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WASHC2A WASH complex subunit 2A [ Homo sapiens (human) ]

Gene ID: 387680, updated on 3-Nov-2024

Summary

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Official Symbol
WASHC2Aprovided by HGNC
Official Full Name
WASH complex subunit 2Aprovided by HGNC
Primary source
HGNC:HGNC:23416
See related
Ensembl:ENSG00000099290 AllianceGenome:HGNC:23416
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM21A; FAM21B; bA98I6.1; bA56A21.1
Summary
Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 26.3), bone marrow (RPKM 21.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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See WASHC2A in Genome Data Viewer
Location:
10q11.23
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50067954..50133509)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50917598..50983160)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51827714..51893269)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TIMM23B-AGAP6 readthrough (NMD candidate) Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:51784655-51785155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:51787127-51787626 Neighboring gene family with sequence similarity 21, member A pseudogene Neighboring gene solute carrier family 9 member 3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2365 Neighboring gene solute carrier family 9 member 3 pseudogene 1 Neighboring gene N-acylsphingosine amidohydrolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2366 Neighboring gene Sharpr-MPRA regulatory region 2427

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites. Wang T, et al. DNA Repair (Amst), 2024 Jan. PMID 38029687
  2. FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatus. Lee S, et al. Nat Commun, 2016 Mar 9. PMID 26956659, Free PMC Article
  3. Nuclear IGF1R Interacts with Regulatory Regions of Chromatin to Promote RNA Polymerase II Recruitment and Gene Expression Associated with Advanced Tumor Stage. Aleksic T, et al. Cancer Res, 2018 Jul 1. PMID 29735545, Free PMC Article
  4. Identification of a novel Rev-interacting cellular protein. Kramer-Hämmerle S, et al. BMC Cell Biol, 2005 Apr 24. PMID 15847701, Free PMC Article
  5. Control of HIV replication in astrocytes by a family of highly conserved host proteins with a common Rev-interacting domain (Risp). Vincendeau M, et al. AIDS, 2010 Oct 23. PMID 20827171

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites.
    Title: FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites.
  2. Study reports that nuclear IGF1R associates with advanced tumor stage and is recruited selectively to regulatory regions of chromatin including JUN and FAM21A promoters. JUN and FAM21A identified as mediators of cell survival and IGF-induced migration, properties that tumors require to attain advanced stage.
    Title: Nuclear IGF1R Interacts with Regulatory Regions of Chromatin to Promote RNA Polymerase II Recruitment and Gene Expression Associated with Advanced Tumor Stage.
  3. SNX27 interaction with FAM21 is required for the precise localization of SNX27 at an endosomal subdomain.
    Title: FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatus.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Expression of the Risp family decreases the amounts of HIV-1 Gag expression in infected astrocytes PubMed
Rev rev Expression of the Risp family in human brain tissues and astrocytes can inhibit Rev activity by inducing accumulation of Rev in the cytoplasm PubMed
rev Co-localization of human 16.4.1 and HIV-1 Rev is demonstrated by epifluorescence microscopy of HeLa 16.4.1-GFP cells transfected with a Rev-CFP expression construct PubMed
rev Yeast-two hybrid screening and mammalian two-hybrid assays show the interaction of human 16.4.1 protein with HIV-1 Rev; amino acid residues 38-39 and 59-60 in Rev interact with a 95 amino acid region (residues 39-133) in a human protein fragment 16.4.1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18670, FLJ43157, KIAA0592

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retromer complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in endosomal transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein localization to endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to endosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Arp2/3 complex-mediated actin nucleation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of WASH complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of WASH complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of WASH complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in early endosome membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
WASH complex subunit 2A
Names
WASH complex subunit FAM21A
WASH complex subunit FAM21B
alternative protein FAM21B
family with sequence similarity 21 member A
family with sequence similarity 21, member B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001005751.3 → NP_001005751.1  WASH complex subunit 2A isoform 1

