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    WASHC2C WASH complex subunit 2C [ Homo sapiens (human) ]

    Gene ID: 253725, updated on 9-Dec-2024

    Summary

    Official Symbol
    WASHC2Cprovided by HGNC
    Official Full Name
    WASH complex subunit 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:23414
    See related
    Ensembl:ENSG00000172661 MIM:613631; AllianceGenome:HGNC:23414
    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
    VPEF; FAM21A; FAM21C
    Summary
    Enables phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and retromer complex binding activity. Involved in several processes, including endosomal transport; negative regulation of barbed-end actin filament capping; and protein localization to endosome. Located in cytosol; early endosome; and nucleolus. Part of WASH complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 23.7), thyroid (RPKM 19.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WASHC2C in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (45727043..45792964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46608030..46674012)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (46222491..46288412)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 10, pseudogene Neighboring gene family with sequence similarity 21 member F, pseudogene Neighboring gene RNA guanine-N7 methyltransferase activating subunit-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:46221940-46222685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:46222686-46223430 Neighboring gene Sharpr-MPRA regulatory region 4830 Neighboring gene PARGP1-AGAP4 readthrough Neighboring gene family with sequence similarity 25 member E Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    HIV-1 interactions

    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 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
    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

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0592

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of WASH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    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

    Preferred Names
    WASH complex subunit 2C
    Names
    WASH complex subunit FAM21C
    family with sequence similarity 21 member C
    vaccinia virus penetration factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001169106.2NP_001162577.1  WASH complex subunit 2C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL046783, BC150611, BM126842, BQ229875, CN314880, DB219301, DC377099
      Consensus CDS
      CCDS53528.1
      UniProtKB/TrEMBL
      A8K5W5
      Related
      ENSP00000439811.1, ENST00000540872.6
      Conserved Domains (1) summary
      pfam15255
      Location:8891014
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    2. NM_001169107.2NP_001162578.1  WASH complex subunit 2C isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK001545, AK303048, AL046783, BC150611
      Consensus CDS
      CCDS53529.1
      UniProtKB/TrEMBL
      A8K5W5
      Related
      ENSP00000442128.1, ENST00000537517.6
      Conserved Domains (1) summary
      pfam15255
      Location:855980
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    3. NM_001330074.2NP_001317003.1  WASH complex subunit 2C isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC012044, AI023041, AL645998, AL731535
      Consensus CDS
      CCDS81453.1
      UniProtKB/Swiss-Prot
      A0A096LPC5, B4DZQ6, B9EK53, F5H0J6, F5H871, Q5SQU4, Q5SQU5, Q7L521, Q9UG79, Q9Y4E1
      UniProtKB/TrEMBL
      A8K5W5
      Related
      ENSP00000485513.1, ENST00000623400.4
      Conserved Domains (1) summary
      pfam15255
      Location:9491076
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    4. NM_001367393.1NP_001354322.1  WASH complex subunit 2C isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    5. NM_001367394.1NP_001354323.1  WASH complex subunit 2C isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    6. NM_001367395.1NP_001354324.1  WASH complex subunit 2C isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    7. NM_001367396.1NP_001354325.1  WASH complex subunit 2C isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    8. NM_001367397.1NP_001354326.1  WASH complex subunit 2C isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    9. NM_001367398.1NP_001354327.1  WASH complex subunit 2C isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      F8W7U3
    10. NM_001367399.1NP_001354328.1  WASH complex subunit 2C isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    11. NM_001367400.1NP_001354329.1  WASH complex subunit 2C isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    12. NM_001367401.1NP_001354330.1  WASH complex subunit 2C isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    13. NM_001367402.1NP_001354331.1  WASH complex subunit 2C isoform 24

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24), as well as variants 25, 26, and 27, encodes isoform 24.
      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    14. NM_001367403.1NP_001354332.1  WASH complex subunit 2C isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    15. NM_001367404.1NP_001354333.1  WASH complex subunit 2C isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    16. NM_001367405.1NP_001354334.1  WASH complex subunit 2C isoform 24

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25), as well as variants 24, 26, and 27, encodes isoform 24.
      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    17. NM_001367406.1NP_001354335.1  WASH complex subunit 2C isoform 25

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
    18. NM_001367407.1NP_001354336.1  WASH complex subunit 2C isoform 24

