NCAPH2 non-SMC condensin II complex subunit H2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NCAPH2provided by HGNC
Official Full Name: non-SMC condensin II complex subunit H2provided by HGNC
Primary source: HGNC:HGNC:25071
See related: Ensembl:ENSG00000025770 MIM:611230; AllianceGenome:HGNC:25071
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAPH2
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]
Expression: Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50508224..50524780)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51018752..51035345)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50946653..50963209)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study.
Title: Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study.
OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
Title: OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.
Title: Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.
NCAPH2 promotes telomere stability, possibly through a direct interaction with the TRF1 shelterin component
Title: Condensin II subunit NCAPH2 associates with shelterin protein TRF1 and is required for telomere stability.
Data found that the abundance of CAP-H2 is increased in mitosis by a Plk1 kinase activity-dependent manner and that inhibition of Plk1 induces a degradation of CAP-H2 through Cdc20-mediated ubiquitin-proteasome machinery. These results suggest that the expression levels of CAP-H2 are regulated by Plk1 and Cdc20 for proper chromosomal organization during mitosis.
Title: Plk1 phosphorylation of CAP-H2 triggers chromosome condensation by condensin II at the early phase of mitosis.
Condensin II(CAP-D3 and CAP-H2) and GAIT subunits associate with L1 RNA in a co-dependent manner, independent of IFN-gamma. These findings suggest that cooperation between the Condensin II and GAIT complexes may facilitate a novel mechanism of L1 repression, thus contributing to the maintenance of genome stability in somatic cells
Title: Condensin II and GAIT complexes cooperate to restrict LINE-1 retrotransposition in epithelial cells.
Results suggest that DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy through apoptosis
Title: DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy in Alzheimer's disease and amnesic mild cognitive impairment patients.
DNA methylation in the NCAPH2/LMF2 promoter region is significantly decreased in Alzheimer disease.
Title: Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer's Disease and Amnesic Mild Cognitive Impairment.
CAPH2 protein accumulates as cells approach senescence, and knockdown of CAPH2 inhibits senescence.
Title: A novel role for the condensin II complex in cellular senescence.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SCO2__5555 (e-PCR)
- UniSTS:463889

AL008670 (e-PCR)
- UniSTS:9510

G65740 (e-PCR)
- UniSTS:166995

RH103105 (e-PCR)
- UniSTS:97439

RH92958 (e-PCR)
- UniSTS:87461

WI-11276 (e-PCR)
- UniSTS:14830

Clone Names

MGC2455, MGC4133, MGC5305, MGC8640, MGC15858, MGC18000

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in female meiosis chromosome separation	IEA Inferred from Electronic Annotation more info
involved_in meiotic chromosome condensation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic chromosome condensation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic sister chromatid separation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of chromosome condensation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of chromosome segregation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of chromosome separation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in condensed nuclear chromosome	ISO Inferred from Sequence Orthology more info
part_of condensin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of condensin complex	NAS Non-traceable Author Statement more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: condensin-2 complex subunit H2

Names: CAP-H2 subunit of the condensin II complex; CTA-384D8.36; chromosome-associated protein H2; 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.

Genomic

NG_021419.1 RefSeqGene

Range

5009..21565

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185011.2 → NP_001171940.1 condensin-2 complex subunit H2 isoform 3

See identical proteins and their annotated locations for NP_001171940.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

BC009441, DB498781, U62317

Consensus CDS

CCDS54546.1

UniProtKB/TrEMBL

A0A0A6YYG7

Related

ENSP00000299821.11, ENST00000299821.15

Conserved Domains (3) summary

pfam06278
Location:11 → 123

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:316 → 588

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:147 → 252

CNDH2_M; PF16858
NM_014551.5 → NP_055366.3 condensin-2 complex subunit H2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

BC001833, DB498781

Consensus CDS

CCDS43038.1

UniProtKB/TrEMBL

E5RJN3

Related

ENSP00000379050.3, ENST00000395698.7

Conserved Domains (2) summary

pfam06278
Location:11 → 123

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16869
Location:147 → 252

CNDH2_M; PF16858
NM_152299.4 → NP_689512.2 condensin-2 complex subunit H2 isoform 2

See identical proteins and their annotated locations for NP_689512.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

BC001937, BC009441, DB498781, U62317

Consensus CDS

CCDS14094.2

UniProtKB/Swiss-Prot

B7WPH1, O43788, Q13391, Q6IBW4, Q96C14, Q96GJ0, Q9BQ71, Q9BUT3, Q9BVD1

UniProtKB/TrEMBL

A0A0A6YYG7

Related

ENSP00000410088.2, ENST00000420993.7

Conserved Domains (3) summary

pfam06278
Location:11 → 123

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:316 → 587

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:147 → 252

CNDH2_M; PF16858

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

50508224..50524780

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005261912.5 → XP_005261969.1 condensin-2 complex subunit H2 isoform X1

UniProtKB/TrEMBL

A0A0A6YYG7

Conserved Domains (3) summary

pfam06278
Location:10 → 96

CNDH2_N; Condensin II complex subunit CAP-H2 or CNDH2, N-terminal

pfam16858
Location:289 → 561

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:120 → 225

CNDH2_M; PF16858
XM_017028793.3 → XP_016884282.1 condensin-2 complex subunit H2 isoform X2

UniProtKB/TrEMBL

A0A0A6YYG7
XM_011530685.3 → XP_011528987.1 condensin-2 complex subunit H2 isoform X3

Conserved Domains (2) summary

pfam16858
Location:136 → 408

CNDH2_C; Condensin II complex subunit CAP-H2 or CNDH2, C-term

pfam16869
Location:1 → 72

CNDH2_M; PF16858
XM_047441352.1 → XP_047297308.1 condensin-2 complex subunit H2 isoform X4
XM_047441353.1 → XP_047297309.1 condensin-2 complex subunit H2 isoform X5
XM_047441354.1 → XP_047297310.1 condensin-2 complex subunit H2 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

51018752..51035345

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325588.1 → XP_054181563.1 condensin-2 complex subunit H2 isoform X1

UniProtKB/TrEMBL

A0A0A6YYG7
XM_054325589.1 → XP_054181564.1 condensin-2 complex subunit H2 isoform X2

UniProtKB/TrEMBL

A0A0A6YYG7