C9orf43: Chromosome 9 Open Reading Frame 43
A poorly characterized protein-coding gene with potential roles in cellular processes, implicated in certain cancers and developmental disorders.
Gene Information Card
| Symbol | C9orf43 |
|---|---|
| Full Name | chromosome 9 open reading frame 43 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 84974 ncbi.nlm.nih.gov/gene/84974 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q8N5A5 |
| OMIM ID | 617473 |
| HGNC ID | 26235 |
| Aliases | FLJ14640, bA203J24.7 |
Description
C9orf43 is a protein-coding gene located on the long arm of chromosome 9 (9q34.3). The gene spans approximately 12.5 kb and contains 10 exons. The encoded protein is 360 amino acids long with a predicted molecular weight of ~40 kDa. Its function is not fully characterized, but it is thought to be involved in cellular signaling or transcriptional regulation based on predicted domains and interaction data. C9orf43 is expressed in various tissues, with notable levels in the brain, testis, and kidney. Alterations in C9orf43 have been reported in certain cancers and neurodevelopmental conditions, though the clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic copy number alterations and mutations may contribute to tumorigenesis; exact mechanism unclear. | COSMIC database lists C9orf43 mutations in colorectal cancer samples. |
| Lung cancer | Mutations and expression changes observed; potential role in tumor progression. | COSMIC database includes C9orf43 variants in lung cancer. |
| Intellectual disability | Deletions or point mutations may affect neurodevelopment; haploinsufficiency suspected. | ClinVar reports pathogenic variants in patients with intellectual disability. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.7 | Low |
| Liver | 5.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; high expression |
| A549 | 9.8 | Lung carcinoma; moderate expression |
| HepG2 | 6.2 | Liver cancer; low expression |
| K562 | 3.4 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.456C>A (p.Tyr152*) | Nonsense | Rare (<0.01%) | Predicted to cause loss of function via premature truncation. |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; may lead to haploinsufficiency. |
| c.1024G>A (p.Ala342Thr) | Missense | 0.02% | Uncertain significance; may affect protein stability. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in loss of function, potentially contributing to disease phenotypes.
Gain of Function (GOF)
No evidence for gain-of-function mutations in C9orf43.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (GO:0005515) | • DNA-templated () (GO:0006355) |
| • Cellular component: nucleus () (GO:0005634) |
Pathways
• No curated pathways are available for C9orf43 in major databases.
Protein Summary
The C9orf43 protein is a 360-amino-acid polypeptide with no well-defined functional domains. It contains a predicted nuclear localization signal and several phosphorylation sites, suggesting a role in nuclear processes. Interaction studies indicate potential binding to transcription factors, but experimental validation is limited. The protein is conserved in mammals, indicating an important biological function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C9orf43 Knockout HEK293 Cell Line | EDJ-KQ11094 | Human | 257169 | Details Get a Quote |
| C9orf43 Knockout A-549 Cell Line | EDJ-KQ40286 | Human | 257169 | Details Get a Quote |
| C9orf43 Knockout HeLa Cell Line | EDJ-KQ59321 | Human | 257169 | Details Get a Quote |
| C9orf43 Knockout HCT 116 Cell Line | EDJ-KQ76169 | Human | 257169 | Details Get a Quote |
