F8A3
Coagulation Factor VIII Associated 3
Gene Information Card
| Symbol | F8A3 |
|---|---|
| Full Name | coagulation factor VIII associated 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 286826 ncbi.nlm.nih.gov/gene/286826 |
| Ensembl ID | ENSG00000204305 |
| UniProt ID | P23610 |
| OMIM ID | 305420 |
| HGNC ID | 3548 |
| Aliases | F8A, F8B, F8C |
Description
F8A3 (coagulation factor VIII associated 3) is a protein-coding gene located on chromosome Xq28. It is one of three related genes (F8A1, F8A2, F8A3) that are associated with the coagulation factor VIII gene. The encoded protein is involved in the regulation of factor VIII expression and function. Mutations in this gene are associated with hemophilia A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemophilia A | Mutations in F8A3 disrupt factor VIII function, leading to impaired blood coagulation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.5 | Low |
| Blood | 0.3 | Low |
| Spleen | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.4 | Low expression |
| K562 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Unknown |
| c.100C>T | nonsense | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations lead to truncated protein and loss of function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0007596 (GO:0007596) | • GO:0005576 (GO:0005576) |
Pathways
• Complement and coagulation cascades (KEGG:04610)
Protein Summary
The F8A3 protein is a small, secreted protein involved in the coagulation cascade. It is associated with factor VIII and may play a role in its stability or function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| F8A3 Knockout HEK293 Cell Line | EDJ-KQ11199 | Human | 474384 | Details Get a Quote |
| F8A3 Knockout HeLa Cell Line | EDJ-KQ40507 | Human | 474384 | Details Get a Quote |
| F8A3 Knockout A-549 Cell Line | EDJ-KQ68942 | Human | 474384 | Details Get a Quote |
| F8A3 Knockout HCT 116 Cell Line | EDJ-KQ77302 | Human | 474384 | Details Get a Quote |
