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Aliases for WASHC2C Gene

Aliases for WASHC2C Gene

  • WASH Complex Subunit 2C 2 3 5
  • Family With Sequence Similarity 21 Member C 2 3
  • Vaccinia Virus Penetration Factor 3 4
  • FAM21C 3 4
  • VPEF 3 4
  • WASH Complex Subunit FAM21C 3
  • KIAA0592 4
  • FAM21A 3

External Ids for WASHC2C Gene

Previous HGNC Symbols for WASHC2C Gene

  • FAM21C

Summaries for WASHC2C Gene

GeneCards Summary for WASHC2C Gene

WASHC2C (WASH Complex Subunit 2C) is a Protein Coding gene. Diseases associated with WASHC2C include Vaccinia. Among its related pathways are Endocytosis. An important paralog of this gene is WASHC2A.

UniProtKB/Swiss-Prot for WASHC2C Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 AND C16orf62 (PubMed:25355947). Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (PubMed:18550675).

Gene Wiki entry for WASHC2C Gene

Additional gene information for WASHC2C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASHC2C Gene

Genomics for WASHC2C Gene

Regulatory Elements for WASHC2C Gene

Enhancers for WASHC2C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H046522 1.4 Ensembl ENCODE 97.5 +797.5 797499 3 HDGF ARNT SIN3A YBX1 ZNF2 ZBTB7B ZNF766 ZNF207 ZNF143 FOS PARGP1 BMS1P1 AGAP4 AGAP9 WASHC2C AGAP10P LOC105378289 FAM21FP ZFAND4 FAM35BP
GH10H044957 1.7 FANTOM5 ENCODE dbSUPER 37 -763.4 -763384 12 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 WASHC2C TMEM72-AS1 ZNF22 AGAP4 C10orf25 ENSG00000223462 ENSG00000234504 TMEM72 RASSF4 CEP164P1
GH10H044752 1.3 Ensembl ENCODE 37.7 -974.2 -974210 1 PKNOX1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 FOS KLF7 SP3 YY2 WASHC2C FAM21FP ZFAND4 HNRNPA3P1 RPS19P7 ANKRD54P1 RNU6-1207P OR6D1P ENSG00000227029 LINC00841
GH10H045726 1.1 ENCODE 37.2 +0.1 129 1 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS SP3 PARGP1 WASHC2C AGAP4 LOC105378289 ZFAND4 ENSG00000273363 AGAP10P C10orf10 ALOX5 FAM21FP
GH10H046555 1.3 Ensembl ENCODE dbSUPER 23.2 +829.5 829490 2 HDGF MXI1 ZNF175 SIN3A GLI4 ZIC2 ZFHX2 ZNF791 POLR2A PRDM10 BMS1P1 PARGP1 BMS1P2 AGAP9 WASHC2C AGAP10P AGAP4 ZFAND4 RHEBP1 GPRIN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC2C on UCSC Golden Path with GeneCards custom track

Promoters for WASHC2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000027499 200 1601 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS SP3

Genomic Location for WASHC2C Gene

Chromosome:
10
Start:
45,727,200 bp from pter
End:
45,792,964 bp from pter
Size:
65,765 bases
Orientation:
Plus strand

Genomic View for WASHC2C Gene

Genes around WASHC2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC2C Gene

Proteins for WASHC2C Gene

  • Protein details for WASHC2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4E1-WAC2C_HUMAN
    Recommended name:
    WASH complex subunit 2C
    Protein Accession:
    Q9Y4E1
    Secondary Accessions:
    • B4DZQ6
    • B9EK53
    • F5H0J6
    • F5H871
    • Q5SQU4
    • Q5SQU5
    • Q7L521
    • Q9UG79

    Protein attributes for WASHC2C Gene

    Size:
    1318 amino acids
    Molecular mass:
    144668 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5; in the complex interacts (via N-terminus) directly with WASHC1. The WASH core complex associates via WASHC2 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex (PubMed:19922875, PubMed:20498093). Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with CCDC93, CCDC22, C16orf62; indicative for an association of the WASH core complex with the CCC complex.
    Miscellaneous:
    • In human, WASHC2 has undergone evolutionary duplication, with 4 highly homologous family members existing, including WASHC2A, WASHC2C, and an N-terminally truncated WASHC2D form.
    SequenceCaution:
    • Sequence=AAH06456.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for WASHC2C Gene

neXtProt entry for WASHC2C Gene

Post-translational modifications for WASHC2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WASHC2C Gene

Domains & Families for WASHC2C Gene

Gene Families for WASHC2C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for WASHC2C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASHC2C Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4E1

UniProtKB/Swiss-Prot:

WAC2C_HUMAN :
  • The LFa (leucine-phenylalanine-acidic) motif bind directly to VPS35 of retromer CSC; adjacent motifs can act cooperatively to bind multiple CSCs, although there is significant variability in the affinities of different motifs for retromer.
  • Belongs to the FAM21 family.
Domain:
  • The LFa (leucine-phenylalanine-acidic) motif bind directly to VPS35 of retromer CSC; adjacent motifs can act cooperatively to bind multiple CSCs, although there is significant variability in the affinities of different motifs for retromer.
Family:
  • Belongs to the FAM21 family.
genes like me logo Genes that share domains with WASHC2C: view

Function for WASHC2C Gene

Molecular function for WASHC2C Gene

UniProtKB/Swiss-Prot Function:
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 AND C16orf62 (PubMed:25355947). Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (PubMed:18550675).

