FANCA Gene
FA Complementation Group A
Gene Information Card
| Symbol | FANCA |
|---|---|
| Full Name | FA complementation group A |
| Gene Type | protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 2175 ncbi.nlm.nih.gov/gene/2175 |
| Ensembl ID | ENSG00000187741 |
| UniProt ID | Q9HBX2 |
| OMIM ID | 607139 |
| HGNC ID | 3582 |
| Aliases | FA, FA1, FAA, FACA, FA-H, FANCH |
Description
The FANCA gene encodes a protein that is a component of the Fanconi anemia (FA) core complex, which is essential for the repair of DNA interstrand crosslinks. Mutations in FANCA cause Fanconi anemia complementation group A, a disorder characterized by bone marrow failure, congenital abnormalities, and predisposition to cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group A | Loss-of-function mutations in FANCA disrupt the FA core complex, impairing DNA repair and leading to genomic instability. | ClinVar, OMIM |
| Acute myeloid leukemia | Defective DNA repair in FA patients increases risk of myeloid malignancies. | COSMIC, ClinVar |
| Squamous cell carcinoma | FA pathway deficiency contributes to cancer susceptibility, particularly head and neck SCC. | COSMIC, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 5.2 | Low |
| Testis | 8.1 | Medium |
| Lymph node | 6.3 | Medium |
| Spleen | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.5 | Cervical cancer cell line |
| K562 | 7.2 | Leukemia cell line |
| HEK293 | 5.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3788_3790delTCT | Deletion | Common in FA-A | Frameshift, loss of function |
| c.1115_1118delTTGG | Deletion | Recurrent | Frameshift, loss of function |
| c.2778+1G>A | Splice site | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FANCA mutations are loss-of-function, leading to truncated or unstable protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand cross-link repair |
| • Fanconi anemia core complex | • protein binding |
| • nucleus |
Pathways
• Fanconi anemia pathway
• DNA damage response
• Homologous recombination
Protein Summary
FANCA is a 1455-amino acid protein that localizes to the nucleus and is part of the FA core complex. It is required for monoubiquitination of FANCD2, a key step in DNA crosslink repair. The protein contains a nuclear localization signal and interacts with other FA proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCA Knockout HEK293 Cell Line | EDJ-KQ13446 | Human | 2175 | Details Get a Quote |
| FANCA Knockout A-549 Cell Line | EDJ-KQ43001 | Human | 2175 | Details Get a Quote |
| FANCA Knockout HCT 116 Cell Line | EDJ-KQ43002 | Human | 2175 | Details Get a Quote |
| FANCA Knockout HeLa Cell Line | EDJ-KQ41764 | Human | 2175 | Details Get a Quote |
| FANCA (p.T1328A) Point Mutation in HAP1 Cell Line | EDC03294 | Human | 2175 | Details Get a Quote |
| FANCA (p.L1269=) Point Mutation in HAP1 Cell Line | EDC03295 | Human | 2175 | Details Get a Quote |
| FANCA (p.P1218=) Point Mutation in HAP1 Cell Line | EDC03296 | Human | 2175 | Details Get a Quote |
| FANCA (p.S1088F) Point Mutation in HAP1 Cell Line | EDC03297 | Human | 2175 | Details Get a Quote |
| FANCA (p.S967=) Point Mutation in HAP1 Cell Line | EDC03301 | Human | 2175 | Details Get a Quote |
| FANCA (p.P643A) Point Mutation in HAP1 Cell Line | EDC03303 | Human | 2175 | Details Get a Quote |
| FANCA (p.A412V) Point Mutation in HAP1 Cell Line | EDC03305 | Human | 2175 | Details Get a Quote |
| FANCA (p.T381=) Point Mutation in HAP1 Cell Line | EDC03307 | Human | 2175 | Details Get a Quote |
| FANCA (c.3067-4T>C )Point Mutation in HAP1 Cell Line | EDC03298 | Human | 2175 | Details Get a Quote |
| FANCA (c.3067-23G>A )Point Mutation in HAP1 Cell Line | EDC03299 | Human | 2175 | Details Get a Quote |
| FANCA (c.3066+55A>G )Point Mutation in HAP1 Cell Line | EDC03300 | Human | 2175 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
