VPS26B
VPS26 retromer complex component B
Gene Information Card
| Symbol | VPS26B |
|---|---|
| Full Name | VPS26 retromer complex component B |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 112936 ncbi.nlm.nih.gov/gene/112936 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q5VZK9 |
| OMIM ID | 610027 |
| HGNC ID | 28113 |
| Aliases | VPS26L, VPS26B, MGC12972 |
Description
VPS26B encodes a component of the retromer complex, which is involved in retrograde transport of cargo from endosomes to the trans-Golgi network. The protein is essential for endosomal sorting and recycling of transmembrane receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Impaired retromer function may disrupt APP trafficking and amyloid-beta production | PMID: 21817065 |
| Parkinson disease | Retromer dysfunction affects LRRK2 and α-synuclein pathways | PMID: 24722207 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.3 | High expression |
| SH-SY5Y | 14.1 | Moderate expression |
| HeLa | 9.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Ala166Val) | Missense | <0.01% | Unknown functional impact |
| c.103G>A (p.Gly35Arg) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair retromer assembly or cargo binding
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein transport | • endosomal transport |
| • retromer complex | • protein binding |
Pathways
• Retromer-mediated endosomal sorting
• Endosome to Golgi transport
Protein Summary
VPS26B is a 336-amino acid protein that forms part of the retromer cargo-selective complex. It interacts with VPS35 and VPS29 to mediate endosomal sorting of transmembrane proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS26B Knockout HEK293 Cell Line | EDJ-KQ7401 | Human | 112936 | Details Get a Quote |
| VPS26B Knockout A-549 Cell Line | EDJ-KQ32562 | Human | 112936 | Details Get a Quote |
| VPS26B Knockout HCT 116 Cell Line | EDJ-KQ32563 | Human | 112936 | Details Get a Quote |
| VPS26B Knockout HeLa Cell Line | EDJ-KQ32564 | Human | 112936 | Details Get a Quote |
