UNC93A: A Gene Encoding a Potential Transmembrane Protein with Limited Functional Annotation
Comprehensive genomic and proteomic overview of UNC93A, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | UNC93A |
|---|---|
| Full Name | unc-93 homolog A (C. elegans) |
| Gene Type | protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 54346 ncbi.nlm.nih.gov/gene/54346 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q86WB0 |
| OMIM ID | 609924 |
| HGNC ID | 12571 |
| Aliases | UNC93, UNC93A1 |
Description
UNC93A encodes a protein with predicted transmembrane domains, homologous to the C. elegans unc-93 protein. Its precise function in humans is not fully characterized, but it may be involved in intracellular trafficking or signaling. Expression data suggest broad but low-level transcription in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Brain | 1.1 | Low |
| Lung | 0.8 | Low |
| Liver | 0.5 | Low |
| Kidney | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.5 | Low expression |
| HeLa | 0.9 | Low expression |
| K562 | 0.4 | Very 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)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GO:0016021 (integral component of membrane) | • GO:0005886 (plasma membrane) |
Pathways
• No curated pathways identified
Protein Summary
UNC93A is a 549-amino acid protein with multiple predicted transmembrane helices. It shares homology with the C. elegans UNC-93 protein, which is involved in neuronal function and muscle contraction. The human ortholog's function remains largely unknown, with no confirmed enzymatic activity or binding partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC93A Knockout HEK293 Cell Line | EDJ-KQ10723 | Human | 54346 | Details Get a Quote |
| UNC93A Knockout HeLa Cell Line | EDJ-KQ56408 | Human | 54346 | Details Get a Quote |
| UNC93A Knockout A-549 Cell Line | EDJ-KQ64901 | Human | 54346 | Details Get a Quote |
| UNC93A Knockout HCT 116 Cell Line | EDJ-KQ73345 | Human | 54346 | Details Get a Quote |
| UNC93A Knockout Huh-7 Cell Line | EDC07773 | Human | 54346 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
