TMEM14C
Transmembrane Protein 14C
Gene Information Card
| Symbol | TMEM14C |
|---|---|
| Full Name | Transmembrane Protein 14C |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 51522 ncbi.nlm.nih.gov/gene/51522 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9P0S9 |
| OMIM ID | 617204 |
| HGNC ID | 28438 |
| Aliases | MGC13170, HSPC194 |
Description
TMEM14C encodes a transmembrane protein of unknown function. It is predicted to be a component of cellular membranes, but its specific biological role has not been fully characterized. Expression data suggest broad tissue distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.5 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Moderate expression |
| HeLa | 6.3 | Low expression |
| K562 | 4.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data:
Gene Ontology (GO)
| • Cellular component: membrane (GO:0016021) | • Molecular function: molecular_function (GO:0003674) |
| • Biological process: biological_process (GO:0008150) |
Protein Summary
TMEM14C is a 142-amino acid transmembrane protein with a single predicted transmembrane domain. Its function remains unknown, and no disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM14C Knockout HEK293 Cell Line | EDJ-KQ11131 | Human | 51522 | Details Get a Quote |
| TMEM14C Knockout HCT 116 Cell Line | EDJ-KQ39119 | Human | 51522 | Details Get a Quote |
| TMEM14C Knockout HeLa Cell Line | EDJ-KQ39120 | Human | 51522 | Details Get a Quote |
| TMEM14C Knockout A-549 Cell Line | EDJ-KQ37806 | Human | 51522 | Details Get a Quote |