NCAPH2 (non-SMC condensin II complex subunit H2)

Gene

• Entrez ID: 29781
• Gene name: Non-SMC condensin II complex subunit H2
• Gene symbol: NCAPH2
• Synonyms (NCBI Gene): CAPH2
• Chromosome: 22
• Chromosome location: 22q13.33
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016269	hsa-miR-193b-3p	Microarray	20304954
MIRT022333	hsa-miR-124-3p	Microarray	18668037
MIRT1175866	hsa-miR-105	CLIP-seq
MIRT1175867	hsa-miR-125a-3p	CLIP-seq
MIRT1175868	hsa-miR-1587	CLIP-seq
MIRT1175869	hsa-miR-205	CLIP-seq
MIRT1175870	hsa-miR-3670	CLIP-seq
MIRT1175871	hsa-miR-3934	CLIP-seq
MIRT1175872	hsa-miR-3942-3p	CLIP-seq
MIRT1175873	hsa-miR-4293	CLIP-seq
MIRT1175874	hsa-miR-4417	CLIP-seq
MIRT1175875	hsa-miR-4468	CLIP-seq
MIRT1175876	hsa-miR-4492	CLIP-seq
MIRT1175877	hsa-miR-4498	CLIP-seq
MIRT1175878	hsa-miR-4505	CLIP-seq
MIRT1175879	hsa-miR-4656	CLIP-seq
MIRT1175880	hsa-miR-4675	CLIP-seq
MIRT1175881	hsa-miR-4741	CLIP-seq
MIRT1175882	hsa-miR-4792	CLIP-seq
MIRT1175883	hsa-miR-646	CLIP-seq
MIRT1175884	hsa-miR-762	CLIP-seq
MIRT1175885	hsa-miR-764	CLIP-seq
MIRT1175886	hsa-miR-1295	CLIP-seq
MIRT1175887	hsa-miR-3166	CLIP-seq
MIRT1175888	hsa-miR-3194-5p	CLIP-seq
MIRT1175875	hsa-miR-4468	CLIP-seq
MIRT1175889	hsa-miR-4640-5p	CLIP-seq
MIRT1175890	hsa-miR-4726-5p	CLIP-seq
MIRT1175891	hsa-miR-665	CLIP-seq
MIRT1175886	hsa-miR-1295	CLIP-seq
MIRT1175891	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	ISO
GO:0000796	Component	Condensin complex	IBA
GO:0000796	Component	Condensin complex	IEA
GO:0000796	Component	Condensin complex	NAS	17268547
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	17268547, 25416956, 25910212, 26496610, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	IEA
GO:0007076	Process	Mitotic chromosome condensation	IEA
GO:0007076	Process	Mitotic chromosome condensation	ISS
GO:0007143	Process	Female meiotic nuclear division	IEA
GO:0010032	Process	Meiotic chromosome condensation	IBA
GO:0010032	Process	Meiotic chromosome condensation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030054	Component	Cell junction	IDA
GO:0030261	Process	Chromosome condensation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0051306	Process	Mitotic sister chromatid separation	IBA
GO:0051306	Process	Mitotic sister chromatid separation	IEA
GO:0051309	Process	Female meiosis chromosome separation	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	ISO
GO:1905820	Process	Positive regulation of chromosome separation	IEA
GO:1905820	Process	Positive regulation of chromosome separation	ISO
GO:1905821	Process	Positive regulation of chromosome condensation	ISS

Other IDs

• MIM: 611230
• HGNC: 25071
• e!Ensembl: ENSG00000025770

Protein

• UniProt ID: Q6IBW4
• Protein name: Condensin-2 complex subunit H2 (Chromosome-associated protein H2) (hCAP-H2) (Kleisin-beta) (Non-SMC condensin II complex subunit H2)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06278	CNDH2_N	11 → 123	Condensin II complex subunit CAP-H2 or CNDH2, N-terminal	Family
  PF16869	CNDH2_M	147 → 287	Condensin II complex subunit CAP-H2 or CNDH2, mid domain	Family
  PF16858	CNDH2_C	316 → 595	Condensin II complex subunit CAP-H2 or CNDH2, C-term	Family

• Sequence:

  MEDVEARFAHLLQPIRDLTKNWEVDVAAQLGEYLEELDQICISFDEGKTTMNFIEAALLI
  QGSACVYSKKVEYLYSLVYQALDFISGKRRAKQLSSVQEDRANGVASSGVPQEAENEFLS
  LDDFPDSRTNVDLKNDQTPSEVLIIPLLPMALVAPDEMEKNNNPLYSRQGEVLASRKDFR
  MNTCVPHPRGAFMLEPEGMSPMEPAGVSPMPGTQKDTGRTEEQPMEVSVCRSPVPALGFS
  QEPGPSPEGPMPLGGGEDEDAEEAVELPEASAPKAALEPKESRSPQQSAALPRRYMLRER
  EGAPEPASCVKETPDPWQSLDPFDSLESKPFKKGRPYSVPPCVEEALGQKRKRKGAAKLQ
  DFHQWYLAAYADHADSRRLRRKGPSFADMEVLYWTHVKEQLETLRKLQRREVAEQWLRPA
  EEDHLEDSLEDLGAADDFLEPEEYMEPEGADPREAADLDAVPMSLSYEELVRRNVELFIA
  TSQKFVQETELSQRIRDWEDTVQPLLQEQEQHVPFDIHTYGDQLVSRFPQLNEWCPFAEL
  VAGQPAFEVCRSMLASLQLANDYTVEITQQPGLEMAVDTMSLRLLTHQRAHKRFQTYAAP
  SMAQP

• Sequence length: 605

Pathways

Reactome:

Condensation of Prophase Chromosomes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	26742120	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	33078399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37166013	Associate	★☆☆☆☆ Found in Text Mining only
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	20159436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	28112199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	26742120	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASCAT_DG	28112199		★☆☆☆☆ Found in Text Mining only
Microcephaly Primary Autosomal Recessive 1	Microcephaly	Pubtator	23983231	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	28112199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA 6 (disorder)	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28211912	Associate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	28112199		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36097539	Associate	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	33078399	Associate	★☆☆☆☆ Found in Text Mining only