Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	KCNMB2
Approved Name	potassium channel subfamily M regulatory beta subunit 2
Previous Name	potassium large conductance calcium-activated channel, subfamily M, beta member 2
Name Alias	BK channel beta subunit 2, "MaxiK channel beta-subunit 2", "big potassium channel beta subunit 2"
Location	3q26.32
Position	chr3:178272932-178844429, 1
External Links	HGNC: 6286 Entrez Gene: 10242 Ensembl: ENSG00000197584 UCSC: uc003fjd.4
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
Hattori, E.,2009	SNP: rs9290656	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0015269	calcium-activated potassium channel activity	molecular function	IDA[10692449]	1
GO:0005887	integral component of plasma membrane	cellular component	IDA[10692449]	158
GO:0006813	potassium ion transport	biological process	IDA[10692449]	6
GO:0007268	synaptic transmission	biological process	IBA; TAS	116
GO:0008076	voltage-gated potassium channel complex	cellular component	IDA[10692449]	8

GO terms by database search (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007596	blood coagulation	biological process	TAS	44
GO:0005513	detection of calcium ion	biological process	IDA[10692449]	2
GO:0001508	action potential	biological process	IDA[10692449]	6
GO:0019228	neuronal action potential	biological process	IDA[10692449]	11
GO:0008200	ion channel inhibitor activity	molecular function	TAS[10097176]	1
GO:0015459	potassium channel regulator activity	molecular function	TAS[10097176]	11
GO:0071805	potassium ion transmembrane transport	biological process	IDA[10692449]; IEA	9
GO:0019229	regulation of vasoconstriction	biological process	TAS[10692449]	10

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: 21)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9290656	chr3:178574565 - 178574565(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 20)

rs_ID	Location	Functional Annotation
rs1382043	chr3:178638632 - 178638632(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2902434	chr3:178638308 - 178638308(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1382044	chr3:178637932 - 178637932(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1382045	chr3:178637836 - 178637836(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs879106	chr3:178525221 - 178525221(1)	downstream_gene_variant; intron_variant
rs9861190	chr3:178654249 - 178654249(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs6443554	chr3:178642510 - 178642510(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2126687	chr3:178641628 - 178641628(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9290658	chr3:178619843 - 178619843(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1971937	chr3:178600957 - 178600957(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12492734	chr3:178593027 - 178593027(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs16829803	chr3:178592684 - 178592684(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7613009	chr3:178631290 - 178631290(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2035177	chr3:178629614 - 178629614(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1477768	chr3:178626801 - 178626801(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2054399	chr3:178623794 - 178623794(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs1477778	chr3:178546808 - 178546808(1)	intron_variant; non_coding_transcript_variant
rs35792166	chr3:178553428 - 178553428(1)	intron_variant; non_coding_transcript_variant
rs12496790	chr3:178537255 - 178537255(1)	intron_variant; non_coding_transcript_variant; splice_region_variant
rs1477779	chr3:178546793 - 178546793(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q26	chr3:161000000-183000000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:178272932..178844429 View in gBrowse