FAM98A Gene - Function, Expression, and Disease Associations
Comprehensive biomedical overview of FAM98A (family with sequence similarity 98 member A), including genomic context, protein function, tissue expression, and clinical relevance.
Gene Information Card
| Symbol | FAM98A |
|---|---|
| Full Name | family with sequence similarity 98 member A |
| Gene Type | protein coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 25907 ncbi.nlm.nih.gov/gene/25907 |
| Ensembl ID | ENSG00000115155 |
| UniProt ID | Q8NCA5 |
| OMIM ID | 617258 |
| HGNC ID | 18423 |
| Aliases | DKFZp434B0328, FLJ12443 |
Description
FAM98A (family with sequence similarity 98 member A) is a protein-coding gene located on chromosome 2p22.3. The encoded protein is a component of the tRNA ligase complex and is involved in RNA processing and mRNA splicing. FAM98A is widely expressed in various tissues, with notable levels in the brain, testis, and kidney. While its precise biological role is still under investigation, studies suggest involvement in cellular stress responses and RNA metabolism. The gene is conserved across species, indicating fundamental cellular functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Cancer (pan-cancer) | Altered expression and potential role in tumorigenesis; specific mechanism not fully characterized. | COSMIC: observed somatic mutations and copy number alterations in various cancer types. |
| Neurodevelopmental disorders | Potential involvement due to high brain expression; direct causal link not established. | ClinVar: rare variants reported, but pathogenicity not confirmed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Brain (cerebral cortex) | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HeLa (cervical carcinoma) | 8.3 | Moderate expression |
| A549 (lung carcinoma) | 7.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 5.2 | Low expression |
| SH-SY5Y (neuroblastoma) | 12.0 | High expression relative to other lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.112C>T (p.Arg38Trp) | Missense | Rare (<0.01%) | Unknown; predicted possibly damaging by in silico tools. |
| c.457G>A (p.Val153Met) | Missense | Rare (<0.01%) | Unknown; not reported in ClinVar as pathogenic. |
| c.789_790insA (p.Gln264Thrfs*19) | Frameshift | Very rare | Predicted loss-of-function; may lead to nonsense-mediated decay. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating variants are predicted to cause loss-of-function, potentially impairing RNA processing functions. However, no homozygous loss-of-function phenotype has been documented in humans.
Gain of Function (GOF)
No evidence for gain-of-function mutations in FAM98A.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • via spliceosome (GO:0000398) |
| • tRNA ligase complex (GO:0009332) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• mRNA Splicing - Major Pathway
• tRNA processing
Protein Summary
The FAM98A protein (UniProt Q8NCA5) is a 341-amino acid protein that localizes to both the cytoplasm and nucleus. It is a subunit of the tRNA ligase complex, which is essential for RNA splicing and processing. The protein contains a conserved domain of unknown function (DUF729) and is involved in cellular stress responses. FAM98A interacts with other RNA-binding proteins and is thought to play a role in maintaining RNA homeostasis. Its expression is ubiquitous but enriched in tissues with high transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM98A Knockout HEK293 Cell Line | EDJ-KQ8314 | Human | 25940 | Details Get a Quote |
| FAM98A Knockout A-549 Cell Line | EDJ-KQ34290 | Human | 25940 | Details Get a Quote |
| FAM98A Knockout HCT 116 Cell Line | EDJ-KQ34291 | Human | 25940 | Details Get a Quote |
| FAM98A Knockout HeLa Cell Line | EDJ-KQ34292 | Human | 25940 | Details Get a Quote |
