FAM90A17: A Human-Specific Gene of the FAM90A Family with Limited Functional Annotation
Explore the genomic context, expression patterns, and current research status of FAM90A17, a poorly characterized gene in the human genome.
Gene Information Card
| Symbol | FAM90A17 |
|---|---|
| Full Name | family with sequence similarity 90 member A17 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 100132417 ncbi.nlm.nih.gov/gene/100132417 |
| Ensembl ID | ENSG00000235141 |
| UniProt ID | A6NMY6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:44555 |
| Aliases | FAM90A17P (pseudogene), but current HGNC indicates protein-coding |
Description
FAM90A17 is a protein-coding gene located on human chromosome 8p23.1. It belongs to the FAM90A gene family, which is characterized by a variable number of copies in the human genome, often associated with segmental duplications. The gene is poorly characterized, and its function remains largely unknown. FAM90A17 is predicted to encode a protein with no known functional domains, and its expression is low across tissues. The gene is part of a complex genomic region that has been implicated in genomic instability and copy number variations, but specific disease associations have not been established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM; limited literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Skin | 0.2 | Low |
| Other tissues | Not detected | Below threshold |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.1 | Very low |
| K562 | 0.0 | Not detected |
| A549 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | Not applicable | Not applicable | No data in COSMIC or ClinVar |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations or phenotypes.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Protein Summary
The FAM90A17 protein is predicted to be a small, uncharacterized protein. It lacks any known functional domains or motifs. Its sequence is similar to other FAM90A family members, which are thought to be involved in protein-protein interactions, but no specific function has been experimentally validated for FAM90A17. The protein is likely localized to the nucleus or cytoplasm, but this has not been confirmed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM90A17 Knockout HEK293 Cell Line | EDJ-KQ13382 | Human | 728746 | Details Get a Quote |
| FAM90A17 Knockout A-549 Cell Line | EDJ-KQ42880 | Human | 728746 | Details Get a Quote |
| FAM90A17 Knockout HCT 116 Cell Line | EDJ-KQ42881 | Human | 728746 | Details Get a Quote |
| FAM90A17 Knockout HeLa Cell Line | EDJ-KQ42882 | Human | 728746 | Details Get a Quote |
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