WASHC2A
WASH Complex Subunit 2A
Gene Information Card
| Symbol | WASHC2A |
|---|---|
| Full Name | WASH Complex Subunit 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NMY6 |
| OMIM ID | 613632 |
| HGNC ID | 37232 |
| Aliases | FAM21, WASH2P, C10orf11 |
Description
WASHC2A encodes a subunit of the WASH (Wiskott-Aldrich syndrome protein and SCAR homolog) complex, which activates the Arp2/3 complex to promote actin polymerization on endosomal membranes. This process is critical for endosomal sorting, trafficking, and receptor recycling. The protein localizes to early and recycling endosomes and is essential for maintaining proper endosomal morphology and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (autosomal recessive) | Loss-of-function mutations in WASHC2A disrupt WASH complex assembly, impairing endosomal actin nucleation and leading to defective neuronal endosomal trafficking. | PMID: 28965846 |
| Neurodevelopmental disorder with microcephaly | Biallelic WASHC2A variants cause reduced WASH complex stability, affecting cortical neuron migration and brain size. | PMID: 28965846 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 11.2 | Neuroblastoma cell line |
| HeLa | 7.5 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Premature stop codon; loss of protein function |
| c.1543G>A (p.Gly515Arg) | Missense | Rare | Impaired WASH complex assembly and endosomal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent WASHC2A protein, resulting in defective endosomal actin polymerization.
Gain of Function (GOF)
No gain-of-function mutations reported for WASHC2A.
Dominant Negative (DN)
No dominant-negative mutations reported for WASHC2A.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization (GO:0030036) | • endocytic recycling (GO:0032456) |
| • clathrin-coated endocytic vesicle (GO:0045334) | • plasma membrane (GO:0005886) |
| • transport vesicle (GO:0030133) |
Pathways
• WASH complex in endosomal trafficking (Reactome: R-HSA-917937)
• Arp2/3 complex-mediated actin nucleation (Reactome: R-HSA-5663222)
Protein Summary
WASHC2A (also known as FAM21) is a 1349-amino-acid protein that serves as a key scaffold within the WASH complex. It contains a long intrinsically disordered region and a C-terminal domain that anchors the complex to endosomal membranes via interaction with the retromer. WASHC2A recruits the Arp2/3 complex to endosomes, driving actin polymerization necessary for cargo sorting and tubule formation. Loss of WASHC2A leads to endosomal enlargement and trafficking defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASHC2A Knockout HEK293 Cell Line | EDJ-KQ16126 | Human | 387680 | Details Get a Quote |
| WASHC2A Knockout A-549 Cell Line | EDJ-KQ46069 | Human | 387680 | Details Get a Quote |
| WASHC2A Knockout HCT 116 Cell Line | EDJ-KQ47297 | Human | 387680 | Details Get a Quote |
| WASHC2A Knockout HeLa Cell Line | EDJ-KQ47298 | Human | 387680 | Details Get a Quote |
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