WASHC4 (WASH complex subunit 4)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23325
Gene name WASH complex subunit 4
Gene symbol WASHC4
Synonyms (NCBI Gene)
KIAA1033MRT43SWIP
Chromosome 12
Chromosome location 12q23.3
Summary This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multipl
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs35267264 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
rs201428088 A>G,T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs587777411 C>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs748436953 A>G Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs1064797173 ->A Likely-pathogenic Non coding transcript variant, stop gained, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32353859, 33060197, 36217030
GO:0005654 Component Nucleoplasm IDA
GO:0005768 Component Endosome IBA
GO:0005768 Component Endosome IDA 20923837
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615748 29174 ENSG00000136051
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M389
Protein name WASH complex subunit 4 (Strumpellin and WASH-interacting protein) (SWIP) (WASH complex subunit SWIP)
Protein function 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14745 WASH-7_N 32 → 604 WASH complex subunit 7, N-terminal Family
PF14744 WASH-7_mid 605 → 949 WASH complex subunit 7 Family
PF14746 WASH-7_C 966 → 1135 WASH complex subunit 7, C-terminal Family
Sequence 
MAVETLSPDWEFDRVDDGSQKIHAEVQLKNYGKFLEEYTSQLRRIEDALDDSIGDVWDFN
LDPIALKLLPYEQSSLLELIKTENKVLNKVITVYAALCCEIKKLKYEAETKFYNGLLFYG
EGATDASMVEGDCQIQMGRFISFLQELSCFVTRCYEVVMNVVHQLAALYISNKIAPKIIE
TTGVHFQTMYEHLGELLTVLLTLDEIIDNHITLKDHWTMYKRLLKSVHHNPSKFGIQEEK
LKPFEKFLLKLEGQLLDGMIFQACIEQQFDSLNGGVSVSKNSTFAEEFAHSIRSIFANVE
AKLGEPSEIDQRDKYVGICGLFVLHFQIFRTIDKKFYKSLLDICKKVPAITLTANIIWFP
DNFLIQKIPAAAKLLDRKSLQAIKIHRDTFLQQKAQSLTKDVQSYYVFVSSWMMKMESIL
SKEQRMDKFAEDLTNRCNVFIQGFLYAYSISTIIKTTMNLYMSMQKPMTKTSVKALCRLV
ELLKAIEHMFYRRSMVVADSVSHITQHLQHQALHSISVAKKRVISDKKYSEQRLDVLSAL
VLAENTLNGPSTKQRRLIVSLALSVGTQMKTFKDEELFPLQVVMKKLDLISELRERVQTQ
CDCCFLYWHRAVFPIYLDDVYENAVDAARLHYMFSALRDCVPAMMHARHLESYEILLDCY
DKEIMEILNEHLLDKLCKEIEKDLRLSVHTHLKLDDRNPFKVGMKDLALFFSLNPIRFFN
RFIDIRAYVTHYLDKTFYNLTTVALHDWATYSEMRNLATQRYGLVMTEAHLPSQTLEQGL
DVLEIMRNIHIFVSRYLYNLNNQIFIERTSNNKHLNTINIRHIANSIRTHGTGIMNTTVN
FTYQFLKKKFYIFSQFMYDEHIKSRLIKDIRFFREIKDQNDHKYPFDRAEKFNRGIRKLG
VTPEGQSYLDQFRQLISQIGNAMGYVRMIRSGGLHCSSNAIRFVPDLEDIVNFEELVKEE
GLAEETLKAARHLDSVLSDHTRNSAEGTEYFKMLVDVFAPEFRRPKNIHLRNFYIIVPPL
TLNFVEHSISCKEKLNKKNKIGAAFTDDGFAMGVAYILKLLDQYREFDSLHWFQSVREKY
LKEIRAVAKQQNVQSASQDEKLLQTMNLTQKRLDVYLQEFELLYFSLSSARIFFRADKTA
AEENQEKKEKEEETKTSNGDLSDSTVSADPVVK
Sequence length 1173
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal recessive 43 Pathogenic; Likely pathogenic rs587777411, rs2135773055, rs1212552985, rs2502632564, rs2502685643, rs748436953, rs1881282106 RCV000119809
RCV002267714
RCV002267715
RCV002470164
RCV002510342
RCV000857314
RCV001291735
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs369971764 RCV005939317
Cervical cancer Likely benign; Benign rs779310701, rs3763992 RCV005911001
RCV005911574
Clear cell carcinoma of kidney Likely benign; Benign rs779310701, rs148407312 RCV005911002
RCV005904576
Familial cancer of breast Benign rs148407312 RCV005904575
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 22673115
Penile Neoplasms Associate 23341933