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Aliases for WASHC2A Gene

Aliases for WASHC2A Gene

  • WASH Complex Subunit 2A 2 3 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 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, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 and C16orf62. 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 (By similarity).

Additional gene information for WASHC2A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASHC2A Gene

Genomics for WASHC2A Gene

Regulatory Elements for WASHC2A Gene

Enhancers for WASHC2A 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
GH10H050067 1.1 ENCODE 94.6 +0.2 204 1.5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF416 ZNF143 WASHC2A LINC00843 ERCC6 AGAP6 PARG RNA5SP317 MAPK6PS6 PGGT1BP1 LOC100421009 ENSG00000261368
GH10H050051 0.9 Ensembl 43.4 -15.4 -15407 1 ELF3 FOXA2 ARID4B RARA THAP11 HMG20B SP5 CEBPB PPARG KAT8 WASHC2A GC10P050048 PIR32938 FAM21EP
GH10H050586 1.5 Ensembl ENCODE dbSUPER 22.5 +518.8 518801 1.2 HNRNPUL1 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 FOS ATF7 CAVIN1 WASHC2A RNA5SP317 LINC00843 AGAP6 BEND3P1 SGMS1 GC10M050591 GC10P050546
GH10H049253 1.3 FANTOM5 Ensembl ENCODE 23.2 -813.3 -813309 1.3 BCOR HDGF MCM3 MTA2 TSC22D4 CDC5L ZNF48 MEF2D NONO DIDO1 LINC00843 WASHC2A RNA5SP317 ERCC6 C10orf128 C10orf71-AS1 VSTM4 GC10P049274
GH10H050618 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +554.5 554498 8.4 ZFP64 DMAP1 YY1 ZNF143 SP3 ZNF610 GLIS1 NBN NR2C1 KDM1A AGAP6 LINC00843 BEND3P1 PARG SGMS1-AS1 RNU7-107P WASHC2A RNA5SP317 GC10P050620 GC10P050623
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC2A on UCSC Golden Path with GeneCards custom track

Promoters for WASHC2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000027945 112 1601 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF416

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)

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, C16orf62; indicative for an association of the WASH core complex with the CCC complex (By similarity).
    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:

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, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 and C16orf62. 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 (By similarity).

Phenotypes From GWAS Catalog for WASHC2A Gene

Gene Ontology (GO) - Molecular Function for WASHC2A Gene

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

Phenotypes for WASHC2A Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

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
cytosol 4
endosome 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

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:0006810 transport IEA --
GO:0015031 protein transport IEA --
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

(20) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

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 33
  • 98.98 (n)
FAM21C 34
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC477751 33
  • 86.4 (n)
-- 34
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM21A 33
  • 84.03 (n)
-- 34
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam21 33 34
  • 79.91 (n)
rat
(Rattus norvegicus)
Mammalia Fam21c 33
  • 79.21 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM21A 33 34
  • 62.57 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam21a 33
  • 58.35 (n)
zebrafish
(Danio rerio)
Actinopterygii fam21c 33 34
  • 54.59 (n)
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)

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 Sequence Context AA Info Type
rs1002684003 -- 50,127,481(+) CCTCT(C/T)GTATT intron-variant
rs1002733233 -- 50,127,967(+) ATCCT(A/G)CACCT intron-variant
rs1003856501 -- 50,128,155(+) GCATT(C/T)GGGCT intron-variant
rs1005935530 -- 50,132,247(+) TAAAT(C/T)ATGGT intron-variant
rs1006765327 -- 50,133,271(+) AGAGA(C/T)AGCAA utr-variant-3-prime

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

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

Relevant External Links 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

Relevant External Links for WASHC2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  2. FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatus. (PMID: 26956659) Lee S … Blackstone C (Nature communications 2016) 3 60
  3. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E … Raught B (Molecular & cellular proteomics : MCP 2015) 3 60
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for WASHC2A Gene

Sources for WASHC2A Gene

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