Hs00137275_cn

• Gene Symbol: NCAPH2
• Assay Reference Genome Location: Chr.22:50523982 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	2550	NP_001171940.1
	NM_152299.3	20	2547	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	637	NP_001162580.1
	NM_001169110.1	2	588	NP_001162581.1
	NM_001169111.1	2	606	NP_001162582.1
	NM_005138.2	2	577	NP_005129.2
	AL021683.1	2	515	CAA16671.1
	BC102024.1	2	505	AAI02025.1
	BC102025.1	2	505	AAI02026.1
	BG392981.1	2	589
	BM787182.1
	BQ878572.1	2	577
	CN409692.1	2	545
	CR456569.1	1	435	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	ODF3B CHKB SYCE3 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B
nsv1160782	Chr.22:50463961 - 50571524 on Build GRCh38	Deletion	ODF3B MIOX SYCE3 SBF1 CHKB-CPT1B ADM2 SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	MIOX CHKB CHKB-CPT1B TYMP LMF2 NCAPH2 ODF3B SYCE3 CHKB-AS1 ADM2 SCO2 KLHDC7B CPT1B
nsv834238	Chr.22:50402690 - 50556965 on Build GRCh38	Loss	ODF3B MIOX SYCE3 PPP6R2 SBF1 ADM2 SCO2 LOC107985556 TYMP KLHDC7B LMF2 NCAPH2
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	MIOX CHKB PPP6R2 SBF1 CHKB-CPT1B TYMP LMF2 NCAPH2 ODF3B SYCE3 ADM2 SCO2 KLHDC7B CPT1B
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	ODF3B CHKB SYCE3 CHKB-AS1 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 MAPK8IP2 CPT1B
nsv955201	Chr.22:50421672 - 50537371 on Build GRCh38	Deletion	ODF3B MIOX PPP6R2 SBF1 ADM2 SCO2 LOC107985556 TYMP LMF2 NCAPH2
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	MIOX CHKB CHKB-CPT1B TYMP LMF2 NCAPH2 MAPK8IP2 ODF3B SYCE3 CHKB-AS1 ADM2 SCO2 ARSA KLHDC7B CPT1B
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	ODF3B CHKB SYCE3 CHKB-AS1 CHKB-CPT1B SCO2 TYMP KLHDC7B LMF2 NCAPH2 CPT1B

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