CHRFAM7A Gene
CHRNA7-FAM7A Fusion Gene
Gene Information Card
| Symbol | CHRFAM7A |
|---|---|
| Full Name | CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit) and FAM7A (family with sequence similarity 7A) fusion gene |
| Gene Type | Fusion gene (protein coding) |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 89832 ncbi.nlm.nih.gov/gene/89832 |
| Ensembl ID | ENSG00000166664 |
| UniProt ID | Q494W8 |
| OMIM ID | 609756 |
| HGNC ID | 24667 |
| Aliases | CHRNA7-FAM7A, D-10, CHRFAM7A |
Description
CHRFAM7A is a human-specific fusion gene located on chromosome 15q13.3, resulting from a partial duplication and fusion of the CHRNA7 gene (encoding the alpha-7 nicotinic acetylcholine receptor subunit) with the FAM7A gene. It encodes a hybrid protein that may modulate nicotinic receptor function. CHRFAM7A is expressed in the brain and immune cells and has been implicated in schizophrenia, Alzheimer disease, and bipolar disorder. The gene is not present in rodents, complicating functional studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered alpha-7 nicotinic receptor signaling; CHRFAM7A may act as a dominant-negative modulator of CHRNA7 function. | Genetic association studies; reduced expression in postmortem brain. |
| Alzheimer disease | Modulation of amyloid-beta toxicity and cholinergic signaling; CHRFAM7A variants linked to cognitive decline. | Case-control studies; functional assays in cell lines. |
| Bipolar disorder | Potential dysregulation of cholinergic neurotransmission; association with CHRFAM7A copy number variants. | GWAS and linkage analyses. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 2.5 | Low |
| Brain (hippocampus) | 1.8 | Low |
| Lung | 0.3 | Not detected |
| Whole blood | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
| U87MG (glioblastoma) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2839895 (c.497G>A) | SNV | 0.02 (global) | Missense; p.Arg166His; may alter protein function. |
| rs1065778 (c.1-52C>T) | SNV | 0.15 (global) | 5' UTR variant; potential effect on expression. |
| Copy number loss (exon 5-10 deletion) | CNV | Rare | Loss of functional domains; associated with schizophrenia. |
Mutation functional classification
Loss of Function (LOF)
Deletion of exons 5-10 leads to truncated protein lacking transmembrane domains; likely loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
CHRFAM7A protein may heteromerize with CHRNA7 and inhibit receptor function; dominant-negative effect proposed.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-activated cation-selective channel activity (GO:0004889) | • ion transport (GO:0006811) |
| • chemical synaptic transmission (GO:0007268) | • membrane (GO:0016020) |
| • postsynaptic membrane (GO:0045211) |
Pathways
• Nicotinic acetylcholine receptor signaling pathway
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The CHRFAM7A protein is a hybrid of the N-terminal ligand-binding domain of CHRNA7 and the C-terminal region of FAM7A. It lacks the canonical transmembrane domains of a functional ion channel and is thought to act as a dominant-negative regulator of the alpha-7 nicotinic receptor. The protein is expressed in the brain and immune cells, and its altered function is linked to neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRFAM7A Knockout HEK293 Cell Line | EDJ-KQ10517 | Human | 89832 | Details Get a Quote |
| CHRFAM7A Knockout A-549 Cell Line | EDJ-KQ37923 | Human | 89832 | Details Get a Quote |
| CHRFAM7A Knockout HCT 116 Cell Line | EDJ-KQ37924 | Human | 89832 | Details Get a Quote |
| CHRFAM7A Knockout HeLa Cell Line | EDJ-KQ37925 | Human | 89832 | Details Get a Quote |
