WASHC4

Chr 12q23.3

WASH complex subunit 4

Aliases:: SWIP
MANE:: ENST00000332180.10

OMIM: 615748 ↗NCBI: 23325 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

WASHC4 · Q2M389

v62025-08-01

Predicted Aligned Error matrix for WASHC4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.5/ 100

Confident

1,173 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)53%
Low(50–70)8%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive non-syndromic intellectual disability
0.61
Intellectual disability
0.34
mathematical ability
0.33
Abnormality of the skeletal system
0.21
hereditary disease
0.12
MODY
0.07
maturity-onset diabetes of the young type 3
0.06
genetic developmental and epileptic encephalopathy
0.05
glycogen storage disorder due to hepatic glycogen synthase deficiency
0.04
Glycogen storage disease due to hepatic glycogen synthase deficiency
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WASH complex subunit 4

Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting