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] See more...

Aliases for NCAPH2 Gene

Aliases for NCAPH2 Gene

  • Non-SMC Condensin II Complex Subunit H2 2 3 4 5
  • CAP-H2 Subunit Of The Condensin II Complex 2 3
  • Chromosome-Associated Protein H2 3 4
  • Condensin-2 Complex Subunit H2 3 4
  • Kleisin Beta 2 3
  • CAPH2 3 4
  • Non-SMC Condensin II Complex, Subunit H2 2
  • CTA-384D8.36 3
  • Kleisin-Beta 4
  • HCAP-H2 4

External Ids for NCAPH2 Gene

Previous GeneCards Identifiers for NCAPH2 Gene

  • GC22P049293
  • GC22P050946
  • GC22P033837

Summaries for NCAPH2 Gene

Entrez Gene Summary for NCAPH2 Gene

  • 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]

GeneCards Summary for NCAPH2 Gene

NCAPH2 (Non-SMC Condensin II Complex Subunit H2) is a Protein Coding gene. Diseases associated with NCAPH2 include Myopia 6 and Mitochondrial Dna Depletion Syndrome 1. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot Summary for NCAPH2 Gene

  • Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007).

Gene Wiki entry for NCAPH2 Gene

Additional gene information for NCAPH2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCAPH2 Gene

Genomics for NCAPH2 Gene

GeneHancer (GH) Regulatory Elements for NCAPH2 Gene

Promoters and enhancers for NCAPH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCAPH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCAPH2

Top Transcription factor binding sites by QIAGEN in the NCAPH2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Ik-1
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)
  • ZIC2

Genomic Locations for NCAPH2 Gene

Genomic Locations for NCAPH2 Gene
chr22:50,508,215-50,524,780
(GRCh38/hg38)
Size:
16,566 bases
Orientation:
Plus strand
chr22:50,946,645-50,963,209
(GRCh37/hg19)
Size:
16,565 bases
Orientation:
Plus strand

Genomic View for NCAPH2 Gene

Genes around NCAPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCAPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCAPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCAPH2 Gene

Proteins for NCAPH2 Gene

  • Protein details for NCAPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IBW4-CNDH2_HUMAN
    Recommended name:
    Condensin-2 complex subunit H2
    Protein Accession:
    Q6IBW4
    Secondary Accessions:
    • B7WPH1
    • O43788
    • Q13391
    • Q96C14
    • Q96GJ0
    • Q9BQ71
    • Q9BUT3
    • Q9BVD1

    Protein attributes for NCAPH2 Gene

    Size:
    605 amino acids
    Molecular mass:
    68227 Da
    Quaternary structure:
    • Component of the condensin-2 complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits, NCAPG2, NCAPH2 and NCAPD3 that probably regulate the complex.
    SequenceCaution:
    • Sequence=AAB03345.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH00473.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH01509.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH01833.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH01937.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH09441.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA16670.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=EAW73552.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NCAPH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCAPH2 Gene

Post-translational modifications for NCAPH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NCAPH2 Gene

Domains & Families for NCAPH2 Gene

Gene Families for NCAPH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NCAPH2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NCAPH2 Gene

GenScript: Design optimal peptide antigens:
  • Non-SMC condensin II complex subunit H2 (CNDH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IBW4

UniProtKB/Swiss-Prot:

CNDH2_HUMAN :
  • Belongs to the CND2 H2 (condensin-2 subunit 2) family.
Family:
  • Belongs to the CND2 H2 (condensin-2 subunit 2) family.
genes like me logo Genes that share domains with NCAPH2: view

Function for NCAPH2 Gene

Molecular function for NCAPH2 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007).