Phenotypes From GWAS Catalog for WASHC2C Gene

Gene Ontology (GO) - Molecular Function for WASHC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19922874
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 20498093
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 20498093
GO:0008289 lipid binding IEA --
GO:0010314 phosphatidylinositol-5-phosphate binding IDA 20498093
genes like me logo Genes that share ontologies with WASHC2C: view

Phenotypes for WASHC2C Gene

GenomeRNAi human phenotypes for WASHC2C:
genes like me logo Genes that share phenotypes with WASHC2C: view

Animal Model Products

CRISPR Products

miRNA for WASHC2C Gene

miRTarBase miRNAs that target WASHC2C

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WASHC2C Gene

Localization for WASHC2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC2C Gene

Early endosome membrane. Cell membrane. Note=Partially colocalizes with RAB11A, a recycling endosome marker. Associates with lipid raft microdomains on the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WASHC2C gene
Compartment Confidence
plasma membrane 5
endosome 5
nucleus 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoli (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WASHC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005768 endosome IDA 20923837
GO:0005769 early endosome IDA 19922874
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with WASHC2C: view

Pathways & Interactions for WASHC2C Gene

SuperPathways for WASHC2C Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC2C: view

Pathways by source for WASHC2C Gene

1 KEGG pathway for WASHC2C Gene

Gene Ontology (GO) - Biological Process for WASHC2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 19922874
GO:1900024 regulation of substrate adhesion-dependent cell spreading IDA 22070227
GO:1990126 retrograde transport, endosome to plasma membrane IMP 25278552
genes like me logo Genes that share ontologies with WASHC2C: view

No data available for SIGNOR curated interactions for WASHC2C Gene

Drugs & Compounds for WASHC2C Gene

No Compound Related Data Available

Transcripts for WASHC2C Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC2C Gene

No ASD Table

Relevant External Links for WASHC2C Gene

GeneLoc Exon Structure for
WASHC2C
ECgene alternative splicing isoforms for
WASHC2C

Expression for WASHC2C Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC2C Gene:

WASHC2C

Evidence on tissue expression from TISSUES for WASHC2C Gene

  • Kidney(4)
  • Liver(4)
  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with WASHC2C: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASHC2C Gene

Orthologs for WASHC2C Gene

This gene was present in the common ancestor of chordates.

Orthologs for WASHC2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC738985 33
  • 98.55 (n)
FAM21C 34
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC477751 33
  • 86.18 (n)
-- 34
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM21A 33
  • 83.73 (n)
-- 34
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam21 33 34
  • 79.71 (n)
Washc2 16
rat
(Rattus norvegicus)
Mammalia Fam21c 33
  • 79.01 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM21A 33 34
  • 62.77 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam21a 33
  • 58.85 (n)
zebrafish
(Danio rerio)
Actinopterygii fam21c 33 34
  • 54.48 (n)
Species where no ortholog for WASHC2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WASHC2C Gene

ENSEMBL:
Gene Tree for WASHC2C (if available)
TreeFam:
Gene Tree for WASHC2C (if available)

Paralogs for WASHC2C Gene

Paralogs for WASHC2C Gene

genes like me logo Genes that share paralogs with WASHC2C: view

Variants for WASHC2C Gene

Sequence variations from dbSNP and Humsavar for WASHC2C Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1002710851 -- 45,727,594(+) TTGCG(C/T)GCAGG intron-variant
rs1002763261 -- 45,727,764(+) ATGGG(C/G)TTTCT intron-variant
rs1003771820 -- 45,726,410(+) AGCAC(C/T)GTGGC upstream-variant-2KB
rs1005557567 -- 45,728,662(+) GAACG(C/T)GGGAG intron-variant
rs1006152615 -- 45,727,236(+) GCAGC(G/T)TGGCT upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for WASHC2C Gene

Variant ID Type Subtype PubMed ID
dgv114e214 CNV gain 21293372
esv23760 CNV gain+loss 19812545
esv2852680 CNV deletion 24192839
esv33964 CNV loss 17666407
nsv1076365 CNV duplication 25765185
nsv1118164 CNV deletion 24896259
nsv499498 OTHER inversion 21111241
nsv7202 OTHER inversion 18451855
nsv947914 CNV duplication 23825009
nsv947915 CNV duplication 23825009
nsv947916 CNV duplication 23825009
nsv947917 CNV duplication 23825009

Variation tolerance for WASHC2C Gene

Gene Damage Index Score: 8.49; 85.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WASHC2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASHC2C Gene

Disorders for WASHC2C Gene

MalaCards: The human disease database

(1) MalaCards diseases for WASHC2C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vaccinia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for WASHC2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC2C
genes like me logo Genes that share disorders with WASHC2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASHC2C Gene

Publications for WASHC2C Gene

  1. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (PMID: 20498093) Jia D … Billadeau DD (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 60
  2. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak CA … Burstein E (Molecular biology of the cell 2015) 3 4 60
  3. Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. (PMID: 25278552) McGough IJ … Cullen PJ (Journal of cell science 2014) 3 4 60
  4. Endosomal recruitment of the WASH complex: active sequences and mutations impairing interaction with the retromer. (PMID: 23331060) Helfer E … Gautreau A (Biology of the cell 2013) 3 4 60
  5. Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer. (PMID: 22513087) Jia D … Rosen MK (Molecular biology of the cell 2012) 3 4 60

Products for WASHC2C Gene

Sources for WASHC2C Gene

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