F8A2
Coagulation Factor VIII Associated 2
Gene Information Card
| Symbol | F8A2 |
|---|---|
| Full Name | Coagulation Factor VIII Associated 2 |
| Gene Type | Protein coding (pseudogene-like, non-coding RNA) |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 286826 ncbi.nlm.nih.gov/gene/286826 |
| Ensembl ID | ENSG00000204388 |
| UniProt ID | P23610 |
| OMIM ID | 300424 |
| HGNC ID | 3548 |
| Aliases | F8A, HAP40, F8-associated |
Description
F8A2 (coagulation factor VIII associated 2) is a gene located on chromosome Xq28, within the factor VIII gene intron 22 region. It is one of three highly homologous F8A genes (F8A1, F8A2, F8A3) that produce a non-coding RNA. F8A2 is primarily known for its role in the intron 22 inversion of the F8 gene, a common genetic cause of severe hemophilia A. The gene is expressed in various tissues, including the liver and blood cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemophilia A | Intron 22 inversion involving F8A2 disrupts F8 gene, causing factor VIII deficiency | ClinVar, OMIM #306700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.2 | Low |
| Whole Blood | 0.1 | Low |
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.2 | Low expression |
| K562 | 0.1 | Low expression |
| HeLa | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Intron 22 inversion | Structural variant | Common in severe hemophilia A | Disrupts F8 gene, leading to loss of factor VIII function |
Mutation functional classification
Loss of Function (LOF)
Intron 22 inversion causes loss of F8 function, leading to hemophilia A.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Protein Summary
F8A2 does not encode a functional protein; it produces a non-coding RNA. The UniProt entry P23610 corresponds to the F8A protein (HAP40), which is a small protein of unknown function, but current evidence indicates F8A2 is primarily a non-coding transcript. The protein product is not well characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| F8A2 Knockout HEK293 Cell Line | EDJ-KQ11961 | Human | 474383 | Details Get a Quote |
| F8A2 Knockout A-549 Cell Line | EDJ-KQ40503 | Human | 474383 | Details Get a Quote |
| F8A2 Knockout HCT 116 Cell Line | EDJ-KQ40504 | Human | 474383 | Details Get a Quote |
| F8A2 Knockout HeLa Cell Line | EDJ-KQ40505 | Human | 474383 | Details Get a Quote |
