ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PANK2
Previous Symbol	C20orf48, NBIA1
Symbol Alias	HSS, FLJ11729, PKAN, HARP
Approved Name	pantothenate kinase 2
Previous Name	neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)
Name Alias	Hallervorden-Spatz syndrome
Location	20p13
Position	chr20:3869486-3907605, +
External Links	HGNC: 15894 Entrez Gene: 80025 Ensembl: ENSG00000125779 UCSC: uc002wkc.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_35	chr20:3036010-3839896 (NCBI Build 36.1 (hg18))	803887	20p13	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 10)

ID	Name	Type	No. of Genes in ADHDgene
GO:0044281	small molecule metabolic process	Biological Process	248
GO:0015939	pantothenate metabolic process	Biological Process	5
GO:0015937	coenzyme A biosynthetic process	Biological Process	1
GO:0009108	coenzyme biosynthetic process	Biological Process	1
GO:0008219	cell death	Biological Process	33
GO:0005524	ATP binding	Molecular Function	228
GO:0006767	water-soluble vitamin metabolic process	Biological Process	13
GO:0004594	pantothenate kinase activity	Molecular Function	1
GO:0006766	vitamin metabolic process	Biological Process	13
GO:0005758	mitochondrial intermembrane space	Cellular Component	9

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00770	Pantothenate and CoA biosynthesis	7

Genes shared at least 5 GO terms with PANK2 (count: 0)

Genes shared at least 2 KEGG pathways with PANK2 (count: 3)

Gene Symbol	Pathway Count	Pathway List
ENPP1	2	Metabolic pathways; Pantothenate and CoA biosynthesis;
ENPP3	2	Metabolic pathways; Pantothenate and CoA biosynthesis;
UPB1	2	Metabolic pathways; Pantothenate and CoA biosynthesis;

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Region: chr20:3869486..3907605 View in gBrowse