ADHDgene Database

Gene Report

Basic Info

Approved Symbol	ATP2C2
Symbol Alias	KIAA0703, SPCA2
Approved Name	ATPase, Ca++ transporting, type 2C, member 2
Name Alias	secretory pathway calcium ATPase 2
Location	16q24.1
Position	chr16:84402133-84497793, +
External Links	HGNC: 29103 Entrez Gene: 9914 Ensembl: ENSG00000064270 UCSC: uc002fhx.2
No. of Studies	2 (significant: 0; non-significant: 1; trend: 1)
Source	Literature-origin; Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Hinney, A., 2011	This GWAS in a small group of clinically ascertained young German patients with ADHD and population-based controls did not reveal genome-wide significant findings. Replication attempts in further German and international samples did also not lead to a P-value(s) below 5E-08.	Non-significant
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs9929758	Chr16:84430781(Fwd)	intron_variant	1(0/1/0)
rs10514604	Chr16:84446384(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs11149652	Chr16:84448005(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs12924247	Chr16:84432686(Fwd)	intron_variant
rs12446219	Chr16:84448621(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs13331694	Chr16:84427152(Fwd)	intron_variant
rs13335752	Chr16:84428555(Fwd)	intron_variant
rs11149651	Chr16:84447929(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_184	chr16:82924290-82965952 (NCBI Build 35 (hg17))	41663	16q24.1	Deletion (hemizygous)	Paternal
CNV_Jarick[2012]_37	chr16:82878275-83630163 (NCBI36 / hg18)	751889	16q24.1	dup

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16q23.1-24.3	chr16:74100000-90354753	1 (1/0/0)

Gene related GO terms (count: 9)

ID	Name	Type	No. of Genes in ADHDgene
GO:0055085	transmembrane transport	Biological Process	82
GO:0034220	ion transmembrane transport	Biological Process	11
GO:0046872	metal ion binding	Molecular Function	170
GO:0000139	Golgi membrane	Cellular Component	95
GO:0005388	calcium-transporting ATPase activity	Molecular Function	2
GO:0006754	ATP biosynthetic process	Biological Process	6
GO:0016021	integral to membrane	Cellular Component	845
GO:0005515	protein binding	Molecular Function	910
GO:0005524	ATP binding	Molecular Function	228

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ATP2C2 (count: 3)

Gene Symbol	Pathway Count	Pathway List
ATP2B3	7	transmembrane transport; ion transmembrane transport; metal ion binding; calcium-transporting ATPase activity; ATP biosynthetic process; integral to membrane; ATP binding;
ADCY4	5	transmembrane transport; metal ion binding; integral to membrane; protein binding; ATP binding;
ATP10A	5	transmembrane transport; ion transmembrane transport; integral to membrane; protein binding; ATP binding;

Genes shared at least 2 KEGG pathways with ATP2C2 (count: 0)

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Region: chr16:84402133..84497793 View in gBrowse