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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
  • Kleisin Beta 2 3
  • CAPH2 3 4
  • Non-SMC Condensin II Complex, Subunit H2 2
  • Condensin-2 Complex Subunit H2 3
  • 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. Among its related pathways are Mitotic Prophase and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot 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. May play a role in lineage-specific role in T-cell development (By similarity).

Gene Wiki entry for NCAPH2 Gene

Additional gene information for NCAPH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCAPH2 Gene

Genomics for NCAPH2 Gene

GeneHancer (GH) Regulatory Elements for NCAPH2 Gene

Promoters and enhancers for NCAPH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I050505 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.4 -362 4.2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B E2F8 LMF2 NCAPH2 SYCE3 CHKB ALG12 ENSG00000273192 TRABD PLXNB2 TYMP MIOX
GH22I050626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 28.9 +119.8 119808 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 ZNF280A GLIS2 KLF7 ARSA BRD1 ZBED4 RABL2B ENSG00000272836 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095
GH22I050292 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.9 -207.1 -207108 17.7 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 PLXNB2 PIM3 BRD1 NCAPH2 RABL2B TYMP TUBGCP6 DENND6B LOC105373100 ODF3B
GH22I050670 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +164.8 164789 4.8 ZNF529 ZFP64 ZSCAN4 KLF17 FEZF1 ZNF2 ZNF335 GLIS2 EGR1 KLF7 SHANK3 BRD1 CPT1B ZBED4 ENSG00000272836 LOC105373095 RABL2B LMF2 NCAPH2 TUBGCP6
GH22I050339 Enhancer 0.9 ENCODE 31.3 -168.0 -167991 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF585B GLIS1 MYNN NBN ZNF300 BRD1 RABL2B ALG12 PLXNB2 ENSG00000272836 CHKB TUBGCP6 ZBED4 LMF2 ENSG00000273192
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NCAPH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NCAPH2 gene promoter:

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)

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; Positions=56, 429; 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

No Post-translational modifications

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:

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. May play a role in lineage-specific role in T-cell development (By similarity).

Phenotypes From GWAS Catalog for NCAPH2 Gene

Gene Ontology (GO) - Molecular Function for NCAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

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:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016020 membrane IDA,HDA 19946888
GO:0030054 cell junction IDA --
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

Gene Ontology (GO) - Biological Process for NCAPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030261 chromosome condensation 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

Unigene Clusters for NCAPH2 Gene

Non-SMC condensin II complex, subunit H2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
NCAPH2

Expression for NCAPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NCAPH2 Gene



NURSA nuclear receptor signaling pathways regulating expression of NCAPH2 Gene:

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

Primer Products

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 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia NCAPH2 33 34
  • 85.75 (n)
cow
(Bos Taurus)
Mammalia NCAPH2 33 34
  • 85 (n)
mouse
(Mus musculus)
Mammalia Ncaph2 33 16 34
  • 81.59 (n)
Gm7535 34
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ncaph2 33
  • 80.82 (n)
oppossum
(Monodelphis domestica)
Mammalia NCAPH2 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCAPH2 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAPH2 33 34
  • 66.38 (n)
lizard
(Anolis carolinensis)
Reptilia NCAPH2 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncaph2 33
  • 59.65 (n)
Str.1022 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23862 33
zebrafish
(Danio rerio)
Actinopterygii ncaph2 33 34
  • 52.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for NCAPH2 Gene

No data available for Paralogs for NCAPH2 Gene

Variants for NCAPH2 Gene

Sequence variations from dbSNP and Humsavar for NCAPH2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs112793292 benign, uncertain-significance, not specified, Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy 50,523,649(+) G/A/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs12148 benign, not specified, Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy 50,523,779(+) T/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs121908508 pathogenic, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 50,524,305(+) C/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs131811 benign, likely-benign, not specified, Mitochondrial DNA depletion syndrome 1 (MNGIE type), Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy 50,523,830(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs139545104 uncertain-significance, Cytochrome-c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy 50,524,250(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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

Additional Disease Information for NCAPH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NCAPH2 Gene.

No data available for MalaCards , 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 44 58
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for NCAPH2 Gene

Sources for NCAPH2 Gene

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