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    NCAPH2 non-SMC condensin II complex subunit H2 [ Homo sapiens (human) ]

    Gene ID: 29781, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NCAPH2provided by HGNC
    Official Full Name
    non-SMC condensin II complex subunit H2provided by HGNC
    Primary source
    HGNC:HGNC:25071
    See related
    Ensembl:ENSG00000025770 MIM:611230; AllianceGenome:HGNC:25071
    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
    CAPH2
    Summary
    This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NCAPH2 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50508224..50524780)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51018752..51035345)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50946653..50963209)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene myo-inositol oxygenase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13983 Neighboring gene lipase maturation factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50955745-50956678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50965237-50965808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19324 Neighboring gene synthesis of cytochrome C oxidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13989 Neighboring gene thymidine phosphorylase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50969361-50969866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13994 Neighboring gene ciliary microtubule associated protein 1B

    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. Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study. Hao SW, et al. J Alzheimers Dis, 2023. PMID 36806511
    2. DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy in Alzheimer's disease and amnesic mild cognitive impairment patients. Shinagawa S, et al. Neurosci Lett, 2016 Aug 26. PMID 27356276
    3. Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges. Weyburne E, et al. J Cell Physiol, 2021 May. PMID 33078399, Free PMC Article
    4. A novel role for the condensin II complex in cellular senescence. Yokoyama Y, et al. Cell Cycle, 2015. PMID 26017022, Free PMC Article
    5. Condensin and cohesin complexity: the expanding repertoire of functions. Wood AJ, et al. Nat Rev Genet, 2010 Jun. PMID 20442714, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study.
      Title: Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study.
    2. OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
      Title: OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
    3. Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.
      Title: Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.
    4. NCAPH2 promotes telomere stability, possibly through a direct interaction with the TRF1 shelterin component
      Title: Condensin II subunit NCAPH2 associates with shelterin protein TRF1 and is required for telomere stability.
    5. Data found that the abundance of CAP-H2 is increased in mitosis by a Plk1 kinase activity-dependent manner and that inhibition of Plk1 induces a degradation of CAP-H2 through Cdc20-mediated ubiquitin-proteasome machinery. These results suggest that the expression levels of CAP-H2 are regulated by Plk1 and Cdc20 for proper chromosomal organization during mitosis.
      Title: Plk1 phosphorylation of CAP-H2 triggers chromosome condensation by condensin II at the early phase of mitosis.
    6. Condensin II(CAP-D3 and CAP-H2) and GAIT subunits associate with L1 RNA in a co-dependent manner, independent of IFN-gamma. These findings suggest that cooperation between the Condensin II and GAIT complexes may facilitate a novel mechanism of L1 repression, thus contributing to the maintenance of genome stability in somatic cells
      Title: Condensin II and GAIT complexes cooperate to restrict LINE-1 retrotransposition in epithelial cells.
    7. Results suggest that DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy through apoptosis
      Title: DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy in Alzheimer's disease and amnesic mild cognitive impairment patients.
    8. DNA methylation in the NCAPH2/LMF2 promoter region is significantly decreased in Alzheimer disease.
      Title: Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer's Disease and Amnesic Mild Cognitive Impairment.
    9. CAPH2 protein accumulates as cells approach senescence, and knockdown of CAPH2 inhibits senescence.
      Title: A novel role for the condensin II complex in cellular senescence.
    10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2455, MGC4133, MGC5305, MGC8640, MGC15858, MGC18000

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female meiosis chromosome separation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic chromosome condensation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic chromosome condensation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic sister chromatid separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of chromosome condensation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of chromosome separation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in condensed nuclear chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of condensin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of condensin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    condensin-2 complex subunit H2
    Names
    CAP-H2 subunit of the condensin II complex
    CTA-384D8.36
    chromosome-associated protein H2
    kleisin beta

    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.

    Genomic

    1. NG_021419.1 RefSeqGene

      Range
      5009..21565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001185011.2 → NP_001171940.1  condensin-2 complex subunit H2 isoform 3

      See identical proteins and their annotated locations for NP_001171940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      BC009441, DB498781, U62317
      Consensus CDS
      CCDS54546.1
      UniProtKB/TrEMBL
      A0A0A6YYG7
      Related
      ENSP00000299821.11, ENST00000299821.15
      Conserved Domains (3) summary
      pfam06278
      Location:11 → 123
      CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
      pfam16858
      Location:316 → 588
      CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
      pfam16869
      Location:147 → 252
      CNDH2_M; PF16858

    2. NM_014551.5 → NP_055366.3  condensin-2 complex subunit H2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC001833, DB498781
      Consensus CDS
      CCDS43038.1
      UniProtKB/TrEMBL
      E5RJN3
      Related
      ENSP00000379050.3, ENST00000395698.7
      Conserved Domains (2) summary
      pfam06278
      Location:11 → 123
      CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
      pfam16869
      Location:147 → 252
      CNDH2_M; PF16858

    3. NM_152299.4 → NP_689512.2  condensin-2 complex subunit H2 isoform 2

      See identical proteins and their annotated locations for NP_689512.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      BC001937, BC009441, DB498781, U62317
      Consensus CDS
      CCDS14094.2
      UniProtKB/Swiss-Prot
      B7WPH1, O43788, Q13391, Q6IBW4, Q96C14, Q96GJ0, Q9BQ71, Q9BUT3, Q9BVD1
      UniProtKB/TrEMBL
      A0A0A6YYG7
      Related
      ENSP00000410088.2, ENST00000420993.7
      Conserved Domains (3) summary
      pfam06278
      Location:11 → 123
      CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
      pfam16858
      Location:316 → 587
      CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
      pfam16869
      Location:147 → 252
      CNDH2_M; PF16858

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50508224..50524780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261912.5 → XP_005261969.1  condensin-2 complex subunit H2 isoform X1

      UniProtKB/TrEMBL
      A0A0A6YYG7
      Conserved Domains (3) summary
      pfam06278
      Location:10 → 96
      CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
      pfam16858
      Location:289 → 561
      CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
      pfam16869
      Location:120 → 225
      CNDH2_M; PF16858

    2. XM_017028793.3 → XP_016884282.1  condensin-2 complex subunit H2 isoform X2

      UniProtKB/TrEMBL
      A0A0A6YYG7

    3. XM_011530685.3 → XP_011528987.1  condensin-2 complex subunit H2 isoform X3

      Conserved Domains (2) summary
      pfam16858
      Location:136 → 408
      CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
      pfam16869
      Location:1 → 72
      CNDH2_M; PF16858

    4. XM_047441352.1 → XP_047297308.1  condensin-2 complex subunit H2 isoform X4

    5. XM_047441353.1 → XP_047297309.1  condensin-2 complex subunit H2 isoform X5

    6. XM_047441354.1 → XP_047297310.1  condensin-2 complex subunit H2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51018752..51035345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325588.1 → XP_054181563.1  condensin-2 complex subunit H2 isoform X1

    2. XM_054325589.1 → XP_054181564.1  condensin-2 complex subunit H2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IBW4.1 GenPept UniProtKB/Swiss-Prot:Q6IBW4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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