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26), as well as variants 24, 25, and 27, encodes isoform 24.
      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    19. NM_001367408.1NP_001354337.1  WASH complex subunit 2C isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    20. NM_001367409.1NP_001354338.1  WASH complex subunit 2C isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
      Related
      ENSP00000352922.6, ENST00000359860.7
    21. NM_001367410.1NP_001354339.1  WASH complex subunit 2C isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    22. NM_001367411.1NP_001354340.1  WASH complex subunit 2C isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      F8W7U3
    23. NM_001367412.1NP_001354341.1  WASH complex subunit 2C isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      F8W7U3
    24. NM_001367413.1NP_001354342.1  WASH complex subunit 2C isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    25. NM_001367414.1NP_001354343.1  WASH complex subunit 2C isoform 24

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 24, 25, and 26, encodes isoform 24.
      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      J3KP36
    26. NM_001367415.1NP_001354344.1  WASH complex subunit 2C isoform 22

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    27. NM_001367416.1NP_001354345.1  WASH complex subunit 2C isoform 23

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535
      UniProtKB/TrEMBL
      A8K5W5
    28. NM_015262.3NP_056077.2  WASH complex subunit 2C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK001545, AK291430, AL046783, BC150611
      Consensus CDS
      CCDS44374.2
      UniProtKB/TrEMBL
      A8K5W5
      Related
      ENSP00000363482.2, ENST00000374362.6
      Conserved Domains (2) summary
      pfam15255
      Location:9251059
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
      cl25574
      Location:589816
      TOP2c; TopoisomeraseII

    RNA

    1. NR_159966.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012044, AL645998, AL731535

    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
      45727043..45792964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016014.3XP_016871503.1  WASH complex subunit 2C isoform X2

      UniProtKB/TrEMBL
      A8K5W5
      Conserved Domains (1) summary
      PTZ00108
      Location:589816
      PTZ00108; DNA topoisomerase 2-like protein; Provisional
    2. XM_011539569.3XP_011537871.1  WASH complex subunit 2C isoform X3

      UniProtKB/TrEMBL
      A8K5W5
      Conserved Domains (1) summary
      pfam15255
      Location:8981025
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    3. XM_047424949.1XP_047280905.1  WASH complex subunit 2C isoform X14

      UniProtKB/TrEMBL
      A8K5W5
    4. XM_047424953.1XP_047280909.1  WASH complex subunit 2C isoform X18

      UniProtKB/TrEMBL
      A8K5W5
    5. XM_011539568.3XP_011537870.1  WASH complex subunit 2C isoform X1

      UniProtKB/TrEMBL
      A8K5W5
      Conserved Domains (1) summary
      pfam15255
      Location:9201047
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    6. XM_047424942.1XP_047280898.1  WASH complex subunit 2C isoform X7

      UniProtKB/TrEMBL
      A8K5W5
    7. XM_047424948.1XP_047280904.1  WASH complex subunit 2C isoform X13

      UniProtKB/TrEMBL
      A8K5W5
    8. XM_047424956.1XP_047280912.1  WASH complex subunit 2C isoform X21

      UniProtKB/TrEMBL
      A8K5W5
    9. XM_047424945.1XP_047280901.1  WASH complex subunit 2C isoform X10

      UniProtKB/TrEMBL
      A8K5W5
    10. XM_047424950.1XP_047280906.1  WASH complex subunit 2C isoform X15

      UniProtKB/TrEMBL
      A8K5W5
    11. XM_047424955.1XP_047280911.1  WASH complex subunit 2C isoform X20

      UniProtKB/TrEMBL
      A8K5W5
    12. XM_047424941.1XP_047280897.1  WASH complex subunit 2C isoform X6

      UniProtKB/TrEMBL
      A8K5W5
    13. XM_017016017.3XP_016871506.1  WASH complex subunit 2C isoform X4

      UniProtKB/TrEMBL
      A8K5W5
    14. XM_047424943.1XP_047280899.1  WASH complex subunit 2C isoform X8

      UniProtKB/TrEMBL
      A8K5W5
    15. XM_047424954.1XP_047280910.1  WASH complex subunit 2C isoform X19

      UniProtKB/TrEMBL
      A8K5W5
    16. XM_047424952.1XP_047280908.1  WASH complex subunit 2C isoform X17

      UniProtKB/TrEMBL
      A8K5W5
    17. XM_011539570.4XP_011537872.1  WASH complex subunit 2C isoform X5

      UniProtKB/TrEMBL
      A8K5W5
      Conserved Domains (1) summary
      pfam15255
      Location:8911018
      CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
    18. XM_047424944.1XP_047280900.1  WASH complex subunit 2C isoform X9

      UniProtKB/TrEMBL
      A8K5W5
    19. XM_047424947.1XP_047280903.1  WASH complex subunit 2C isoform X12

