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

Gene ID: 29781, updated on 10-Dec-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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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. Condensin and cohesin complexity: the expanding repertoire of functions. Wood AJ, et al. Nat Rev Genet, 2010 Jun. PMID 20442714, Free PMC Article
  3. A novel role for the condensin II complex in cellular senescence. Yokoyama Y, et al. Cell Cycle, 2015. PMID 26017022, Free PMC Article
  4. 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
  5. 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

See all (59) 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)

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

    UniProtKB/TrEMBL
    A0A0A6YYG7

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

    UniProtKB/TrEMBL
    A0A0A6YYG7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IBW4.1 GenPept UniProtKB/Swiss-Prot:Q6IBW4

Gene LinkOut

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