Gene Report

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Basic Info

Approved Symbol	KCNQ2
Previous Symbol	EBN, EBN1
Symbol Alias	Kv7.2, ENB1, BFNC, KCNA11, HNSPC
Approved Name	potassium channel, voltage gated KQT-like subfamily Q, member 2
Previous Name	potassium voltage-gated channel, KQT-like subfamily, member 2
Location	20q13.33
Position	chr20:63400210-63472677, -1
External Links	HGNC: 6296 Entrez Gene: 3785 Ensembl: ENSG00000075043 UCSC: uc002yey.1
No. of Studies	1 (Positive: 1; Negative: 0; 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
Borsotto, M., 2007	Other variant: KCNQ2_3'end_30-15/54, KCNQ2_3'end_30-84/37, KCNQ2_5'end_4/30/1958, KCNQ2_Intron4_30-17/37, KCNQ2_Intron12_7/30/1930, KCNQ2_Intron_30-2/62	The association results show that the KCNQ2 gene is associated with BD. The PP2A-Bgamma subunit significantly increases the current generated by KCNQ2wt, a channel normally inhibited by phosphorylation.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0007411	axon guidance	biological process	TAS	60
GO:0016021	integral component of membrane	cellular component	IBA	219
GO:0005886	plasma membrane	cellular component	ISS[16525039]; TAS	360
GO:0005249	voltage-gated potassium channel activity	molecular function	TAS[9677360]	5
GO:0006813	potassium ion transport	biological process	TAS[9677360]	6
GO:0008076	voltage-gated potassium channel complex	cellular component	IEA	8
GO:0007399	nervous system development	biological process	TAS[9425895]	40
GO:0005251	delayed rectifier potassium channel activity	molecular function	IBA	3
GO:0005267	potassium channel activity	molecular function	TAS[9430594]	4

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030506	ankyrin binding	molecular function	IPI[16525039]	3
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16
GO:0033268	node of Ranvier	cellular component	ISS[16525039]	5
GO:0043194	axon initial segment	cellular component	ISS[16525039]	5
GO:0019226	transmission of nerve impulse	biological process	IEA	7
GO:0071805	potassium ion transmembrane transport	biological process	IBA	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
KCNQ2	CALM2	NO	in vitro;in vivo;yeast 2-hybrid	12032157
KCNQ2	CALM1	NO	in vitro;in vivo;yeast 2-hybrid	12032157
KCNQ2	PRKCA	NO	in vitro	12754513
KCNQ2	ARIH2	NO	yeast 2-hybrid	16169070
KCNQ2	CALM3	NO	in vitro;in vivo;yeast 2-hybrid	12032157

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 6)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
KCNQ2_Intron4_30-17/37	point mutation	Intron4	1 (0/1/0)
KCNQ2_Intron_30-2/62	point mutation	Intron	1 (1/0/0)
KCNQ2_Intron12_7/30/1930	point mutation	Intron12	1 (1/0/0)
KCNQ2_5'end_4/30/1958	point mutation	5'end	1 (0/1/0)
KCNQ2_3'end_30-84/37	point mutation	3'end	1 (0/1/0)
KCNQ2_3'end_30-15/54	point mutation	3'end	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 20	chr20:0-64444167	4 (0/3/1)
20p11-q13	chr20:17900000-64444167	1 (1/0/0)
20q13	chr20:43100000-64444167	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr20:63400210..63472677 View in gBrowse