FAM90A10 Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of the FAM90A10 gene, including its genomic location, expression patterns, and potential implications in disease.
Gene Information Card
| Symbol | FAM90A10 |
|---|---|
| Full Name | family with sequence similarity 90 member A10 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 653598 ncbi.nlm.nih.gov/gene/653598 |
| Ensembl ID | ENSG00000235169 |
| UniProt ID | Q6P3W7 |
| OMIM ID | Not available |
| HGNC ID | 33823 |
| Aliases | FAM90A10, family with sequence similarity 90 member A10 |
Description
FAM90A10 is a protein-coding gene located on chromosome 8p23.1. It is part of the FAM90A gene family, which is characterized by a variable number of tandem repeats. The gene is expressed in various tissues, with notable expression in the testis and certain brain regions. The function of the encoded protein is not fully characterized, but it is predicted to be involved in cellular processes. FAM90A10 has been implicated in certain cancers and neurodevelopmental conditions, though its exact role remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression and copy number variations may contribute to tumorigenesis. | COSMIC, literature |
| Neurodevelopmental disorders | Potential involvement in brain development and function. | Literature, expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.5 | Low |
| Brain (cortex) | 7.2 | Low |
| Lung | 4.1 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.6 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.8 | Very low expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% | Unknown; predicted benign |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Unknown; predicted possibly damaging |
| c.789del (p.Glu264fs) | Frameshift | Not reported | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to result in loss of function, potentially affecting cellular processes.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Pathways
• No known pathways
Protein Summary
The FAM90A10 protein is predicted to be a membrane-associated protein, but its exact function is unknown. It may play a role in cell signaling or structural integrity. Further studies are needed to elucidate its biological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM90A10 Knockout HEK293 Cell Line | EDJ-KQ13379 | Human | 441328 | Details Get a Quote |
| FAM90A10 Knockout A-549 Cell Line | EDJ-KQ41643 | Human | 441328 | Details Get a Quote |
| FAM90A10 Knockout HCT 116 Cell Line | EDJ-KQ42872 | Human | 441328 | Details Get a Quote |
| FAM90A10 Knockout HeLa Cell Line | EDJ-KQ42873 | Human | 441328 | Details Get a Quote |
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