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

    Gene ID: 83540, updated on 3-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
    mouse all
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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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    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)

    Genotypes

    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 molecular_function ND
    No biological Data available
    more info
    		  
    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

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