TMEM50B Gene: Transmembrane Protein 50B – Structure, Expression, and Clinical Relevance
A comprehensive biomedical overview of TMEM50B, including genomic context, tissue expression, mutations, and disease associations.
Gene Information Card
| Symbol | TMEM50B |
|---|---|
| Full Name | Transmembrane protein 50B |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 757 ncbi.nlm.nih.gov/gene/757 |
| Ensembl ID | ENSG00000160224 |
| UniProt ID | Q9Y2Y4 |
| OMIM ID | 617245 |
| HGNC ID | 1189 |
| Aliases | C21orf4, DKFZp586H2123 |
Description
TMEM50B (Transmembrane Protein 50B) is a protein-coding gene located on chromosome 21q22.11. It encodes a small transmembrane protein with unknown function, but it is evolutionarily conserved. TMEM50B is expressed in various tissues, with notable levels in the brain, kidney, and testis. Its exact biological role remains under investigation, but it may be involved in cellular signaling or membrane trafficking. No direct disease association has been firmly established, but alterations in expression have been observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential role in tumor progression | COSMIC data shows somatic mutations in some cancer samples, but no clear driver role. |
| No specific Mendelian disease | No established pathogenic variants | OMIM does not list a clinical phenotype for TMEM50B. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.7 | Low |
| Liver | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 8.2 | Moderate expression in cervical cancer cells |
| A549 | 6.4 | Low expression in lung carcinoma cells |
| MCF7 | 5.8 | Low expression in breast cancer cells |
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; predicted benign by in silico tools |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% (gnomAD) | Unknown; not reported in ClinVar |
| c.789delC (p.Pro264fs) | Frameshift | Rare | Predicted loss-of-function; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, but no clinical phenotype has been linked.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • membrane |
| • protein binding |
Pathways
• No known canonical pathways; may be involved in membrane trafficking or signal transduction.
Protein Summary
TMEM50B is a small transmembrane protein of 264 amino acids. It contains a conserved transmembrane domain and is predicted to localize to the plasma membrane or intracellular membranes. Its function is not well characterized, but it may play a role in cell adhesion or receptor signaling. Structural studies suggest it forms a homodimer. Further research is needed to elucidate its physiological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM50B Knockout HEK293 Cell Line | EDJ-KQ4172 | Human | 757 | Details Get a Quote |
| TMEM50B Knockout HeLa Cell Line | EDJ-KQ18255 | Human | 757 | Details Get a Quote |
| TMEM50B Knockout HCT 116 Cell Line | EDJ-KQ25285 | Human | 757 | Details Get a Quote |
| TMEM50B Knockout A-549 Cell Line | EDJ-KQ26610 | Human | 757 | Details Get a Quote |
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