Aliases for WASHC2A Gene

Aliases for WASHC2A Gene

  • WASH Complex Subunit 2A 2 3 4 5
  • Family With Sequence Similarity 21, Member B 2 3
  • Family With Sequence Similarity 21 Member A 2 3
  • FAM21A 3 4
  • FAM21B 3 4
  • Family With Sequence Similarity 21, Member A 2
  • WASH Complex Subunit FAM21A 3
  • WASH Complex Subunit FAM21B 3
  • Alternative Protein FAM21B 3
  • BA56A21.1 3
  • BA98I6.1 3

External Ids for WASHC2A Gene

Previous HGNC Symbols for WASHC2A Gene

  • FAM21B
  • FAM21A

Summaries for WASHC2A Gene

GeneCards Summary for WASHC2A Gene

WASHC2A (WASH Complex Subunit 2A) is a Protein Coding gene. Among its related pathways are Endocytosis. An important paralog of this gene is WASHC2C.

UniProtKB/Swiss-Prot Summary for WASHC2A 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. 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. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L.

Additional gene information for WASHC2A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WASHC2A Gene

Genomics for WASHC2A Gene

GeneHancer (GH) Regulatory Elements for WASHC2A Gene

Promoters and enhancers for WASHC2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WASHC2A on UCSC Golden Path with GeneCards custom track

Genomic Locations for WASHC2A Gene

Genomic Locations for WASHC2A Gene
chr10:50,067,888-50,133,509
(GRCh38/hg38)
Size:
65,622 bases
Orientation:
Plus strand
chr10:47,894,023-47,949,417
(GRCh37/hg19)
Size:
55,395 bases
Orientation:
Plus strand

Genomic View for WASHC2A Gene

Genes around WASHC2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC2A Gene

Proteins for WASHC2A Gene

  • Protein details for WASHC2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q641Q2-WAC2A_HUMAN
    Recommended name:
    WASH complex subunit 2A
    Protein Accession:
    Q641Q2
    Secondary Accessions:
    • A2A3S2
    • A2A3U6
    • Q5SNT6
    • Q6DHY0

    Protein attributes for WASHC2A Gene

    Size:
    1341 amino acids
    Molecular mass:
    147184 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 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. Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with CCDC93, CCDC22, VPS35L; indicative for an association of the WASH core complex with the CCC and retriever complexes (PubMed:25355947). Directly interacts with TBC1D23 (PubMed:29084197).
    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=CAI17187.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for WASHC2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASHC2A Gene

Post-translational modifications for WASHC2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WASHC2A Gene

Domains & Families for WASHC2A Gene

Gene Families for WASHC2A Gene

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

Protein Domains for WASHC2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASHC2A Gene

GenScript: Design optimal peptide antigens:
  • Family with sequence similarity 21, member A (B1AP61_HUMAN)
  • FAM21A protein (B7ZME8_HUMAN)
  • WASH complex subunit FAM21A (FA21A_HUMAN)
  • WASH complex subunit FAM21B (FA21B_HUMAN)
  • Family with sequence similarity 21, member B (Q5SNT8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q641Q2

UniProtKB/Swiss-Prot:

WAC2A_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 WASHC2A: view

Function for WASHC2A Gene

Molecular function for WASHC2A 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. 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. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L.

Phenotypes From GWAS Catalog for WASHC2A Gene

Gene Ontology (GO) - Molecular Function for WASHC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29084197
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with WASHC2A: view
genes like me logo Genes that share phenotypes with WASHC2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for WASHC2A Gene

Localization for WASHC2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC2A Gene

Early endosome membrane. Cell 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 WASHC2A gene
Compartment Confidence
nucleus 5
endosome 4
cytosol 4
plasma membrane 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for WASHC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005768 endosome IEA --
GO:0005769 early endosome ISS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with WASHC2A: view

Pathways & Interactions for WASHC2A Gene

PathCards logo

SuperPathways for WASHC2A Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC2A: view

Pathways by source for WASHC2A Gene

1 KEGG pathway for WASHC2A Gene

Gene Ontology (GO) - Biological Process for WASHC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0036010 protein localization to endosome IMP 28892079
GO:0042147 retrograde transport, endosome to Golgi ISS --
genes like me logo Genes that share ontologies with WASHC2A: view

