}, {"type": "b", "children": [{"type": "t", "text": "Inversion mutation analysis in hemophilia a by restriction enzyme analysis and southern blotting."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Methods Mol Med (1999)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1385/1-59259-248-1:151"}], "href": "https://doi.org/10.1385/1-59259-248-1:151"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21340991"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21340991"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yin-Xia Li, Yan-Biao Hu, Jie Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Linkage analysis of five genes in pigs using radiation hybrid clone panel]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Yi Chuan (2006)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16606593"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16606593"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "PeiPei Zhang, KeXin Ma, XiaoFei Ke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Development and Validation of a Five-RNA-Based Signature and Identification of Candidate Drugs for Neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fgene.2021.685646"}], "href": "https://doi.org/10.3389/fgene.2021.685646"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34745201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34745201"}]}]}]}
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| NCBI Gene ID | 474384 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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F8A3 has 789 functional associations with biological entities spanning 6 categories (molecular profile, functional term, phrase or reference, chemical, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 36 datasets.
Click the + buttons to view associations for F8A3 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of F8A3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of F8A3 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of F8A3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of F8A3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of F8A3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing F8A3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing F8A3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with F8A3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with F8A3 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with F8A3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with F8A3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of F8A3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of F8A3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing F8A3 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of F8A3 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of F8A3 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of F8A3 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of F8A3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of F8A3 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of F8A3 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of F8A3 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of F8A3 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of F8A3 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of F8A3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of F8A3 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of F8A3 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting F8A3 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of F8A3 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of F8A3 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of F8A3 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of F8A3 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of F8A3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of F8A3 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of F8A3 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with F8A3 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving F8A3 protein from the Wikipathways Pathways 2014 dataset. | |
