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CENPW centromere protein W [ Homo sapiens (human) ]

Gene ID: 387103, updated on 17-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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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