No data available for SIGNOR curated interactions for WASHC2A Gene

Drugs & Compounds for WASHC2A Gene

No Compound Related Data Available

Transcripts for WASHC2A Gene

mRNA/cDNA for WASHC2A Gene

(4) REFSEQ mRNAs :
(24) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC2A

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC2A Gene

No ASD Table

Relevant External Links for WASHC2A Gene

GeneLoc Exon Structure for
WASHC2A
ECgene alternative splicing isoforms for
WASHC2A

Expression for WASHC2A Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC2A Gene:

WASHC2A

Evidence on tissue expression from TISSUES for WASHC2A Gene

  • Liver(4.3)
  • Spleen(4.2)
  • Eye(4.1)
  • Nervous system(2.5)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 WASHC2A Gene

Orthologs for WASHC2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for WASHC2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC738985 32
  • 98.98 (n)
FAM21C 33
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC477751 32
  • 86.4 (n)
-- 33
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM21A 32
  • 84.03 (n)
-- 33
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam21 33 32
  • 79.91 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam21c 32
  • 79.21 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM21A 33 32
  • 62.57 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam21a 32
  • 58.35 (n)
zebrafish
(Danio rerio)
Actinopterygii fam21c 33 32
  • 54.59 (n)
OneToMany
Species where no ortholog for WASHC2A 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 WASHC2A Gene

ENSEMBL:
Gene Tree for WASHC2A (if available)
TreeFam:
Gene Tree for WASHC2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WASHC2A: view image

Paralogs for WASHC2A Gene

Paralogs for WASHC2A Gene

Pseudogenes.org Pseudogenes for WASHC2A Gene

genes like me logo Genes that share paralogs with WASHC2A: view

Variants for WASHC2A Gene

Sequence variations from dbSNP and Humsavar for WASHC2A Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1002684003 -- 50,127,481(+) C/T intron_variant
rs1002733233 -- 50,127,967(+) G/A intron_variant
rs1003856501 -- 50,128,155(+) C/T intron_variant
rs1005935530 -- 50,132,247(+) C/T genic_downstream_transcript_variant, intron_variant
rs1006765327 -- 50,133,271(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for WASHC2A Gene

Variant ID Type Subtype PubMed ID
dgv123e214 CNV gain 21293372
dgv138e199 CNV deletion 23128226
dgv233e212 CNV loss 25503493
dgv234e212 CNV loss 25503493
dgv853n100 CNV gain 25217958
esv23741 CNV gain 19812545
esv24278 CNV gain 19812545
esv2663818 CNV deletion 23128226
esv2858235 CNV deletion 24192839
esv3578875 CNV loss 25503493
nsv1037778 CNV gain 25217958
nsv1039808 CNV gain 25217958
nsv1051087 CNV loss 25217958
nsv1052504 CNV loss 25217958
nsv1068697 CNV deletion 25765185
nsv1069482 CNV deletion 25765185
nsv1131000 CNV deletion 24896259
nsv1143508 CNV deletion 24896259
nsv471356 CNV gain 19718026
nsv821088 CNV deletion 20802225
nsv825377 CNV loss 20364138
nsv831868 CNV loss 17160897
nsv947953 CNV duplication 23825009
nsv947955 CNV duplication 23825009
nsv947956 CNV duplication 23825009
nsv947987 CNV duplication 23825009
nsv948000 CNV duplication 23825009
nsv948001 CNV duplication 23825009
nsv948002 CNV duplication 23825009
nsv950962 CNV deletion 24416366

Additional Variant Information for WASHC2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for WASHC2A Gene

Disorders for WASHC2A Gene

Additional Disease Information for WASHC2A

No disorders were found for WASHC2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WASHC2A Gene

Publications for WASHC2A Gene

  1. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. (PMID: 29084197) Shin JJH … Munro S (Nature cell biology 2017) 3 4 56
  2. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 3 4 56
  3. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. (PMID: 30890647) Viita T … Vartiainen MK (Journal of cell science 2019) 3 56
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56

Products for WASHC2A Gene

Sources for WASHC2A Gene