Gene Report

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Basic Info

Approved Symbol	KCNH7
Symbol Alias	Kv11.3, HERG3, erg3
Approved Name	potassium channel, voltage gated eag related subfamily H, member 7
Previous Name	potassium voltage-gated channel, subfamily H (eag-related), member 7
Location	2q24.3
Position	chr2:162371407-162838730, -1
External Links	HGNC: 18863 Entrez Gene: 90134 Ensembl: ENSG00000184611 UCSC: uc002uch.2
No. of Studies	3 (Positive: 2; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kuo, P. H., 2014	SNP: rs6736615	Gene-based P-value (allelic model) =0.0573, P-value (additive model) =0.0047. KCNH7, a gene associated with voltage-gated potassium channels (P= 0.0047)	Positive	Comment on Study
Strauss, K. A., 2014	SNP: rs78247304	This gene has the only candidate allele shared among them.	Positive	Comment on Study
Georgi, B., 2014	SNP: rs78247304	Amish-specific putative damaging exonic missense variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005249	voltage-gated potassium channel activity	molecular function	IBA	5
GO:0005887	integral component of plasma membrane	cellular component	IBA	158
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0004871	signal transducer activity	molecular function	IEA	32

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042391	regulation of membrane potential	biological process	IBA	13
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16
GO:0005242	inward rectifier potassium channel activity	molecular function	IEA	1
GO:0007165	signal transduction	biological process	IEA	136
GO:0007623	circadian rhythm	biological process	IEA	40
GO:0051291	protein heterooligomerization	biological process	IEA	8
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: 0)

Related other genetic factors

Gene related SNPs (count: 26)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1435013	chr2:162669601 - 162669601(1)	intron_variant	1(1/0/0)
rs78247304	chr2:162446391 - 162446391(1)	missense_variant	2(1/0/1)
rs6736615	chr2:162717280 - 162717280(1)	intron_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs13022851	chr2:162663392 - 162663392(1)	intron_variant
rs10202063	chr2:162676359 - 162676359(1)	intron_variant
rs994522	chr2:162667508 - 162667508(1)	intron_variant
rs12622109	chr2:162681070 - 162681070(1)	intron_variant
rs10182227	chr2:162664016 - 162664016(1)	intron_variant
rs12615607	chr2:162680995 - 162680995(1)	intron_variant
rs1435009	chr2:162680910 - 162680910(1)	intron_variant
rs1435011	chr2:162679177 - 162679177(1)	intron_variant
rs7562233	chr2:162672744 - 162672744(1)	intron_variant
rs9287822	chr2:162678653 - 162678653(1)	intron_variant
rs4091356	chr2:162691275 - 162691275(1)	intron_variant
rs13386589	chr2:162689774 - 162689774(1)	intron_variant
rs16847138	chr2:162688904 - 162688904(1)	intron_variant
rs9807929	chr2:162688353 - 162688353(1)	intron_variant
rs9677443	chr2:162720431 - 162720431(1)	intron_variant
rs12623571	chr2:162687576 - 162687576(1)	intron_variant
rs11887380	chr2:162708807 - 162708807(1)	intron_variant
rs1469790	chr2:162686264 - 162686264(1)	intron_variant
rs13388437	chr2:162725090 - 162725090(1)	intron_variant
rs10178129	chr2:162722248 - 162722248(1)	intron_variant
rs6705094	chr2:162741428 - 162741428(1)	intron_variant
rs11682423	chr2:162739457 - 162739457(1)	intron_variant
rs1369252	chr2:162696907 - 162696907(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q24	chr2:154000000-168900000	4 (0/3/1)
2q21-q33	chr2:129100000-208200000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)
2q24-33	chr2:154000000-208200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:162371407..162838730 View in gBrowse