KIAA0930
Uncharacterized protein KIAA0930; potential role in cellular processes
Gene Information Card
| Symbol | KIAA0930 |
|---|---|
| Full Name | KIAA0930 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23013 ncbi.nlm.nih.gov/gene/23013 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 617126 |
| HGNC ID | 29008 |
| Aliases | FLJ20032, MGC138499 |
Description
KIAA0930 is a protein-coding gene located on chromosome 22q13.1. The encoded protein is uncharacterized but is predicted to be involved in cellular processes. Limited functional data are available; expression is observed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The KIAA0930 protein is uncharacterized, with no known function or structure. It is predicted to be intracellular based on sequence analysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA0930 Knockout HEK293 Cell Line | EDJ-KQ7957 | Human | 23313 | Details Get a Quote |
| KIAA0930 Knockout A-549 Cell Line | EDJ-KQ33636 | Human | 23313 | Details Get a Quote |
| KIAA0930 Knockout HCT 116 Cell Line | EDJ-KQ33637 | Human | 23313 | Details Get a Quote |
| KIAA0930 Knockout HeLa Cell Line | EDJ-KQ33638 | Human | 23313 | Details Get a Quote |
