TMEM179B: A Transmembrane Protein with Emerging Roles in Cellular Signaling
Comprehensive genomic, expression, and mutation analysis of TMEM179B, a poorly characterized gene implicated in cancer and neurodevelopmental processes.
Gene Information Card
| Symbol | TMEM179B |
|---|---|
| Full Name | Transmembrane Protein 179B |
| Gene Type | Protein-coding |
| Chromosomal Location | Chr 11q14.3 (GRCh38) |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000255330 |
| UniProt ID | A6NMY6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37223 |
| Aliases | C11orf85, FLJ46365 |
Description
TMEM179B encodes a transmembrane protein with unknown function. It is predicted to contain transmembrane domains and is expressed in various tissues. Recent studies suggest involvement in cancer progression and neurodevelopment, but detailed functional characterization is lacking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential oncogenic role | COSMIC, literature |
| Neurodevelopmental disorders | Expression in brain; possible role in neuronal signaling | GTEx, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.1 | Low |
| Kidney | 2.8 | Low |
| Liver | 1.5 | Low |
| Heart | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 4.5 | Leukemia cell line |
| HeLa | 3.2 | Cervical cancer |
| A549 | 2.1 | Lung cancer |
| MCF7 | 1.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Unknown |
| c.789del (p.Val264fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • membrane |
| • cellular_component |
Protein Summary
TMEM179B is a 264-amino acid protein with predicted transmembrane domains. Its function is unknown, but it may be involved in cell signaling or transport. Expression data suggest tissue-specific roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM179B Knockout HEK293 Cell Line | EDJ-KQ12234 | Human | 374395 | Details Get a Quote |
| TMEM179B Knockout A-549 Cell Line | EDJ-KQ40995 | Human | 374395 | Details Get a Quote |
| TMEM179B Knockout HCT 116 Cell Line | EDJ-KQ40996 | Human | 374395 | Details Get a Quote |
| TMEM179B Knockout HeLa Cell Line | EDJ-KQ40997 | Human | 374395 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
