ADHDgene Database

Gene Report

Basic Info

Approved Symbol	CPLX2
Symbol Alias	CPX-2, DKFZp547D155
Approved Name	complexin 2
Location	5q35.2
Position	chr5:175223313-175311023, +
External Links	HGNC: 2310 Entrez Gene: 10814 Ensembl: ENSG00000145920 UCSC: uc003mdf.1
No. of Studies	2 (significant: 1; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Sanchez-Mora, C., 2012	nominal differences were found with adulthood ADHD.	Significant
Lionel, A. C., 2011	Rare inherited CNVs in ADHD probands which absent in controls overlapped with CPLX2, which indicate it a new candidate susceptibility gene for ADHD.	Trend

Gene related SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2114968	Chr5:175313487(Fwd)	downstream_gene_variant	1(1/0/0)
rs11134942	Chr5:175313212(Fwd)	downstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs10866692	Chr5:175310383(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1560034	Chr5:175308060(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs10052184	Chr5:175298874(Fwd)	5_prime_UTR_variant; intron_variant; upstream_gene_variant
rs3180249	Chr5:175310525(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs2382114	Chr5:175313968(Fwd)	downstream_gene_variant
rs7718100	Chr5:175312018(Fwd)	downstream_gene_variant
rs4077871	Chr5:175306331(Fwd)	downstream_gene_variant; feature_truncation; intron_variant
rs3892909	Chr5:175305591(Fwd)	intron_variant
rs4867808	Chr5:175301715(Fwd)	intron_variant; upstream_gene_variant
rs11134938	Chr5:175293505(Fwd)	intron_variant; upstream_gene_variant
rs6860661	Chr5:175281021(Fwd)	intron_variant
rs871853	Chr5:175282310(Fwd)	intron_variant
rs1560033	Chr5:175286271(Fwd)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Lionel[2011]_6	chr5:0-0 (NCBI36 / hg18)	131	5q35.2	Gain	M
CNV_Elia[2010]_53	chr5:175136520-175195299 (NCBI Build 35 (hg17))	58780	5q35.2	Deletion (hemizygous)	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0045202	synapse	Cellular Component		31
GO:0006904	vesicle docking involved in exocytosis	Biological Process	TAS[7553862]	8
GO:0007399	nervous system development	Biological Process		54
GO:0005829	cytosol	Cellular Component		447
GO:0030154	cell differentiation	Biological Process		51
GO:0030425	dendrite	Cellular Component		46
GO:0016079	synaptic vesicle exocytosis	Biological Process		5
GO:0017075	syntaxin-1 binding	Molecular Function		8
GO:0043025	neuronal cell body	Cellular Component		51
GO:0043303	mast cell degranulation	Biological Process		2
GO:0031201	SNARE complex	Cellular Component		13
GO:0031915	positive regulation of synaptic plasticity	Biological Process		2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CPLX2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
CPLX1	6	synapse; cytosol; dendrite; synaptic vesicle exocytosis; syntaxin-1 binding; neuronal cell body;
MAP1S	5	synapse; nervous system development; cytosol; dendrite; neuronal cell body;

Genes shared at least 2 KEGG pathways with CPLX2 (count: 0)

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Region: chr5:175223313..175311023 View in gBrowse