WASHC2C
WASH Complex Subunit 2C
Gene Information Card
| Symbol | WASHC2C |
|---|---|
| Full Name | WASH Complex Subunit 2C |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 253725 ncbi.nlm.nih.gov/gene/253725 |
| Ensembl ID | ENSG00000165609 |
| UniProt ID | Q9Y6E7 |
| OMIM ID | 613632 |
| HGNC ID | 28993 |
| Aliases | FAM21C, WASH2C, C10orf11 |
Description
WASHC2C encodes a subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homolog) complex, which regulates actin polymerization on endosomes and is essential for endosomal trafficking, retromer-mediated cargo sorting, and cell migration. The protein localizes to endosomal membranes and interacts with the retromer complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and hypotonia | Loss of WASH complex function disrupts endosomal trafficking and actin dynamics, impairing neuronal development | ClinVar; PMID: 31006511 |
| Cancer (pan-cancer) | Altered expression of WASHC2C may affect cell migration and invasion via dysregulated endosomal actin polymerization | COSMIC; TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or start-loss variants may impair WASH complex assembly and endosomal trafficking.
Gain of Function (GOF)
No evidence of gain-of-function mutations in WASHC2C.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization | • endosomal transport |
| • protein localization to endosome | • WASH complex |
| • actin cytoskeleton organization |
Pathways
• WASH complex in endosomal trafficking
• Retromer-mediated cargo recycling
Protein Summary
WASHC2C (FAM21C) is a 1349-amino acid protein that contains a WASH complex subunit domain and a C-terminal tail that binds the retromer complex. It is essential for actin nucleation on endosomes, facilitating cargo sorting and vesicle formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASHC2C Knockout HEK293 Cell Line | EDJ-KQ11742 | Human | 253725 | Details Get a Quote |
| WASHC2C Knockout A-549 Cell Line | EDJ-KQ40114 | Human | 253725 | Details Get a Quote |
| WASHC2C Knockout HeLa Cell Line | EDJ-KQ38851 | Human | 253725 | Details Get a Quote |
| WASHC2C Knockout HCT 116 Cell Line | EDJ-KQ78040 | Human | 253725 | Details Get a Quote |
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