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

Gene ID: 253725, updated on 17-Jun-2019

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
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
Expression
Ubiquitous expression in bone marrow (RPKM 23.7), thyroid (RPKM 19.2) and 25 other tissues See more
Orthologs

Genomic context

See WASHC2C in Genome Data Viewer
Location:
10q11.22
Exon count:
38
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (45727043..45792964)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (46222648..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 RNMT-activating mini protein pseudogene 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA 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

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0592

Gene Ontology Provided by GOA

Component Evidence Code Pubs
WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
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)

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/Swiss-Prot
    Q9Y4E1
    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/Swiss-Prot
    Q9Y4E1
    UniProtKB/TrEMBL
    B3KMC4
    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/TrEMBL
    A0A096LPC5
    Related
    ENSP00000485513.1, ENST00000623400.3
    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
  5. NM_001367394.1NP_001354323.1  WASH complex subunit 2C isoform 6

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC012044, AL645998, AL731535
  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
  14. NM_001367403.1NP_001354332.1  WASH complex subunit 2C isoform 14

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC012044, AL645998, AL731535
  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
  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
  19. NM_001367408.1NP_001354337.1  WASH complex subunit 2C isoform 16

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC012044, AL645998, AL731535
  21. NM_001367410.1NP_001354339.1  WASH complex subunit 2C isoform 18

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC012044, AL645998, AL731535
  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
  26. NM_001367415.1NP_001354344.1  WASH complex subunit 2C isoform 22

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC012044, AL645998, AL731535
  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/Swiss-Prot
    Q9Y4E1
    UniProtKB/TrEMBL
    A8K5W5, B3KMC4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016014.2XP_016871503.1  WASH complex subunit 2C isoform X3

  2. XM_011539569.2XP_011537871.1  WASH complex subunit 2C isoform X6

    Conserved Domains (1) summary
    pfam15255
    Location:8981025
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
  3. XM_011539568.2XP_011537870.1  WASH complex subunit 2C isoform X2

    Conserved Domains (1) summary
    pfam15255
    Location:9201047
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
  4. XM_017016017.2XP_016871506.1  WASH complex subunit 2C isoform X7

  5. XM_011539572.2XP_011537874.1  WASH complex subunit 2C isoform X16

  6. XM_011539570.3XP_011537872.1  WASH complex subunit 2C isoform X8

    Conserved Domains (1) summary
    pfam15255
    Location:8911018
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
  7. XM_017016025.1XP_016871514.1  WASH complex subunit 2C isoform X17

    Conserved Domains (1) summary
    pfam15255
    Location:314450
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region
  8. XM_011539573.3XP_011537875.1  WASH complex subunit 2C isoform X18

    Conserved Domains (1) summary
    pfam15255
    Location:317444
    CAP-ZIP_m; WASH complex subunit CAP-Z interacting, central region

RNA

  1. XR_002956972.1 RNA Sequence

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