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Ncaph2 non-SMC condensin II complex, subunit H2 [ Mus musculus (house mouse) ]

Gene ID: 52683, updated on 2-Apr-2024

Summary

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Official Symbol
Ncaph2provided by MGI
Official Full Name
non-SMC condensin II complex, subunit H2provided by MGI
Primary source
MGI:MGI:1289164
See related
Ensembl:ENSMUSG00000008690 AllianceGenome:MGI:1289164
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Expression
Ubiquitous expression in duodenum adult (RPKM 57.3), thymus adult (RPKM 48.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
15 E3; 15 44.84 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (89239920..89257030)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (89355719..89372850)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_39462 Neighboring gene myo-inositol oxygenase Neighboring gene STARR-positive B cell enhancer ABC_E7405 Neighboring gene STARR-positive B cell enhancer ABC_E3152 Neighboring gene lipase maturation factor 2 Neighboring gene STARR-seq mESC enhancer starr_39464 Neighboring gene SCO2 cytochrome c oxidase assembly protein Neighboring gene thymidine phosphorylase Neighboring gene ciliary microtubule associated protein 1B Neighboring gene kelch domain containing 7B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface. Houlard M, et al. Elife, 2021 Dec 1. PMID 34850681, Free PMC Article
  2. Splice variants of the condensin II gene Ncaph2 include alternative reading frame translations of exon 1. Theodoratos A, et al. FEBS J, 2012 Apr. PMID 22333158
  3. Defective T-cell function leading to reduced antibody production in a kleisin-beta mutant mouse. Gosling KM, et al. Immunology, 2008 Oct. PMID 18397266, Free PMC Article
  4. A mutation in a chromosome condensin II subunit, kleisin beta, specifically disrupts T cell development. Gosling KM, et al. Proc Natl Acad Sci U S A, 2007 Jul 24. PMID 17640884, Free PMC Article
  5. Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability. Woodward J, et al. Genes Dev, 2016 Oct 1. PMID 27737961, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. mice inheriting missense mutations in a condensin II subunit (Caph2(nes)) develop T-cell lymphoma
    Title: Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability.
  2. Condensins I and II have overlapping and non-overlapping functions in Neural stem cells.
    Title: Overlapping and non-overlapping functions of condensins I and II in neural stem cell divisions.
  3. condensin II (beta-kleisin) has an essential role during meiosis I in mouse oocytes and its function overlaps with that of condensin I (gamma-kleisin), which is otherwise redundant
    Title: Condensin confers the longitudinal rigidity of chromosomes.
  4. We confirm that Ncaph2 can generate three different N-termini, all encoded by exon 1, one of which is translated from an alternative reading frame.
    Title: Splice variants of the condensin II gene Ncaph2 include alternative reading frame translations of exon 1.
  5. define a unique lineage-specific requirement for kleisin beta in mammalian T cell differentiation
    Title: A mutation in a chromosome condensin II subunit, kleisin beta, specifically disrupts T cell development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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

  • MGC6766

Gene Ontology Provided by MGI

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

General protein information

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Preferred Names
condensin-2 complex subunit H2
Names
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.

mRNA and Protein(s)

  1. NM_001115132.3 → NP_001108604.1  condensin-2 complex subunit H2 isoform a

    See identical proteins and their annotated locations for NP_001108604.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AC113976
    Consensus CDS
    CCDS49700.1
    UniProtKB/Swiss-Prot
    Q3TNI4, Q8BSP2, Q8C2N3, Q8C3K9, Q8C4X8, Q8CAZ3, Q99L21, Q9CT99
    Related
    ENSMUSP00000074139.6, ENSMUST00000074552.12
    Conserved Domains (3) summary
    pfam06278
    Location:11 → 123
    CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
    pfam16858
    Location:308 → 589
    CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
    pfam16869
    Location:147 → 247
    CNDH2_M; PF16858

  2. NM_001271600.2 → NP_001258529.1  condensin-2 complex subunit H2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC113976
    Consensus CDS
    CCDS70660.1
    UniProtKB/TrEMBL
    E9PY48
    Related
    ENSMUSP00000036900.6, ENSMUST00000036987.12
    Conserved Domains (3) summary
    pfam06278
    Location:5 → 92
    CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
    pfam16858
    Location:277 → 558
    CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
    pfam16869
    Location:116 → 216
    CNDH2_M; PF16858

  3. NM_001271601.2 → NP_001258530.1  condensin-2 complex subunit H2 isoform c

    See identical proteins and their annotated locations for NP_001258530.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AC113976
    Consensus CDS
    CCDS70661.1
    UniProtKB/Swiss-Prot
    Q8BSP2
    Related
    ENSMUSP00000086095.7, ENSMUST00000088717.7
    Conserved Domains (3) summary
    pfam06278
    Location:11 → 123
    CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal
    pfam16858
    Location:308 → 590
    CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term
    pfam16869
    Location:147 → 247
    CNDH2_M; PF16858

  4. NM_001411917.1 → NP_001398846.1  condensin-2 complex subunit H2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC113976

RNA

  1. NR_073376.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC113976
    Related
    ENSMUST00000145259.8

  2. NR_177980.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113976

  3. NR_177981.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113976

  4. NR_177982.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113976

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    89239920..89257030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001781551.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BSP2.1 GenPept UniProtKB/Swiss-Prot:Q8BSP2

Gene LinkOut

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