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    CENPW centromere protein W [ Homo sapiens (human) ]

    Gene ID: 387103, updated on 15-Jun-2019

    Summary

    Official Symbol
    CENPWprovided by HGNC
    Official Full Name
    centromere protein Wprovided by HGNC
    Primary source
    HGNC:HGNC:21488
    See related
    Ensembl:ENSG00000203760 MIM:611264
    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
    CUG2; CENP-W; C6orf173
    Expression
    Broad expression in bone marrow (RPKM 2.8), testis (RPKM 2.0) and 20 other tissues See more
    Orthologs

    Genomic context

    See CENPW in Genome Data Viewer
    Location:
    6q22.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (126339696..126483320)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (126660660..126670548)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928096 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 5 Neighboring gene microRNA 588 Neighboring gene RNA, U6 small nuclear 200, pseudogene

    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
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    NHGRI GWA Catalog
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    NHGRI GWA Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    NHGRI GWA Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • DKFZp686L1553

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    CENP-A containing nucleosome assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome segregation TAS
    Traceable Author Statement
    more info
    PubMed 
    kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinetochore assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome, centromeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    centromere protein W
    Names
    cancer-up-regulated gene 2 protein
    cancer-upregulated gene 2

    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_001012507.3NP_001012525.1  centromere protein W isoform b

      See identical proteins and their annotated locations for NP_001012525.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC020559, AL832235, BC039556, BM721156
      Consensus CDS
      CCDS34529.1
      UniProtKB/Swiss-Prot
      Q5EE01
      Related
      ENSP00000357311.4, ENST00000368328.4
      Conserved Domains (1) summary
      pfam15510
      Location:188
      CENP-W; CENP-W protein
    2. NM_001286524.1NP_001273453.1  centromere protein W isoform a

      See identical proteins and their annotated locations for NP_001273453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC020559, AI207187, AL832235, BM721156
      Consensus CDS
      CCDS69196.1
      UniProtKB/Swiss-Prot
      Q5EE01
      Related
      ENSP00000357308.1, ENST00000368325.5
      Conserved Domains (1) summary
      pfam15510
      Location:1103
      CENP-W; CENP-W protein
    3. NM_001286525.1NP_001273454.1  centromere protein W isoform c

      See identical proteins and their annotated locations for NP_001273454.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites that result in a frameshifted 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC020559, AL832235, BM721156, BM874602
      Consensus CDS
      CCDS75516.1
      UniProtKB/Swiss-Prot
      Q5EE01
      UniProtKB/TrEMBL
      A0A0A0MRK5
      Related
      ENSP00000357309.1, ENST00000368326.5
      Conserved Domains (1) summary
      pfam15510
      Location:142
      CENP-W; CENP-W protein

    RNA

    1. NR_104462.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020559, AL356534, AL832235

    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_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      126339696..126483320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010845.1XP_016866334.1  centromere protein W isoform X1

      UniProtKB/Swiss-Prot
      Q5EE01
      UniProtKB/TrEMBL
      A0A0A0MRK5
      Conserved Domains (1) summary
      pfam15510
      Location:142
      CENP-W; CENP-W protein
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