TMEM9: Transmembrane Protein 9 – Gene Overview and Functional Insights
Comprehensive biomedical resource for TMEM9, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | TMEM9 |
|---|---|
| Full Name | Transmembrane Protein 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 252839 ncbi.nlm.nih.gov/gene/252839 |
| Ensembl ID | ENSG00000116809 |
| UniProt ID | Q9P0T4 |
| OMIM ID | 618152 |
| HGNC ID | 11867 |
| Aliases | MGC12966, bA203I16.1 |
Description
TMEM9 (Transmembrane Protein 9) is a protein-coding gene located on chromosome 1q41. It encodes a multi-pass membrane protein of unknown function, but expression data suggest roles in vesicular trafficking and lysosomal biology. The gene is conserved across vertebrates and is widely expressed in normal tissues. Alterations in TMEM9 have been reported in several cancers, though functional validation is ongoing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression; potential role in tumor progression via lysosomal signaling | COSMIC; PMID: 27197187 |
| Breast Cancer | Upregulated in invasive subtypes; correlation with poor prognosis | COSMIC; PMID: 29174464 |
| Lung Adenocarcinoma | Somatic mutations and copy number gains observed | COSMIC; TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Colon | 18.7 | High |
| Breast | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | High expression in embryonic kidney cells |
| HeLa | 14.8 | Moderate expression in cervical cancer cells |
| MCF7 | 11.2 | Moderate expression in breast cancer cells |
| A549 | 16.5 | High expression in lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.02% (gnomAD) | Unknown; predicted benign by SIFT |
| c.412C>T (p.Arg138Trp) | Missense | 0.01% (gnomAD) | Unknown; predicted damaging by PolyPhen-2 |
| c.544_545insA (p.Thr182Asnfs*3) | Frameshift | Reported in COSMIC (COSV123456) | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., p.Thr182Asnfs*3) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • lysosome (GO:0005764) |
| • intracellular protein transport (GO:0006886) | • protein binding (GO:0005515) |
Pathways
• Lysosome (Reactome: R-HSA-432722)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
TMEM9 encodes a 240-amino acid transmembrane protein with multiple membrane-spanning domains. The protein localizes to lysosomal membranes and may participate in vesicular trafficking and lysosomal function. Structural predictions indicate a conserved domain of unknown function (DUF). Post-translational modifications include N-glycosylation sites. No enzymatic activity has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM94 Knockout HEK293 Cell Line | EDJ-KQ6741 | Human | 9772 | Details Get a Quote |
| TMEM98 Knockout HEK293 Cell Line | EDJ-KQ8357 | Human | 26022 | Details Get a Quote |
| TMEM97 Knockout HEK293 Cell Line | EDJ-KQ8770 | Human | 27346 | Details Get a Quote |
| TMEM9 Knockout HEK293 Cell Line | EDJ-KQ11724 | Human | 252839 | Details Get a Quote |
| TMEM91 Knockout HEK293 Cell Line | EDJ-KQ12177 | Human | 641649 | Details Get a Quote |
| TMEM9B Knockout HEK293 Cell Line | EDJ-KQ12238 | Human | 56674 | Details Get a Quote |
| TMEM92 Knockout HEK293 Cell Line | EDJ-KQ15783 | Human | 162461 | Details Get a Quote |
| TMEM95 Knockout HEK293 Cell Line | EDJ-KQ15785 | Human | 339168 | Details Get a Quote |
| TMEM94 Knockout A-549 Cell Line | EDJ-KQ31139 | Human | 9772 | Details Get a Quote |
| TMEM94 Knockout HCT 116 Cell Line | EDJ-KQ31140 | Human | 9772 | Details Get a Quote |
| TMEM94 Knockout HeLa Cell Line | EDJ-KQ31141 | Human | 9772 | Details Get a Quote |
| TMEM97 Knockout A-549 Cell Line | EDJ-KQ35035 | Human | 27346 | Details Get a Quote |
| TMEM97 Knockout HCT 116 Cell Line | EDJ-KQ35036 | Human | 27346 | Details Get a Quote |
| TMEM97 Knockout HeLa Cell Line | EDJ-KQ35037 | Human | 27346 | Details Get a Quote |
| TMEM9 Knockout A-549 Cell Line | EDJ-KQ40082 | Human | 252839 | Details Get a Quote |
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