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

Gene ID: 253725, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 23.7), thyroid (RPKM 19.2) and 25 other tissues See more
Orthologs
NEW
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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 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

  4. XM_047424953.1XP_047280909.1  WASH complex subunit 2C isoform X18

  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

  7. XM_047424948.1XP_047280904.1  WASH complex subunit 2C isoform X13

  8. XM_047424956.1XP_047280912.1  WASH complex subunit 2C isoform X21

  9. XM_047424945.1XP_047280901.1  WASH complex subunit 2C isoform X10

  10. XM_047424950.1XP_047280906.1  WASH complex subunit 2C isoform X15

  11. XM_047424955.1XP_047280911.1  WASH complex subunit 2C isoform X20

  12. XM_047424941.1XP_047280897.1  WASH complex subunit 2C isoform X6

  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

  15. XM_047424954.1XP_047280910.1  WASH complex subunit 2C isoform X19

  16. XM_047424952.1XP_047280908.1  WASH complex subunit 2C isoform X17

  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

  19. XM_047424947.1XP_047280903.1  WASH complex subunit 2C isoform X12

  20. XM_047424946.1XP_047280902.1  WASH complex subunit 2C isoform X11

  21. XM_047424951.1XP_047280907.1  WASH complex subunit 2C isoform X16

  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

  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

  2. XM_054365384.1XP_054221359.1  WASH complex subunit 2C isoform X3

  3. XM_054365395.1XP_054221370.1  WASH complex subunit 2C isoform X14

  4. XM_054365399.1XP_054221374.1  WASH complex subunit 2C isoform X18

  5. XM_054365382.1XP_054221357.1  WASH complex subunit 2C isoform X1

  6. XM_054365388.1XP_054221363.1  WASH complex subunit 2C isoform X7

  7. XM_054365394.1XP_054221369.1  WASH complex subunit 2C isoform X13

  8. XM_054365402.1XP_054221377.1  WASH complex subunit 2C isoform X21

  9. XM_054365391.1XP_054221366.1  WASH complex subunit 2C isoform X10

  10. XM_054365396.1XP_054221371.1  WASH complex subunit 2C isoform X15

  11. XM_054365401.1XP_054221376.1  WASH complex subunit 2C isoform X20

  12. XM_054365387.1XP_054221362.1  WASH complex subunit 2C isoform X6

  13. XM_054365385.1XP_054221360.1  WASH complex subunit 2C isoform X4

  14. XM_054365389.1XP_054221364.1  WASH complex subunit 2C isoform X8

  15. XM_054365400.1XP_054221375.1  WASH complex subunit 2C isoform X19

  16. XM_054365398.1XP_054221373.1  WASH complex subunit 2C isoform X17

  17. XM_054365386.1XP_054221361.1  WASH complex subunit 2C isoform X5

  18. XM_054365390.1XP_054221365.1  WASH complex subunit 2C isoform X9

  19. XM_054365393.1XP_054221368.1  WASH complex subunit 2C isoform X12

  20. XM_054365392.1XP_054221367.1  WASH complex subunit 2C isoform X11

  21. XM_054365397.1XP_054221372.1  WASH complex subunit 2C isoform X16

  22. XM_054365404.1XP_054221379.1  WASH complex subunit 2C isoform X23

  23. XM_054365403.1XP_054221378.1  WASH complex subunit 2C isoform X22

  24. XM_054365405.1XP_054221380.1  WASH complex subunit 2C isoform X24

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