Hs00022120_cn

• Gene Symbol: NCAPH2
• Assay Reference Genome Location: Chr.22:50523708 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 29781
• Gene Name: non-SMC condensin II complex subunit H2
• Gene Aliases: CAPH2
• Location: Chr.22:50508216-50524780 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NCAPH2	NM_001185011.1	20	2276	NP_001171940.1
	NM_152299.3	20	2273	NP_689512.2

Target Gene Details

• Entrez Gene ID: 9997
• Gene Name: SCO2 cytochrome c oxidase assembly protein
• Gene Aliases: CEMCOX1, MYP6, SCO1L
• Location: Chr.22:50523568-50526439 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCO2	NM_001169109.1	2	911	NP_001162580.1
	NM_001169110.1	2	862	NP_001162581.1
	NM_001169111.1	2	880	NP_001162582.1
	NM_005138.2	2	851	NP_005129.2
	AL021683.1	2	789	CAA16671.1
	BC102024.1	2	779	AAI02025.1
	BC102025.1	2	779	AAI02026.1
	BQ878572.1
	CR456569.1	1	709	CAG30455.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2758852	Chr.22:50491090 - 50578979 on Build GRCh38	Loss	NCAPH2 SCO2 CPT1B KLHDC7B SYCE3 ODF3B CHKB-CPT1B TYMP CHKB LMF2
nsv1160782	Chr.22:50463961 - 50571524 on Build GRCh38	Deletion	MIOX ADM2 NCAPH2 SCO2 CPT1B KLHDC7B SYCE3 SBF1 ODF3B CHKB-CPT1B TYMP LMF2
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	MIOX SCO2 CPT1B ODF3B TYMP CHKB-AS1 ADM2 NCAPH2 KLHDC7B SYCE3 CHKB-CPT1B CHKB LMF2
nsv834238	Chr.22:50402690 - 50556965 on Build GRCh38	Loss	MIOX ADM2 NCAPH2 SCO2 KLHDC7B SYCE3 SBF1 ODF3B LOC107985556 PPP6R2 TYMP LMF2
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	MIOX SCO2 CPT1B ODF3B PPP6R2 TYMP ADM2 NCAPH2 KLHDC7B SYCE3 SBF1 CHKB-CPT1B CHKB LMF2
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	CHKB-AS1 NCAPH2 SCO2 CPT1B KLHDC7B SYCE3 ODF3B CHKB-CPT1B TYMP MAPK8IP2 CHKB LMF2
nsv955201	Chr.22:50421672 - 50537371 on Build GRCh38	Deletion	MIOX ADM2 NCAPH2 SCO2 SBF1 ODF3B LOC107985556 PPP6R2 TYMP LMF2
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	MIOX ARSA SCO2 CPT1B ODF3B TYMP CHKB-AS1 ADM2 NCAPH2 KLHDC7B SYCE3 CHKB-CPT1B MAPK8IP2 CHKB LMF2
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	CHKB-AS1 NCAPH2 SCO2 CPT1B KLHDC7B SYCE3 ODF3B CHKB-CPT1B TYMP CHKB LMF2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

chromosome condensation
eye development
in utero embryonic development
muscle system process
copper ion transport
cellular copper ion homeostasis
respiratory chain complex IV assembly
response to activity
respiratory electron transport chain
cell redox homeostasis
oxidation-reduction process

Function(s)

protein binding
copper ion binding