Phenotypes From GWAS Catalog for NCAPH2 Gene

Gene Ontology (GO) - Molecular Function for NCAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI 17268547
genes like me logo Genes that share ontologies with NCAPH2: view
genes like me logo Genes that share phenotypes with NCAPH2: view

Animal Models for NCAPH2 Gene

MGI Knock Outs for NCAPH2:

Animal Model Products

CRISPR Products

miRNA for NCAPH2 Gene

miRTarBase miRNAs that target NCAPH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAPH2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCAPH2 Gene

Localization for NCAPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCAPH2 Gene

Nucleus. Chromosome. Note=Distributed along the arms of chromosomes assembled in vivo and in vitro.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCAPH2 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytokinetic bridge (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 condensed chromosome IBA 21873635
GO:0000796 condensin complex IBA 21873635
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with NCAPH2: view

Pathways & Interactions for NCAPH2 Gene

genes like me logo Genes that share pathways with NCAPH2: view

Pathways by source for NCAPH2 Gene

1 GeneGo (Thomson Reuters) pathway for NCAPH2 Gene
  • Cell cycle_Chromosome condensation in prometaphase

Gene Ontology (GO) - Biological Process for NCAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007076 mitotic chromosome condensation IEA,ISS --
GO:0007143 female meiotic nuclear division IEA --
GO:0010032 meiotic chromosome condensation IBA,IEA 21873635
GO:0030261 chromosome condensation IEA --
GO:0033077 T cell differentiation in thymus IEA --
genes like me logo Genes that share ontologies with NCAPH2: view

No data available for SIGNOR curated interactions for NCAPH2 Gene

Drugs & Compounds for NCAPH2 Gene

No Compound Related Data Available

Transcripts for NCAPH2 Gene

mRNA/cDNA for NCAPH2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAPH2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCAPH2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: - -
SP7:

Relevant External Links for NCAPH2 Gene

GeneLoc Exon Structure for
NCAPH2

Expression for NCAPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCAPH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NCAPH2 Gene

This gene is overexpressed in Bone (49.4) and Heart (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCAPH2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCAPH2

SOURCE GeneReport for Unigene cluster for NCAPH2 Gene:

Hs.730607

Evidence on tissue expression from TISSUES for NCAPH2 Gene

  • Nervous system(4.8)
  • Lung(4.4)
  • Skin(4.4)
  • Muscle(4.2)
  • Eye(2.5)
genes like me logo Genes that share expression patterns with NCAPH2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCAPH2 Gene

Orthologs for NCAPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCAPH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCAPH2 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCAPH2 31 30
  • 85.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCAPH2 31 30
  • 85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ncaph2 17 31 30
  • 81.59 (n)
Gm7535 31
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ncaph2 30
  • 80.82 (n)
oppossum
(Monodelphis domestica)
Mammalia NCAPH2 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCAPH2 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAPH2 31 30
  • 66.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCAPH2 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncaph2 30
  • 59.65 (n)
Str.1022 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23862 30
zebrafish
(Danio rerio)
Actinopterygii ncaph2 31 30
  • 52.19 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for NCAPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NCAPH2 Gene

ENSEMBL:
Gene Tree for NCAPH2 (if available)
TreeFam:
Gene Tree for NCAPH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCAPH2: view image

Paralogs for NCAPH2 Gene

No data available for Paralogs for NCAPH2 Gene

Variants for NCAPH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCAPH2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
702033 Benign: not provided 50,523,836(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
706220 Benign: not provided 50,523,956(+) T/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
717986 Likely Benign: not provided 50,523,995(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
764239 Likely Benign: not provided 50,523,650(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
775456 Benign: not provided 50,518,686(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NCAPH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NCAPH2 Gene

Variant ID Type Subtype PubMed ID
esv2005211 CNV deletion 18987734
esv2343148 CNV deletion 18987734
esv2667238 CNV deletion 23128226
esv2758852 CNV loss 17122850
nsv1057656 CNV gain 25217958
nsv1160782 CNV deletion 26073780
nsv3669 CNV insertion 18451855
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv829340 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv834239 CNV loss 17160897
nsv955201 CNV deletion 24416366

Variation tolerance for NCAPH2 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.40; 85.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCAPH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCAPH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCAPH2 Gene

Disorders for NCAPH2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NCAPH2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopia 6
  • myp6
mitochondrial dna depletion syndrome 1
  • mtdps1
cardioencephalomyopathy
pleural empyema
  • abscess of pleural cavity
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NCAPH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NCAPH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCAPH2 Gene

Publications for NCAPH2 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  3. Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells. (PMID: 14532007) Ono T … Hirano T (Cell 2003) 3 4 54
  4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 2 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for NCAPH2 Gene

Sources for NCAPH2 Gene