Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ATP13A4
Symbol Alias	DKFZp761I1011, FLJ37958
Approved Name	ATPase type 13A4
Location	3q29
Position	chr3:193402077-193593111, -1
External Links	HGNC: 25422 Entrez Gene: 84239 Ensembl: ENSG00000127249 UCSC: uc003ftd.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Schosser, A.,2011	SNP: rs281817, rs6788448 Haplotype: rs6788448 - rs281817()	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006812	cation transport	biological process	IEA	8
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016887	ATPase activity	molecular function	IEA	13
GO:0008152	metabolic process	biological process	IEA	50
GO:0006874	cellular calcium ion homeostasis	biological process	IEA	16
GO:0005524	ATP binding	molecular function	IEA	118
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0046872	metal ion binding	molecular function	IEA	115

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 23)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs281817	chr3:193552688 - 193552688(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs6788448	chr3:193491389 - 193491389(1)	intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 21)

rs_ID	Location	Functional Annotation
rs4687441	chr3:193502858 - 193502858(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11916762	chr3:193574246 - 193574246(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12696669	chr3:193575910 - 193575910(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7628243	chr3:193581536 - 193581536(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7620342	chr3:193581825 - 193581825(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs10804955	chr3:193579146 - 193579146(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs10804956	chr3:193579532 - 193579532(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7627322	chr3:193584507 - 193584507(1)	intron_variant; non_coding_transcript_variant
rs9846719	chr3:193584931 - 193584931(1)	intron_variant; non_coding_transcript_variant
rs7653046	chr3:193581842 - 193581842(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs9868128	chr3:193581919 - 193581919(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs281816	chr3:193553563 - 193553563(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs281811	chr3:193558883 - 193558883(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs412001	chr3:193559394 - 193559394(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7633847	chr3:193485790 - 193485790(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs6776949	chr3:193486712 - 193486712(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs13064790	chr3:193585746 - 193585746(1)	intron_variant; non_coding_transcript_variant
rs7634062	chr3:193486039 - 193486039(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9856156	chr3:193596806 - 193596806(1)	intron_variant; upstream_gene_variant
rs2130407	chr3:193492979 - 193492979(1)	3_prime_UTR_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant
rs6444724	chr3:193489591 - 193489591(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Kember[2015]_9	chr3:193136358-193140348 (UCSC build 37, hg19)	3991		deletion

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q29	chr3:192600000-198295559	2 (1/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:193402077..193593111 View in gBrowse