      UniProtKB/TrEMBL
      A8K5W5
    20. XM_047424946.1XP_047280902.1  WASH complex subunit 2C isoform X11

      UniProtKB/TrEMBL
      A8K5W5
    21. XM_047424951.1XP_047280907.1  WASH complex subunit 2C isoform X16

      UniProtKB/TrEMBL
      A8K5W5
    22. XM_011539572.3XP_011537874.1  WASH complex subunit 2C isoform X23

      UniProtKB/TrEMBL
      B4DHJ2
    23. XM_047424957.1XP_047280913.1  WASH complex subunit 2C isoform X22

      UniProtKB/TrEMBL
      F8W7U3
    24. XM_047424959.1XP_047280915.1  WASH complex subunit 2C isoform X24

    25. XM_011539573.4XP_011537875.1  WASH complex subunit 2C isoform X25

      Conserved Domains (1) summary
      pfam15255
      Location:317444
      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
      46608030..46674012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365383.1XP_054221358.1  WASH complex subunit 2C isoform X2

      UniProtKB/TrEMBL
      A8K5W5
    2. XM_054365384.1XP_054221359.1  WASH complex subunit 2C isoform X3

      UniProtKB/TrEMBL
      A8K5W5
    3. XM_054365395.1XP_054221370.1  WASH complex subunit 2C isoform X14

      UniProtKB/TrEMBL
      A8K5W5
    4. XM_054365399.1XP_054221374.1  WASH complex subunit 2C isoform X18

      UniProtKB/TrEMBL
      A8K5W5
    5. XM_054365382.1XP_054221357.1  WASH complex subunit 2C isoform X1

      UniProtKB/TrEMBL
      A8K5W5
    6. XM_054365388.1XP_054221363.1  WASH complex subunit 2C isoform X7

      UniProtKB/TrEMBL
      A8K5W5
    7. XM_054365394.1XP_054221369.1  WASH complex subunit 2C isoform X13

      UniProtKB/TrEMBL
      A8K5W5
    8. XM_054365402.1XP_054221377.1  WASH complex subunit 2C isoform X21

      UniProtKB/TrEMBL
      A8K5W5
    9. XM_054365391.1XP_054221366.1  WASH complex subunit 2C isoform X10

      UniProtKB/TrEMBL
      A8K5W5
    10. XM_054365396.1XP_054221371.1  WASH complex subunit 2C isoform X15

      UniProtKB/TrEMBL
      A8K5W5
    11. XM_054365401.1XP_054221376.1  WASH complex subunit 2C isoform X20

      UniProtKB/TrEMBL
      A8K5W5
    12. XM_054365387.1XP_054221362.1  WASH complex subunit 2C isoform X6

      UniProtKB/TrEMBL
      A8K5W5
    13. XM_054365385.1XP_054221360.1  WASH complex subunit 2C isoform X4

      UniProtKB/TrEMBL
      A8K5W5
    14. XM_054365389.1XP_054221364.1  WASH complex subunit 2C isoform X8

      UniProtKB/TrEMBL
      A8K5W5
    15. XM_054365400.1XP_054221375.1  WASH complex subunit 2C isoform X19

      UniProtKB/TrEMBL
      A8K5W5
    16. XM_054365398.1XP_054221373.1  WASH complex subunit 2C isoform X17

      UniProtKB/TrEMBL
      A8K5W5
    17. XM_054365386.1XP_054221361.1  WASH complex subunit 2C isoform X5

      UniProtKB/TrEMBL
      A8K5W5
    18. XM_054365390.1XP_054221365.1  WASH complex subunit 2C isoform X9

      UniProtKB/TrEMBL
      A8K5W5
    19. XM_054365393.1XP_054221368.1  WASH complex subunit 2C isoform X12

      UniProtKB/TrEMBL
      A8K5W5
    20. XM_054365392.1XP_054221367.1  WASH complex subunit 2C isoform X11

      UniProtKB/TrEMBL
      A8K5W5
    21. XM_054365397.1XP_054221372.1  WASH complex subunit 2C isoform X16

      UniProtKB/TrEMBL
      A8K5W5
    22. XM_054365404.1XP_054221379.1  WASH complex subunit 2C isoform X23

      UniProtKB/TrEMBL
      B4DHJ2
    23. XM_054365403.1XP_054221378.1  WASH complex subunit 2C isoform X22

      UniProtKB/TrEMBL
      F8W7U3
    24. XM_054365405.1XP_054221380.1  WASH complex subunit 2C isoform X24

    25. XM_054365406.1XP_054221381.1  WASH complex subunit 2C isoform X25