ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CNTNAP2
Symbol Alias	Caspr2, KIAA0868, NRXN4
Approved Name	contactin associated protein-like 2
Location	7q35
Position	chr7:145813453-148118090, +
External Links	HGNC: 13830 Entrez Gene: 26047 Ensembl: ENSG00000174469 UCSC: uc003weu.1
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_Elia[2010]_91	chr7:146179259-146237754 (NCBI Build 35 (hg17))	58496	7q35	Deletion (hemizygous)	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 30)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016021	integral to membrane	Cellular Component	NAS[11352571]	845
GO:0019226	transmission of nerve impulse	Biological Process	NAS[11352571]	3
GO:0019899	enzyme binding	Molecular Function	IPI[19166515]	47
GO:0021756	striatum development	Biological Process	IEP[18179893]	2
GO:0008038	neuron recognition	Biological Process	NAS[10624965]	4
GO:0008076	voltage-gated potassium channel complex	Cellular Component	IDA[10624965]	6
GO:0009986	cell surface	Cellular Component	IDA[19706678]	70
GO:0016020	membrane	Cellular Component	IDA[10624965]	139
GO:0030425	dendrite	Cellular Component		46
GO:0030673	axolemma	Cellular Component	IDA[19706678]	2
GO:0031175	neuron projection development	Biological Process		10
GO:0034613	cellular protein localization	Biological Process		9
GO:0021761	limbic system development	Biological Process	IEP[18179895]	1
GO:0021794	thalamus development	Biological Process	IEP[18179893]	4
GO:0021987	cerebral cortex development	Biological Process	IEP[18987363]	11
GO:0030424	axon	Cellular Component		35
GO:0007165	signal transduction	Biological Process		171
GO:0007155	cell adhesion	Biological Process		86
GO:0007610	behavior	Biological Process	IMP[18179893]	10
GO:0007420	brain development	Biological Process	TAS[10624965]	33
GO:0005102	receptor binding	Molecular Function		61
GO:0005794	Golgi apparatus	Cellular Component	IDA[19166515]	157
GO:0005769	early endosome	Cellular Component	IDA[19706678]	25
GO:0071625	vocalization behavior	Biological Process	IMP[19896112]	2
GO:0071205	protein localization to juxtaparanode region of axon	Biological Process		1
GO:0071109	superior temporal gyrus development	Biological Process	IEP[18179893]	2
GO:0045163	clustering of voltage-gated potassium channels	Biological Process		1
GO:0044224	juxtaparanode region of axon	Cellular Component		2
GO:0043204	perikaryon	Cellular Component		12
GO:0043025	neuronal cell body	Cellular Component		51

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04514	Cell adhesion molecules (CAMs)	20	Cell adhesion molecules are (glyco)proteins expressed on the...... Cell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, embryogenesis, and development of neuronal tissue. There are four main groups: the integrin family, the immunoglobulin superfamily, selectins, and cadherins. Membrane proteins that mediate immune cell–cell interactions fall into different categories, namely those involved in antigen recognition, costimulation and cellular adhesion. Furthermore cell-cell adhesions are important for brain morphology and highly coordinated brain functions such as memory and learning. During early development of the nervous system, neurons elongate their axons towards their targets and establish and maintain synapses through formation of cell-cell adhesions. Cell-cell adhesions also underpin axon-axon contacts and link neurons with supporting schwann cells and oligodendrocytes. More...

Genes shared at least 5 GO terms with CNTNAP2 (count: 9)

Gene Symbol	Pathway Count	Pathway List
PTPRK	7	integral to membrane; cell surface; dendrite; axon; signal transduction; cell adhesion; neuronal cell body;
SORT1	7	integral to membrane; enzyme binding; cell surface; dendrite; Golgi apparatus; early endosome; neuronal cell body;
ACHE	6	cell surface; membrane; dendrite; axon; cell adhesion; Golgi apparatus;
BACE1	5	integral to membrane; enzyme binding; cell surface; axon; Golgi apparatus;
CADM1	5	integral to membrane; dendrite; axon; brain development; receptor binding;
CHRNA4	5	integral to membrane; membrane; dendrite; signal transduction; neuronal cell body;
NCAM1	5	integral to membrane; cell surface; axon; cell adhesion; neuronal cell body;
NRXN1	5	integral to membrane; cell surface; cell adhesion; receptor binding; vocalization behavior;
TXN	5	enzyme binding; dendrite; axon; signal transduction; neuronal cell body;

Genes shared at least 2 KEGG pathways with CNTNAP2 (count: 0)

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Region: chr7:145813453..148118090 View in gBrowse