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Aliases for NCAPH Gene

Aliases for NCAPH Gene

  • Non-SMC Condensin I Complex Subunit H 2 3 4 5
  • Chromosome-Associated Protein H 3 4
  • BRRN1 3 4
  • Non-SMC Condensin I Complex, Subunit H 2
  • Barren Homolog 1 (Drosophila) 2
  • Barren (Drosophila) Homolog 2
  • Barren Homolog (Drosophila) 2
  • Condensin Complex Subunit 2 3
  • Barren Homolog Protein 1 4
  • Barren Homolog 1 3
  • XCAP-H Homolog 4
  • KIAA0074 4
  • HCAP-H 4
  • CAP-H 3
  • BRRN 4
  • CAPH 4

External Ids for NCAPH Gene

Previous HGNC Symbols for NCAPH Gene

  • BRRN1

Previous GeneCards Identifiers for NCAPH Gene

  • GC02P097001
  • GC02P090962

Summaries for NCAPH Gene

Entrez Gene Summary for NCAPH Gene

  • This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for NCAPH Gene

NCAPH (Non-SMC Condensin I Complex Subunit H) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Mitotic Prometaphase.

UniProtKB/Swiss-Prot for NCAPH Gene

  • Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

Gene Wiki entry for NCAPH Gene

Additional gene information for NCAPH Gene

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

Genomics for NCAPH Gene

Regulatory Elements for NCAPH Gene

Enhancers for NCAPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H096263 1.4 ENCODE dbSUPER 11.2 -69.9 -69881 3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 SNRNP200 KANSL3 ANKRD36 CIAO1 ITPRIPL1 ENSG00000230747 CNNM3 NCAPH ASTL DUSP2
GH02H096304 1.1 ENCODE 11.6 -30.1 -30103 2 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 CIAO1 NCAPH DUSP2 ASTL SNRNP200 ENSG00000230747
GH02H096233 0.7 ENCODE 10.7 -101.7 -101692 1 HDGF CTCF RAD21 EED ZNF143 SMC3 RUNX3 IKZF2 CHD2 SMARCA5 STARD7 STARD7-AS1 TMEM127 CIAO1 ADRA2B DUSP2 ASTL ITPRIPL1 NCAPH ENSG00000230747
GH02H096236 0.5 ENCODE 10.7 -98.7 -98714 0 TFAP4 NFIC SAP130 NFIA CIAO1 STARD7 STARD7-AS1 TMEM127 ADRA2B DUSP2 ASTL ITPRIPL1 NCAPH ENSG00000230747
GH02H096267 0.2 ENCODE 11.2 -67.9 -67924 0 SNRNP200 ENSG00000230747 ITPRIPL1 NCAPH ASTL DUSP2 CIAO1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NCAPH on UCSC Golden Path with GeneCards custom track

Promoters for NCAPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120262 -141 1601 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF207 SP3 ZHX2

Genomic Location for NCAPH Gene

Chromosome:
2
Start:
96,335,741 bp from pter
End:
96,377,095 bp from pter
Size:
41,355 bases
Orientation:
Plus strand

Genomic View for NCAPH Gene

Genes around NCAPH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NCAPH Gene

Proteins for NCAPH Gene

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

    Protein Symbol:
    Q15003-CND2_HUMAN
    Recommended name:
    Condensin complex subunit 2
    Protein Accession:
    Q15003
    Secondary Accessions:
    • B4E189
    • Q8TB87

    Protein attributes for NCAPH Gene

    Size:
    741 amino acids
    Molecular mass:
    82563 Da
    Quaternary structure:
    • Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG.
    SequenceCaution:
    • Sequence=BAA07556.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NCAPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCAPH Gene

Post-translational modifications for NCAPH Gene

  • Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity).
  • Ubiquitination at posLast=394394, posLast=495495, and posLast=648648
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NCAPH Gene

Domains & Families for NCAPH Gene

Gene Families for NCAPH Gene

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

Protein Domains for NCAPH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NCAPH Gene

Graphical View of Domain Structure for InterPro Entry

Q15003

UniProtKB/Swiss-Prot:

CND2_HUMAN :
  • Belongs to the CND2 (condensin subunit 2) family.
Family:
  • Belongs to the CND2 (condensin subunit 2) family.
genes like me logo Genes that share domains with NCAPH: view

Function for NCAPH Gene

Molecular function for NCAPH Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

Gene Ontology (GO) - Molecular Function for NCAPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA --
GO:0005515 protein binding IPI 17268547
GO:0044547 DNA topoisomerase binding IBA --
GO:0072587 DNA topoisomerase (ATP-hydrolyzing) activator activity IBA --
genes like me logo Genes that share ontologies with NCAPH: view

Phenotypes for NCAPH Gene

MGI mutant phenotypes for NCAPH:
inferred from 2 alleles
GenomeRNAi human phenotypes for NCAPH:
genes like me logo Genes that share phenotypes with NCAPH: view

Animal Models for NCAPH Gene

MGI Knock Outs for NCAPH:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NCAPH
  • Applied Biological Materials Clones for NCAPH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCAPH Gene

Localization for NCAPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCAPH Gene

Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensins association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.

