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NUF2 NUF2 component of NDC80 kinetochore complex [ Homo sapiens (human) ]

Gene ID: 83540, updated on 14-Nov-2024

Summary

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Official Symbol
NUF2provided by HGNC
Official Full Name
NUF2 component of NDC80 kinetochore complexprovided by HGNC
Primary source
HGNC:HGNC:14621
See related
Ensembl:ENSG00000143228 MIM:611772; AllianceGenome:HGNC:14621
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDCA1; CT106; NUF2R
Summary
This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 23.0), bone marrow (RPKM 9.4) and 11 other tissues See more
Orthologs
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Genomic context

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See NUF2 in Genome Data Viewer
Location:
1q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (163321954..163355759)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (162666885..162701025)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (163291744..163325549)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 5 Neighboring gene uncharacterized LOC127814295 Neighboring gene TRNT1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2014 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:163369660-163370204 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:163384530-163384653 Neighboring gene eukaryotic translation initiation factor 3 subunit J pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:163397163-163397682 Neighboring gene RNA, 5S ribosomal pseudogene 62

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Maintenance of magnesium homeostasis by NUF2 promotes protein synthesis and anaplastic thyroid cancer progression. Bao L, et al. Cell Death Dis, 2024 Sep 6. PMID 39242581, Free PMC Article
  2. SiRNA-mediated knockdown against NUF2 suppresses tumor growth and induces cell apoptosis in human glioma cells. Huang SK, et al. Cell Mol Biol (Noisy-le-grand), 2014 Nov 25. PMID 25481014
  3. Silencing of NUF2 inhibits tumor growth and induces apoptosis in human hepatocellular carcinomas. Liu Q, et al. Asian Pac J Cancer Prev, 2014. PMID 25374179
  4. Silencing of NUF2 inhibits proliferation of human osteosarcoma Saos-2 cells. Fu HL, et al. Eur Rev Med Pharmacol Sci, 2016. PMID 27049259
  5. NUF2 as an anticancer therapeutic target and prognostic factor in breast cancer. Lv S, et al. Int J Oncol, 2020 Dec. PMID 33173994

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Maintenance of magnesium homeostasis by NUF2 promotes protein synthesis and anaplastic thyroid cancer progression.
    Title: Maintenance of magnesium homeostasis by NUF2 promotes protein synthesis and anaplastic thyroid cancer progression.
  2. FOXM1 promotes neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor progression in a NUF2-dependent manner.
    Title: FOXM1 promotes neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor progression in a NUF2-dependent manner.
  3. NUF2 is correlated with a poor prognosis and immune infiltration in clear cell renal cell carcinoma.
    Title: NUF2 is correlated with a poor prognosis and immune infiltration in clear cell renal cell carcinoma.
  4. NUF2 Drives Cholangiocarcinoma Progression and Migration via Inhibiting Autophagic Degradation of TFR1.
    Title: NUF2 Drives Cholangiocarcinoma Progression and Migration via Inhibiting Autophagic Degradation of TFR1.
  5. NUF2 Promotes Breast Cancer Development as a New Tumor Stem Cell Indicator.
    Title: NUF2 Promotes Breast Cancer Development as a New Tumor Stem Cell Indicator.
  6. NUF2 promotes tumorigenesis by interacting with HNRNPA2B1 via PI3K/AKT/mTOR pathway in ovarian cancer.
    Title: NUF2 promotes tumorigenesis by interacting with HNRNPA2B1 via PI3K/AKT/mTOR pathway in ovarian cancer.
  7. NUF2 Drives Clear Cell Renal Cell Carcinoma by Activating HMGA2 Transcription through KDM2A-mediated H3K36me2 Demethylation.
    Title: NUF2 Drives Clear Cell Renal Cell Carcinoma by Activating HMGA2 Transcription through KDM2A-mediated H3K36me2 Demethylation.
  8. ANP32E contributes to gastric cancer progression via NUF2 upregulation.
    Title: ANP32E contributes to gastric cancer progression via NUF2 upregulation.
  9. NUF2 Is a Potential Immunological and Prognostic Marker for Non-Small-Cell Lung Cancer.
    Title: NUF2 Is a Potential Immunological and Prognostic Marker for Non-Small-Cell Lung Cancer.
  10. Poly-SUMO-2/3 chain modification of Nuf2 facilitates CENP-E kinetochore localization and chromosome congression during mitosis.
    Title: Poly-SUMO-2/3 chain modification of Nuf2 facilitates CENP-E kinetochore localization and chromosome congression during mitosis.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
EBI GWAS Catalog

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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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in attachment of mitotic spindle microtubules to kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in attachment of spindle microtubules to kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in chromosome segregation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in kinetochore organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic spindle assembly checkpoint signaling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Ndc80 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Ndc80 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Ndc80 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in kinetochore NAS
Non-traceable Author Statement
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of outer kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
kinetochore protein Nuf2
Names
NDC80 kinetochore complex component NUF2
NUF2, NDC80 kinetochore complex component, homolog
cancer/testis antigen 106
cell division cycle associated 1
cell division cycle-associated protein 1
hNuf2
hNuf2R
hsNuf2

NCBI Reference Sequences (RefSeq)

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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_031423.4 → NP_113611.2  kinetochore protein Nuf2

    See identical proteins and their annotated locations for NP_113611.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL592435, BC008489
    Consensus CDS
    CCDS1245.1
    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4
    UniProtKB/TrEMBL
    E9PQC4
    Related
    ENSP00000356875.3, ENST00000367900.7
    Conserved Domains (2) summary
    TIGR02168
    Location:144 → 370
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03800
    Location:3 → 146
    Nuf2; Nuf2 family

  2. NM_145697.3 → NP_663735.2  kinetochore protein Nuf2

    See identical proteins and their annotated locations for NP_663735.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK093348, AL592435
    Consensus CDS
    CCDS1245.1
    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4
    UniProtKB/TrEMBL
    E9PQC4
    Related
    ENSP00000271452.3, ENST00000271452.8
    Conserved Domains (2) summary
    TIGR02168
    Location:144 → 370
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03800
    Location:3 → 146
    Nuf2; Nuf2 family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    163321954..163355759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450112.2 → XP_024305880.1  kinetochore protein Nuf2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4
    UniProtKB/TrEMBL
    E9PQC4
    Conserved Domains (2) summary
    TIGR02168
    Location:144 → 370
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03800
    Location:3 → 146
    Nuf2; Nuf2 family

  2. XM_024450113.2 → XP_024305881.1  kinetochore protein Nuf2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4
    UniProtKB/TrEMBL
    E9PQC4
    Conserved Domains (2) summary
    TIGR02168
    Location:144 → 370
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03800
    Location:3 → 146
    Nuf2; Nuf2 family

  3. XM_011510036.2 → XP_011508338.1  kinetochore protein Nuf2 isoform X2

    UniProtKB/TrEMBL
    E9PQC4
    Conserved Domains (2) summary
    TIGR02169
    Location:119 → 411
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam03800
    Location:1 → 100
    Nuf2; Nuf2 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    162666885..162701025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338978.1 → XP_054194953.1  kinetochore protein Nuf2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4

  2. XM_054338979.1 → XP_054194954.1  kinetochore protein Nuf2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU69, Q96HJ4, Q96Q78, Q9BZD4

  3. XM_054338980.1 → XP_054194955.1  kinetochore protein Nuf2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZD4.2 GenPept UniProtKB/Swiss-Prot:Q9BZD4

Gene LinkOut

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