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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WASHC4
WASH complex subunit 4
Chromosome 12 Β· 12q23.3
NCBI Gene: 23325Ensembl: ENSG00000136051.15HGNC: HGNC:29174UniProt: A0A087X256
72PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endosomal transportBLOC-1 complexprotein bindingendosome organizationautosomal recessive non-syndromic intellectual disabilityIntellectual disabilitymathematical abilityAbnormality of the skeletal system
✦AI Summary

WASHC4 (WASH complex subunit 4) is a core component of the WASH complex that functions as a nucleation-promoting factor at endosomal membranes 1. It recruits and activates the Arp2/3 complex to promote actin polymerization, facilitating the fission of tubular transport intermediates during endosome sorting 1. WASHC4 also interacts with VCP/p97 to regulate autophagy-mediated proteostasis, particularly in striated muscle 2. Recessive WASHC4 mutations cause autosomal recessive intellectual developmental disorder 43, characterized by moderate-to-mild intellectual disability, short stature, dysmorphic features, and macrocephaly 13. More recent evidence reveals broader neurological involvement: WASHC4 destabilization drives endo-lysosomal dysfunction leading to cognitive and progressive motor deficits in both mice and humans 4. Proteomic studies confirm dysregulation of neuromuscular-axis proteins and impaired skeletal muscle protein processing in affected patients 3. Genome-wide association studies identify WASHC4 variants associated with abnormalities of speech or vocalization in pediatric populations 5 and reward system reactivity in the ventral tegmental area and nucleus accumbens 6. These findings establish WASHC4 as essential for endosomal-lysosomal function with critical roles in neurodevelopment, motor function, and protein homeostasis across multiple tissues.

Sources cited
1
WASHC4 mutations cause autosomal recessive intellectual disability with short stature, dysmorphic features, and macrocephaly; WASH complex regulates tubule fission during endosome sorting
PMID: 31953988
2
WASHC4 mutations destabilize the WASH complex, cause endo-lysosomal dysfunction, and result in cognitive and progressive motor deficits in mice and humans
PMID: 33749590
3
WASHC4 interacts with VCP and regulates autophagy-mediated proteostasis in striated muscle; loss of WASHC4 causes muscle dysfunction without affecting proteasome function
PMID: 30010465
4
WASHC4 variants expand clinical spectrum to include skeletal muscle involvement; proteomic analysis reveals dysregulation of neuromuscular-axis proteins and impaired muscle protein processing
PMID: 34599609
5
WASHC4 variants are associated with abnormalities of speech or vocalization in pediatric populations
PMID: 38712155
6
WASHC4 variants in endosomal sorting gene set are associated with reward system reactivity in ventral tegmental area and nucleus accumbens
PMID: 41081810
Disease Associationsβ“˜21
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.61Moderate
Intellectual disabilityOpen Targets
0.34Weak
mathematical abilityOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.21Weak
genetic disorderOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
injuryOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
Intellectual developmental disorder, autosomal recessive 43UniProt
Pathogenic Variants11
NM_015275.3(WASHC4):c.2556dup (p.Phe853fs)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2025β†’ Residue 853
NM_015275.3(WASHC4):c.1666C>T (p.Arg556Ter)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2024β†’ Residue 556
NM_015275.3(WASHC4):c.1786C>T (p.Arg596Ter)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2023β†’ Residue 596
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2022β†’ Residue 712
NM_015275.3(WASHC4):c.1374del (p.Met458fs)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2022β†’ Residue 458
NM_015275.3(WASHC4):c.1038+1G>TLikely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2019
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)Likely pathogenic
Intellectual disability, autosomal recessive 43
β˜…β˜†β˜†β˜†2019β†’ Residue 1079
NM_015275.3(WASHC4):c.1214dup (p.Tyr405Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 405
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter)Pathogenic
Intellectual disability, autosomal recessive 43
β˜†β˜†β˜†β˜†2022β†’ Residue 442
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly)Pathogenic
Intellectual disability, autosomal recessive 43
β˜†β˜†β˜†β˜†2022β†’ Residue 1048
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg)Pathogenic
Intellectual disability, autosomal recessive 43
β˜†β˜†β˜†β˜†2011β†’ Residue 1019
View on ClinVar β†—
Related Genes
CAPZA1Protein interaction100%CAPZBProtein interaction100%CAPZA2Protein interaction97%CCDC93Protein interaction85%FKBP15Protein interaction80%WASHC5Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
66%
Heart
61%
Ovary
60%
Liver
57%
Brain
39%
Gene Interaction Network
Click a node to explore
WASHC4CAPZA1CAPZBCAPZA2CCDC93FKBP15WASHC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2M389
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.36–0.64]
RankingsWhere WASHC4 stands among ~20K protein-coding genes
  • #6,599of 20,598
    Most Researched72
  • #2,764of 5,498
    Most Pathogenic Variants11
  • #4,590of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedWASHC4
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
PMID: 31953988
Am J Med Genet A Β· 2020
1.00
2
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
PMID: 33749590
Elife Β· 2021
0.88
3
FOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms.
PMID: 31893575
Cancer Med Β· 2020
0.75
4
Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo.
PMID: 30010465
Autophagy Β· 2018
0.63
5
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
PMID: 34599609
J Pathol Β· 2022
0.50