FAM219A Gene: Family with Sequence Similarity 219 Member A
Comprehensive genomic and proteomic analysis of FAM219A, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | FAM219A |
|---|---|
| Full Name | Family with sequence similarity 219 member A |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 219 ncbi.nlm.nih.gov/gene/219 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9H0E2 |
| OMIM ID | 617870 |
| HGNC ID | 25900 |
| Aliases | C9orf86, FLJ11273 |
Description
FAM219A (family with sequence similarity 219 member A) is a protein-coding gene located on chromosome 9p13.3. The encoded protein has no well-characterized function but is predicted to be involved in cellular processes. Expression data indicate broad tissue distribution with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.8 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Moderate expression |
| HeLa | 6.1 | Low expression |
| K562 | 4.3 | Low expression |
| SH-SY5Y | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: unknown | • biological_process: unknown |
| • cellular_component: cytoplasm (inferred) |
Pathways
• No curated pathways
Protein Summary
The FAM219A protein (UniProt Q9H0E2) is 244 amino acids long with no known domains or motifs. Its function remains uncharacterized, though it is predicted to localize to the cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM219A Knockout HEK293 Cell Line | EDJ-KQ5483 | Human | 203259 | Details Get a Quote |
| FAM219A Knockout A-549 Cell Line | EDJ-KQ28702 | Human | 203259 | Details Get a Quote |
| FAM219A Knockout HCT 116 Cell Line | EDJ-KQ28703 | Human | 203259 | Details Get a Quote |
| FAM219A Knockout HeLa Cell Line | EDJ-KQ28704 | Human | 203259 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
