TMEM9B
Transmembrane Protein 9B Domain Family Member B
Gene Information Card
| Symbol | TMEM9B |
|---|---|
| Full Name | Transmembrane Protein 9B Domain Family Member B |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 56889 ncbi.nlm.nih.gov/gene/56889 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9H6K4 |
| OMIM ID | 616447 |
| HGNC ID | 28727 |
| Aliases | C11orf15, TMEM9B, bA397O15.1 |
Description
TMEM9B (Transmembrane Protein 9B Domain Family Member B) is a protein-coding gene located on chromosome 11p15.4. The encoded protein is a single-pass type I membrane protein involved in lysosomal function and vesicular trafficking. It is widely expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression may affect lysosomal function and tumor progression | COSMIC, NCBI Gene |
| Breast Cancer | Overexpression associated with poor prognosis | COSMIC, NCBI Gene |
| Lung Cancer | Differential expression observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Heart | 10.1 | Medium |
| Lung | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| A549 | 9.0 | Low expression |
| MCF7 | 13.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional impact |
| c.345G>A (p.Val115Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • lysosome |
| • protein transport | • vesicle-mediated transport |
Pathways
• Lysosome
• Vesicle-mediated transport
Protein Summary
TMEM9B is a 245-amino acid single-pass type I membrane protein localized to lysosomes and endosomes. It contains a conserved TMEM9 domain and is involved in lysosomal acidification and protein trafficking. The protein is ubiquitously expressed with highest levels in brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM9B Knockout HEK293 Cell Line | EDJ-KQ12238 | Human | 56674 | Details Get a Quote |
| TMEM9B Knockout A-549 Cell Line | EDJ-KQ41002 | Human | 56674 | Details Get a Quote |
| TMEM9B Knockout HCT 116 Cell Line | EDJ-KQ41003 | Human | 56674 | Details Get a Quote |
| TMEM9B Knockout HeLa Cell Line | EDJ-KQ41004 | Human | 56674 | Details Get a Quote |
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