Hs03951790_cn

• Gene Symbol: UQCRC2
• Assay Reference Genome Location: Chr.16:21954091 on build GRCh38
• Cytoband: 16p12.2

Target Gene Details

• Entrez Gene ID: 7385
• Gene Name: ubiquinol-cytochrome c reductase core protein II
• Gene Aliases: MC3DN5, QCR2, UQCR2
• Location: Chr.16:21953064-21983660 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UQCRC2	NM_003366.3			NP_003357.2
	AK094006.1
	AK307535.1
	BC000484.2			AAH00484.1
	BC003136.1			AAH03136.1
	J04973.1			AAA35710.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34235	Chr.16:21276264 - 21986230 on Build GRCh38	Gain	CRYM-AS1 UQCRC2 NPIPB4 NPIPB3 SLC7A5P2 SMG1P3 LOC101927814 SNX29P1 MIR3680-1 METTL9 LOC100190986 RRN3P1 OTOA PDZD9 CRYM IGSF6
nsv1048054	Chr.16:21952632 - 21994369 on Build GRCh38	Gain	UQCRC2 PDZD9
nsv428322	Chr.16:21489241 - 22017793 on Build GRCh38	Gain	UQCRC2 MIR3680-1 NPIPB4 METTL9 SLC7A5P2 RRN3P1 SMG1P3 OTOA LOC101927814 PDZD9 IGSF6 C16orf52
esv3638193	Chr.16:21934532 - 22029031 on Build GRCh38	Gain	UQCRC2 PDZD9 C16orf52
esv34544	Chr.16:21522978 - 21986230 on Build GRCh38	Gain	UQCRC2 NPIPB4 METTL9 RRN3P1 OTOA LOC101927814 PDZD9 IGSF6

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

oxidative phosphorylation
mitochondrial electron transport, ubiquinol to cytochrome c
aerobic respiration
protein processing

Function(s)

metalloendopeptidase activity
protein binding
zinc ion binding
protein complex binding