Hs07162158_cn

• Gene Symbol: PANK2
• Assay Reference Genome Location: Chr.20:3928193 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 Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PANK2	NM_001324191.1	8	6947	NP_001311120.1
	NM_001324193.1	7	5972	NP_001311122.1
	NM_024960.5	7	6050	NP_079236.3
	NM_153638.3	7	6779	NP_705902.2
	NM_153640.3	7	6115	NP_705904.1
	NR_136715.1	7	6636

Target Gene Details

• Entrez Gene ID: 11237
• Gene Name: ring finger protein 24
• Gene Aliases: G1L
• Location: Chr.20:3927309-4015591 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF24	NM_001134337.2	6	6479	NP_001127809.1
	NM_001134338.2	7	6548	NP_001127810.1
	NM_001321749.1	6	6715	NP_001308678.1
	NM_007219.4	6	6771	NP_009150.1

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	MIR103B2 RNF24 MIR103A2 PANK2 MAVS
nsv828673	Chr.20:3738382 - 4184811 on Build GRCh38	Gain	LOC101929125 MIR103B2 CENPB SMOX RNF24 C20orf27 MIR103A2 CDC25B HSPA12B AP5S1 PANK2 SPEF1 MAVS

More Information

Additional Information:

For this assay, SNP(s) [rs201982152] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, 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
protein polyubiquitination
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process

Function(s)

pantothenate kinase activity
ATP binding
protein binding
zinc ion binding
ubiquitin protein ligase activity