    See identical proteins and their annotated locations for NP_001005751.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC065500, BC075815, BC082258, DC336167
    Consensus CDS
    CCDS41527.1
    UniProtKB/Swiss-Prot
    A2A3S2, A2A3U6, Q5SNT6, Q641Q2, Q6DHY0
    UniProtKB/TrEMBL
    B7ZME8
    Related
    ENSP00000282633.5, ENST00000282633.10
    Conserved Domains (1) summary
    pfam15255
    Location:949 → 1076
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  2. NM_001291398.2 → NP_001278327.1  WASH complex subunit 2A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    BC065500, BC075815, BC082258, DC336167
    Consensus CDS
    CCDS76303.1
    UniProtKB/TrEMBL
    B7ZME8
    Related
    ENSP00000344037.6, ENST00000351071.11
    Conserved Domains (1) summary
    pfam15255
    Location:930 → 1055
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  3. NM_001330102.2 → NP_001317031.1  WASH complex subunit 2A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AL442003, AL450382, BC065500
    Consensus CDS
    CCDS81463.1
    UniProtKB/TrEMBL
    B7ZME8, E7ESD2
    Related
    ENSP00000314417.7, ENST00000314664.12
    Conserved Domains (1) summary
    pfam15255
    Location:889 → 1014
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    50067954..50133509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016227.2 → XP_016871716.1  WASH complex subunit 2A isoform X3

    UniProtKB/TrEMBL
    B7ZME8

  2. XM_011539786.3 → XP_011538088.1  WASH complex subunit 2A isoform X20

    UniProtKB/TrEMBL
    B7ZME8
    Conserved Domains (1) summary
    pfam15255
    Location:886 → 943
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  3. XM_006717831.4 → XP_006717894.2  WASH complex subunit 2A isoform X6

    UniProtKB/TrEMBL
    B7ZME8
    Conserved Domains (1) summary
    pfam15255
    Location:898 → 1025
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  4. XM_017016231.2 → XP_016871720.1  WASH complex subunit 2A isoform X9

    UniProtKB/TrEMBL
    B7ZME8

  5. XM_047425212.1 → XP_047281168.1  WASH complex subunit 2A isoform X15

  6. XM_047425214.1 → XP_047281170.1  WASH complex subunit 2A isoform X18

  7. XM_047425217.1 → XP_047281173.1  WASH complex subunit 2A isoform X22

  8. XM_005269807.4 → XP_005269864.2  WASH complex subunit 2A isoform X2

    UniProtKB/TrEMBL
    B7ZME8
    Conserved Domains (1) summary
    pfam15255
    Location:920 → 1047
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  9. XM_017016229.2 → XP_016871718.1  WASH complex subunit 2A isoform X5

    UniProtKB/TrEMBL
    B7ZME8

  10. XM_047425207.1 → XP_047281163.1  WASH complex subunit 2A isoform X8

  11. XM_047425211.1 → XP_047281167.1  WASH complex subunit 2A isoform X14

  12. XM_047425216.1 → XP_047281172.1  WASH complex subunit 2A isoform X21

  13. XM_047425209.1 → XP_047281165.1  WASH complex subunit 2A isoform X12

  14. XM_047425213.1 → XP_047281169.1  WASH complex subunit 2A isoform X17

  15. XM_005269806.4 → XP_005269863.2  WASH complex subunit 2A isoform X1

    UniProtKB/TrEMBL
    B7ZME8
    Conserved Domains (1) summary
    pfam15255
    Location:925 → 1052
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  16. XM_017016228.2 → XP_016871717.1  WASH complex subunit 2A isoform X4

    UniProtKB/TrEMBL
    B7ZME8

  17. XM_047425210.1 → XP_047281166.1  WASH complex subunit 2A isoform X13

  18. XM_047425208.1 → XP_047281164.1  WASH complex subunit 2A isoform X11

  19. XM_006717832.4 → XP_006717895.2  WASH complex subunit 2A isoform X16

    UniProtKB/TrEMBL
    A0A087WYF6, B7ZME8
    Related
    ENSP00000481763.1, ENST00000611324.4
    Conserved Domains (1) summary
    pfam15255
    Location:855 → 980
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  20. XM_047425206.1 → XP_047281162.1  WASH complex subunit 2A isoform X7

