FAM90A18 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the FAM90A18 gene, including its genomic location, expression patterns, and potential implications in disease.
Gene Information Card
| Symbol | FAM90A18 |
|---|---|
| Full Name | family with sequence similarity 90 member A18 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 728833 ncbi.nlm.nih.gov/gene/728833 |
| Ensembl ID | ENSG00000235169 |
| UniProt ID | A6NMK5 |
| OMIM ID | Not available |
| HGNC ID | 37248 |
| Aliases | FLJ46257 |
Description
FAM90A18 (family with sequence similarity 90 member A18) 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 copies in the human genome. The gene encodes a protein of unknown function, but its expression has been detected in various tissues. The FAM90A family has been implicated in certain cancers and autoimmune diseases, though specific roles for FAM90A18 remain to be fully characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential involvement in tumorigenesis; FAM90A family members have been associated with cancer, but specific evidence for FAM90A18 is limited. | Inferred from family member studies; no direct ClinVar or COSMIC entries for FAM90A18. |
| Autoimmune diseases | FAM90A family may play a role in immune regulation; evidence for FAM90A18 is not established. | Inferred from family member studies; no direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | No data from GTEx or Human Protein Atlas for FAM90A18. |
| Thyroid | Not available | No data. |
| Skin | Not available | No data. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data available | Not available | No expression data in common cell lines. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not available | Not available | No variants reported in ClinVar or COSMIC for FAM90A18. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in FAM90A18.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Protein Summary
The FAM90A18 protein is predicted to be a member of the FAM90A family, which shares sequence similarity with the human endogenous retrovirus HERV-K envelope proteins. The protein's function is not well characterized, but it may be involved in cellular processes related to viral defense or immune response. No structural or functional data are available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM90A18 Knockout HEK293 Cell Line | EDJ-KQ13383 | Human | 441326 | Details Get a Quote |
| FAM90A18 Knockout A-549 Cell Line | EDJ-KQ42883 | Human | 441326 | Details Get a Quote |
| FAM90A18 Knockout HCT 116 Cell Line | EDJ-KQ42884 | Human | 441326 | Details Get a Quote |
| FAM90A18 Knockout HeLa Cell Line | EDJ-KQ42885 | Human | 441326 | Details Get a Quote |
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