TMEM232: Transmembrane Protein 232
A poorly characterized transmembrane protein with potential roles in ciliary function and genetic disorders.
Gene Information Card
| Symbol | TMEM232 |
|---|---|
| Full Name | Transmembrane Protein 232 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 642597 ncbi.nlm.nih.gov/gene/642597 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q5T8I9 |
| OMIM ID | 617831 |
| HGNC ID | 34478 |
| Aliases | MGC16384, FLJ46320 |
Description
TMEM232 encodes a transmembrane protein of unknown function. It is predicted to be a multi-pass membrane protein localized to the cell membrane or ciliary structures. Expression data suggest broad but low-level tissue distribution. The gene has been implicated in ciliopathies and neurodevelopmental disorders based on rare variant studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy-related disorder | Disruption of ciliary function due to TMEM232 mutations | ClinVar: rare missense variants in patients with ciliary dysfunction |
| Neurodevelopmental disorder | Potential impact on neuronal cilia signaling | OMIM: variants associated with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 1.2 | Low |
| Kidney | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| HeLa | 1.1 | Low expression |
| K562 | 0.7 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No evidence of gain-of-function.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• No curated pathways available.
Protein Summary
TMEM232 is a 232-amino acid transmembrane protein with multiple predicted membrane-spanning domains. Its exact function is unknown, but it may be involved in ciliary assembly or signaling. The protein is conserved in vertebrates and shows low expression across tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM232 Knockout HEK293 Cell Line | EDJ-KQ15822 | Human | 642987 | Details Get a Quote |
| TMEM232 Knockout HeLa Cell Line | EDJ-KQ60535 | Human | 642987 | Details Get a Quote |
| TMEM232 Knockout A-549 Cell Line | EDJ-KQ69005 | Human | 642987 | Details Get a Quote |
| TMEM232 Knockout HCT 116 Cell Line | EDJ-KQ77363 | Human | 642987 | Details Get a Quote |
