Gene Report

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Basic Info

Approved Symbol	ERC2
Symbol Alias	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL
Approved Name	ELKS/RAB6-interacting/CAST family member 2
Location	3p14.3
Position	chr3:55508308-56468363, -1
External Links	HGNC: 31922 Entrez Gene: 26059 Ensembl: ENSG00000187672 UCSC: uc003dhr.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Curtis, D.,2011	SNP: rs1795648	There is a trend of this gene for significant association.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:0042734	presynaptic membrane	cellular component	ISS	16
GO:0005515	protein binding	molecular function	IPI[12923177]	563
GO:0048786	presynaptic active zone	cellular component	TAS[15217342]	5
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0030054	cell junction	cellular component	IEA	88
GO:0030426	growth cone	cellular component	ISS	22

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ERC2	PPFIA1	YES	in vitro;in vivo;yeast 2-hybrid	12923177
ERC2	PPFIA4	NO	in vitro;yeast 2-hybrid	12923177
ERC2	RIMS1	NO	in vitro;in vivo	12163476
ERC2	PPFIA3	NO	in vitro;yeast 2-hybrid	12923177
ERC2	BSN	NO	in vitro;in vivo	14734538
ERC2	PPFIA2	NO	in vitro;in vivo;yeast 2-hybrid	12923177
ERC2	PCLO	NO	in vitro;in vivo	14734538

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1795648	chr3:55537732 - 55537732(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs1696241	chr3:55538129 - 55538129(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11130477	chr3:55537489 - 55537489(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1186007	chr3:55545993 - 55545993(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs966127	chr3:55542040 - 55542040(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1167242	chr3:55541757 - 55541757(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1795631	chr3:55544694 - 55544694(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1184846	chr3:55543682 - 55543682(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

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

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

Gene relationship with SZ

Reference	Description	Result Category
21057379	There is a trend of this gene for significant association.	Trend

Gene relationship with MDD

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Region: chr3:55508308..56468363 View in gBrowse