FAAP20 Gene - Fanconi Anemia Core Complex Associated Protein 20
Essential component of the Fanconi anemia DNA repair pathway
Gene Information Card
| Symbol | FAAP20 |
|---|---|
| Full Name | Fanconi anemia core complex associated protein 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 199990 ncbi.nlm.nih.gov/gene/199990 |
| Ensembl ID | ENSG00000185275 |
| UniProt ID | Q6NZ36 |
| OMIM ID | 615999 |
| HGNC ID | 26416 |
| Aliases | C1orf86, FAAP20 |
Description
FAAP20 encodes a protein that is a subunit of the Fanconi anemia (FA) core complex. This complex is essential for the monoubiquitination of FANCD2 and FANCI, a key step in the DNA interstrand crosslink (ICL) repair pathway. FAAP20 directly interacts with FANCA and is required for the stability and assembly of the FA core complex. Loss of FAAP20 function leads to cellular hypersensitivity to DNA crosslinking agents and genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group FAAP20 | Biallelic loss-of-function mutations in FAAP20 impair FA core complex assembly and FANCD2 monoubiquitination, causing defective ICL repair. | OMIM #615999; PMID: 24652989 |
| Acute myeloid leukemia (AML) | Somatic mutations or deletions of FAAP20 may contribute to clonal hematopoiesis and leukemogenesis in the context of FA pathway deficiency. | COSMIC; PMID: 27767027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lymph node | 5.1 | Low |
| Spleen | 4.8 | Low |
| Brain | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cell line |
| K562 | 9.7 | Chronic myeloid leukemia cell line |
| HeLa | 8.1 | Cervical carcinoma cell line |
| HepG2 | 6.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression; associated with Fanconi anemia |
| c.130C>T (p.Arg44*) | Nonsense | Rare | Premature truncation; loss of FANCA interaction |
| c.202_203del (p.Glu68fs) | Frameshift | Rare | Loss of function; genomic instability |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in FAAP20 cause Fanconi anemia complementation group FAAP20, characterized by bone marrow failure and cancer predisposition.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein localization to centrosome (GO:0071539) |
| • Fanconi anemia nuclear complex (GO:0043240) | • DNA repair (GO:0006281) |
| • interstrand cross-link repair (GO:0036297) |
Pathways
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• DNA interstrand crosslink repair (KEGG: hsa03460)
Protein Summary
FAAP20 is a 20 kDa protein that contains a ubiquitin-binding zinc finger (UBZ) domain and a C-terminal region that mediates interaction with FANCA. It is a stable component of the FA core complex and is required for the monoubiquitination of FANCD2. FAAP20 also localizes to centrosomes and may have additional roles in cell division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAAP20 Knockout HEK293 Cell Line | EDJ-KQ11713 | Human | 199990 | Details Get a Quote |
| FAAP20 Knockout A-549 Cell Line | EDJ-KQ40058 | Human | 199990 | Details Get a Quote |
| FAAP20 Knockout HCT 116 Cell Line | EDJ-KQ40059 | Human | 199990 | Details Get a Quote |
| FAAP20 Knockout HeLa Cell Line | EDJ-KQ40060 | Human | 199990 | Details Get a Quote |
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