  21. XM_017016232.2 → XP_016871721.1  WASH complex subunit 2A isoform X10

    UniProtKB/TrEMBL
    B7ZME8

  22. XM_047425215.1 → XP_047281171.1  WASH complex subunit 2A isoform X19

  23. XM_047425219.1 → XP_047281175.1  WASH complex subunit 2A isoform X25

  24. XM_047425220.1 → XP_047281176.1  WASH complex subunit 2A isoform X28

  25. XM_047425218.1 → XP_047281174.1  WASH complex subunit 2A isoform X24

  26. XM_017016233.2 → XP_016871722.1  WASH complex subunit 2A isoform X23

    UniProtKB/TrEMBL
    F8W7U3
    Related
    ENSP00000382277.2, ENST00000399339.6

  27. XM_024447991.2 → XP_024303759.1  WASH complex subunit 2A isoform X26

    Conserved Domains (1) summary
    pfam15255
    Location:314 → 450
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

  28. XM_005269810.4 → XP_005269867.2  WASH complex subunit 2A isoform X27

    Conserved Domains (1) summary
    pfam15255
    Location:317 → 444
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    50917598..50983160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365854.1 → XP_054221829.1  WASH complex subunit 2A isoform X3

  2. XM_054365871.1 → XP_054221846.1  WASH complex subunit 2A isoform X20

  3. XM_054365857.1 → XP_054221832.1  WASH complex subunit 2A isoform X6

  4. XM_054365860.1 → XP_054221835.1  WASH complex subunit 2A isoform X9

  5. XM_054365866.1 → XP_054221841.1  WASH complex subunit 2A isoform X15

  6. XM_054365869.1 → XP_054221844.1  WASH complex subunit 2A isoform X18

  7. XM_054365873.1 → XP_054221848.1  WASH complex subunit 2A isoform X22

  8. XM_054365853.1 → XP_054221828.1  WASH complex subunit 2A isoform X2

  9. XM_054365856.1 → XP_054221831.1  WASH complex subunit 2A isoform X5

  10. XM_054365859.1 → XP_054221834.1  WASH complex subunit 2A isoform X8

  11. XM_054365865.1 → XP_054221840.1  WASH complex subunit 2A isoform X14

  12. XM_054365872.1 → XP_054221847.1  WASH complex subunit 2A isoform X21

  13. XM_054365863.1 → XP_054221838.1  WASH complex subunit 2A isoform X12

  14. XM_054365868.1 → XP_054221843.1  WASH complex subunit 2A isoform X17

  15. XM_054365852.1 → XP_054221827.1  WASH complex subunit 2A isoform X1

  16. XM_054365855.1 → XP_054221830.1  WASH complex subunit 2A isoform X4

  17. XM_054365864.1 → XP_054221839.1  WASH complex subunit 2A isoform X13

  18. XM_054365862.1 → XP_054221837.1  WASH complex subunit 2A isoform X11

  19. XM_054365867.1 → XP_054221842.1  WASH complex subunit 2A isoform X16

  20. XM_054365858.1 → XP_054221833.1  WASH complex subunit 2A isoform X7

  21. XM_054365861.1 → XP_054221836.1  WASH complex subunit 2A isoform X10

  22. XM_054365870.1 → XP_054221845.1  WASH complex subunit 2A isoform X19

  23. XM_054365876.1 → XP_054221851.1  WASH complex subunit 2A isoform X25

  24. XM_054365879.1 → XP_054221854.1  WASH complex subunit 2A isoform X28

  25. XM_054365875.1 → XP_054221850.1  WASH complex subunit 2A isoform X24

  26. XM_054365874.1 → XP_054221849.1  WASH complex subunit 2A isoform X23

  27. XM_054365877.1 → XP_054221852.1  WASH complex subunit 2A isoform X26

  28. XM_054365878.1 → XP_054221853.1  WASH complex subunit 2A isoform X27

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018232.1: Suppressed sequence

    Description
    NM_018232.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q641Q2.3 GenPept UniProtKB/Swiss-Prot:Q641Q2

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