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 NCAPH gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCAPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000796 condensin complex IDA 11136719
GO:0000799 nuclear condensin complex IBA --
GO:0005634 nucleus IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NCAPH: view

Pathways & Interactions for NCAPH Gene

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

Pathways by source for NCAPH Gene

1 BioSystems pathway for NCAPH Gene
1 GeneGo (Thomson Reuters) pathway for NCAPH Gene

Gene Ontology (GO) - Biological Process for NCAPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007076 mitotic chromosome condensation IDA,IEA 11136719
GO:0010032 meiotic chromosome condensation IEA --
GO:0030261 chromosome condensation IEA --
GO:0045132 meiotic chromosome segregation IEA --
genes like me logo Genes that share ontologies with NCAPH: view

No data available for SIGNOR curated interactions for NCAPH Gene

Drugs & Compounds for NCAPH Gene

No Compound Related Data Available

Transcripts for NCAPH Gene

Unigene Clusters for NCAPH Gene

Non-SMC condensin I complex, subunit H:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NCAPH
  • Applied Biological Materials Clones for NCAPH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^
SP1: -
SP2: - - - - - - - - - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - - - -
SP7:
SP8: - - -

ExUns: 16 ^ 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for NCAPH Gene

GeneLoc Exon Structure for
NCAPH
ECgene alternative splicing isoforms for
NCAPH

Expression for NCAPH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCAPH Gene

This gene is overexpressed in Testis (x9.8).

Protein differential expression in normal tissues from HIPED for NCAPH Gene

This gene is overexpressed in Bone (28.1), Lung (10.3), Platelet (7.5), and Testis (6.3).

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



NURSA nuclear receptor signaling pathways regulating expression of NCAPH Gene:

NCAPH

SOURCE GeneReport for Unigene cluster for NCAPH Gene:

Hs.308045

mRNA Expression by UniProt/SwissProt for NCAPH Gene:

Q15003-CND2_HUMAN
Tissue specificity: Widely expressed at low level. Expressed in proliferating cells.

Evidence on tissue expression from TISSUES for NCAPH Gene

  • Bone marrow(4.2)
  • Kidney(4)
  • Pancreas(3.1)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with NCAPH: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCAPH Gene

Orthologs for NCAPH Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NCAPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCAPH 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NCAPH 34 33
  • 86.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NCAPH 33 34
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Ncaph 16 34 33
  • 81.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NCAPH 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCAPH 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAPH 33 34
  • 65.96 (n)
lizard
(Anolis carolinensis)
Reptilia NCAPH 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncaph 33
  • 62.69 (n)
Str.10092 33
African clawed frog
(Xenopus laevis)
Amphibia brrn1-prov 33
zebrafish
(Danio rerio)
Actinopterygii ncaph 34 33
  • 58.51 (n)
OneToOne
wufc69h06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7620 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011508 33
  • 44.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta barr 33 34
  • 41.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRN1 34 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5013 34
  • 42 (a)
OneToOne
Species where no ortholog for NCAPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 NCAPH Gene

ENSEMBL:
Gene Tree for NCAPH (if available)
TreeFam:
Gene Tree for NCAPH (if available)

Paralogs for NCAPH Gene

No data available for Paralogs for NCAPH Gene

Variants for NCAPH Gene

Sequence variations from dbSNP and Humsavar for NCAPH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000047925 -- 96,363,062(+) TTGTC(A/G)CAGCC intron-variant
rs1000126442 -- 96,343,066(+) GCTTC(C/G)TTGGG intron-variant
rs1000146685 -- 96,355,636(+) TTTTA(C/T)GTTTT intron-variant
rs1000191121 -- 96,343,086(+) TATTT(C/T)GTGAA intron-variant
rs1000191914 -- 96,338,094(+) GCTAA(A/T)TTTTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591652 OTHER inversion 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv508155 CNV deletion 20534489
nsv819311 CNV loss 19587683
nsv834305 CNV gain 17160897

Variation tolerance for NCAPH Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCAPH Gene

Human Gene Mutation Database (HGMD)
NCAPH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCAPH

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

Disorders for NCAPH Gene

Relevant External Links for NCAPH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCAPH

No disorders were found for NCAPH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NCAPH Gene

Publications for NCAPH Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. Cell cycle-dependent expression and nucleolar localization of hCAP-H. (PMID: 11694586) Cabello OA … Belmont JW (Molecular biology of the cell 2001) 3 4 60
  3. Chromosome condensation by a human condensin complex in Xenopus egg extracts. (PMID: 11136719) Kimura K … Hirano T (The Journal of biological chemistry 2001) 3 4 60
  4. Localization of BRRN1, the human homologue of Drosophila barr, to 2q11.2. (PMID: 9417923) Cabello OA … Belmont JW (Genomics 1997) 2 3 60
  5. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4 60

Products for NCAPH Gene

  • Addgene plasmids for NCAPH

Sources for NCAPH Gene

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