Hs00014927_cn

• Gene Symbol: NCAPH2
• Assay Reference Genome Location: Chr.22:50524274 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	2842	NP_001171940.1
	NM_152299.3	20	2839	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	345	NP_001162580.1
	NM_001169110.1	2	296	NP_001162581.1
	NM_001169111.1	2	314	NP_001162582.1
	NM_005138.2	2	285	NP_005129.2
	AL021683.1	2	223	CAA16671.1
	BC102024.1	2	213	AAI02025.1
	BC102025.1	2	213	AAI02026.1
	BG392981.1	2	297
	BM787182.1	2	345
	BQ878572.1	2	285
	CN409692.1	2	253
	CR456569.1	1	143	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	SCO2 LMF2 SYCE3 ODF3B KLHDC7B CPT1B CHKB TYMP NCAPH2 CHKB-CPT1B
nsv1160782	Chr.22:50463961 - 50571524 on Build GRCh38	Deletion	SCO2 SBF1 LMF2 SYCE3 ODF3B KLHDC7B CPT1B TYMP NCAPH2 MIOX ADM2 CHKB-CPT1B
nsv834238	Chr.22:50402690 - 50556965 on Build GRCh38	Loss	SCO2 SBF1 PPP6R2 LMF2 SYCE3 ODF3B LOC107985556 KLHDC7B TYMP NCAPH2 MIOX ADM2
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	SCO2 LMF2 TYMP MIOX CHKB-AS1 SYCE3 ODF3B KLHDC7B CPT1B CHKB NCAPH2 ADM2 CHKB-CPT1B
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	SCO2 PPP6R2 LMF2 TYMP MIOX SBF1 SYCE3 ODF3B KLHDC7B CPT1B CHKB NCAPH2 ADM2 CHKB-CPT1B
nsv955201	Chr.22:50421672 - 50537371 on Build GRCh38	Deletion	SCO2 SBF1 PPP6R2 LMF2 ODF3B LOC107985556 TYMP NCAPH2 MIOX ADM2
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	SCO2 LMF2 SYCE3 MAPK8IP2 ODF3B KLHDC7B CPT1B CHKB TYMP NCAPH2 CHKB-CPT1B CHKB-AS1
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	SCO2 LMF2 MAPK8IP2 ARSA TYMP MIOX CHKB-AS1 SYCE3 ODF3B KLHDC7B CPT1B CHKB NCAPH2 ADM2 CHKB-CPT1B
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	SCO2 LMF2 SYCE3 ODF3B KLHDC7B CPT1B CHKB TYMP NCAPH2 CHKB-CPT1B CHKB-AS1

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