KIAA0408 Gene: Function, Expression, and Clinical Significance
Comprehensive resource for KIAA0408 (HGNC:21636) including genomic context, expression, mutations, and related diseases.
Gene Information Card
| Symbol | KIAA0408 |
|---|---|
| Full Name | KIAA0408 |
| Gene Type | gene with protein product |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 9729 ncbi.nlm.nih.gov/gene/9729 |
| Ensembl ID | ENSG00000189367 |
| UniProt ID | Q6ZU52 |
| OMIM ID | 619236 |
| HGNC ID | HGNC:21636 |
| Aliases | Not available |
Description
KIAA0408 is a protein-coding gene located on chromosome 6q22.33. The gene is also known by its HGNC ID HGNC:21636 and is associated with the UniProt accession Q6ZU52. While the full function of the KIAA0408 protein is not yet fully characterized, it is expressed in various tissues and may play a role in cellular processes. Mutations in KIAA0408 have been linked to certain diseases, and ongoing research aims to elucidate its biological significance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not specified | Unknown | No curated disease association found in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.1 | Low |
| Lung | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| MCF7 | 6.2 | 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 |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in KIAA0408.
Gain of Function (GOF)
No evidence for gain-of-function mutations in KIAA0408.
Dominant Negative (DN)
No evidence for dominant-negative mutations in KIAA0408.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: unknown | • Biological process: unknown |
| • Cellular component: unknown |
Protein Summary
The KIAA0408 protein is predicted to be a multi-pass membrane protein based on its amino acid sequence. It may be involved in signal transduction or transport processes, but experimental validation is lacking. Further studies are needed to determine its precise function and interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA0408 Knockout HEK293 Cell Line | EDJ-KQ6058 | Human | 9729 | Details Get a Quote |
| KIAA0408 Knockout A-549 Cell Line | EDJ-KQ31091 | Human | 9729 | Details Get a Quote |
| KIAA0408 Knockout HeLa Cell Line | EDJ-KQ55240 | Human | 9729 | Details Get a Quote |
| KIAA0408 Knockout HCT 116 Cell Line | EDJ-KQ72181 | Human | 9729 | Details Get a Quote |
