Hs05526052_cn

• Gene Symbol: PANK2
• Assay Reference Genome Location: Chr.20:3892758 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 80025
• Gene Name: pantothenate kinase 2
• Gene Aliases: C20orf48, HARP, HSS, NBIA1, PKAN
• Location: Chr.20:3888839-3929882 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PANK2	NM_001324191.1			NP_001311120.1
	NM_001324192.1			NP_001311121.1
	NM_001324193.1			NP_001311122.1
	NM_024960.5			NP_079236.3
	NM_153638.3			NP_705902.2
	NM_153640.3			NP_705904.1
	NR_136715.1
	XM_005260836.4			XP_005260893.3
	XM_011529364.2			XP_011527666.1
	XM_011529365.2			XP_011527667.1
	XM_017028077.1			XP_016883566.1
	XM_017028079.1			XP_016883568.1
	AF494409.1			AAN32907.1
	AK021791.1			BAB13897.1
	AK097796.1			BAC05173.1
	AK310190.1
	AL519408.3
	AL532307.3
	BC065019.1			AAH65019.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3645053	Chr.20:3849918 - 3987827 on Build GRCh38	Loss	MIR103A2 PANK2 MAVS RNF24 MIR103B2
nsv828673	Chr.20:3738382 - 4184811 on Build GRCh38	Gain	MIR103A2 SPEF1 HSPA12B MAVS LOC101929125 CENPB SMOX RNF24 MIR103B2 PANK2 AP5S1 C20orf27 CDC25B

More Information

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

Panther Classification:

Molecular Function -

kinase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

spermatid development
aerobic respiration
coenzyme biosynthetic process
coenzyme A biosynthetic process
pantothenate metabolic process
phosphorylation
regulation of fatty acid metabolic process
regulation of mitochondrial membrane potential
mitochondrion morphogenesis
regulation of triglyceride metabolic process
regulation of bile acid metabolic process

Function(s)

pantothenate kinase activity
ATP binding