Hs04701401_cn

• Gene Symbol: CATIP-AS2
• Assay Reference Genome Location: Chr.2:218329620 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 103689911
• Gene Name: CATIP antisense RNA 2
• Gene Aliases: -
• Location: Chr.2:218326241-218357966 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CATIP-AS2	NR_125777.1
	CD672221.1

Target Gene Details

• Entrez Gene ID: 25953
• Gene Name: paroxysmal nonkinesigenic dyskinesia
• Gene Aliases: BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
• Location: Chr.2:218270392-218346793 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PNKD	NM_015488.4			NP_056303.3
	NM_022572.4			NP_072094.1
	XM_017003771.1			XP_016859260.1
	XM_017003772.1			XP_016859261.1
	AB033010.1			BAA86498.1
	AK289867.1
	AY358753.1			AAQ89113.1
	BC002937.2			AAH02937.1
	BC036457.2			AAH36457.1
	BI764334.1
	BU553179.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519829	Chr.2:218286495 - 218403058 on Build GRCh38	Loss	CATIP CATIP-AS1 CTDSP1 MIR6810 TMBIM1 PNKD MIR26B SLC11A1 CATIP-AS2
esv3594336	Chr.2:218316567 - 218347668 on Build GRCh38	Gain	MIR6810 PNKD CATIP-AS2

More Information

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

Gene Ontology Categories:

Process(es)

methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione
regulation of synaptic transmission, dopaminergic
regulation of dopamine metabolic process
negative regulation of neurotransmitter secretion
neuromuscular process controlling posture

Function(s)

hydroxyacylglutathione hydrolase activity
protein binding
metal ion binding