CENPW centromere protein W [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:21488
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
Summary: Predicted to enable DNA binding activity and protein heterodimerization activity. Involved in chromosome segregation; kinetochore assembly; and mitotic cell cycle. Located in kinetochore and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 2.8), testis (RPKM 2.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (126340115..126483320)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (127528692..127671944)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (126661261..126804466)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Translocalization of enhanced PKM2 protein into the nucleus induced by cancer upregulated gene 2 confers cancer stem cell-like phenotypes.
Title: Translocalization of enhanced PKM2 protein into the nucleus induced by cancer upregulated gene 2 confers cancer stem cell-like phenotypes.
Knockdown of CENPW Inhibits Hepatocellular Carcinoma Progression by Inactivating E2F Signaling.
Title: Knockdown of CENPW Inhibits Hepatocellular Carcinoma Progression by Inactivating E2F Signaling.
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.
Title: Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.
The novel CUG2 oncogene promotes cellular transformation and stemness, mediated by nuclear NPM1 protein and TGF-beta signaling.
Title: Cancer upregulated gene 2 (CUG2), a novel oncogene, promotes stemness-like properties via the NPM1-TGF-β signaling axis.
CUG2 enhances expression of YAP1 protein. Akt and MAPK kinases are involved in the increase of YAP1 protein expression under overexpression of CUG2.
Title: Cancer upregulated gene (CUG)2 elevates YAP1 expression, leading to enhancement of epithelial-mesenchymal transition in human lung cancer cells.
Study provide new evidence to suggest that CUG2 overexpression contributes to tumor formation through NEK2/beta-catenin signaling by enhancing the phosphorylation of betacatenin at Ser33/Ser37 by activating NEK2, thus stabilizing betacatenin.
Title: CGK062, a small chemical molecule, inhibits cancer upregulated gene 2‑induced oncogenesis through NEK2 and β‑catenin.
CENP-W showed a higher affinity toward the beta-TrCP1 b isoform.
Title: Two major alternative splice variants of beta-TrCP1 interact with CENP-W with different binding preferences.
we suggest that STAT1HDAC4 signaling induces malignant tumor features such as EMT and sphere formation in CUG2overexpressing cancer cells.
Title: STAT1‑HDAC4 signaling induces epithelial‑mesenchymal transition and sphere formation of cancer cells overexpressing the oncogene, CUG2.
Report provides evidence that CUG2 induces the EMT in human lung cancer cells via enhancement of TGF-beta signaling and that that TGF-beta signaling is a potential target for CUG2-mediated oncogenesis.
Title: Cancer upregulated gene 2 induces epithelial-mesenchymal transition of human lung cancer cells via TGF-β signaling.
It has been proposed that CENP-W may function as a booster of beta-TrCP1 nuclear import to increase the oncogenicity of beta-TrCP1.
Title: Centromere protein W interacts with beta-transducin repeat-containing protein 1 and modulates its subcellular localization.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in CENP-A containing chromatin assembly	TAS Traceable Author Statement more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in chromosome segregation	TAS Traceable Author Statement more info	PubMed
involved_in kinetochore assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in kinetochore assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
part_of inner kinetochore	IPI Inferred from Physical Interaction more info	PubMed
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: centromere protein W

Names: cancer-up-regulated gene 2 protein; cancer-upregulated gene 2

NCBI Reference Sequences (RefSeq)

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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)

NM_001012507.4 → NP_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, BC039556, BM721156

Consensus CDS

CCDS34529.1

UniProtKB/Swiss-Prot

A6NIR0, A6NJC2, Q5EE01

Related

ENSP00000357311.4, ENST00000368328.5

Conserved Domains (1) summary

pfam15510
Location:1 → 88

CENP-W; CENP-W protein
NM_001286524.2 → NP_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:1 → 103

CENP-W; CENP-W protein
NM_001286525.2 → NP_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, BM721156, BM874602

Consensus CDS

CCDS75516.1

UniProtKB/TrEMBL

A0A0A0MRK5

Related

ENSP00000357309.1, ENST00000368326.5

Conserved Domains (1) summary

pfam15510
Location:1 → 42

CENP-W; CENP-W protein

RNA

NR_104462.2 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)

AL356534, AL832235

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

126340115..126483320

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010845.2 → XP_016866334.1 centromere protein W isoform X1

UniProtKB/TrEMBL

A0A0A0MRK5

Conserved Domains (1) summary

pfam15510
Location:1 → 42

CENP-W; CENP-W protein