KCNMB2 (potassium calcium-activated channel subfamily M regulatory beta subunit 2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10242
• Gene name: Potassium calcium-activated channel subfamily M regulatory beta subunit 2
• Gene symbol: KCNMB2
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3q26.32
• Summary: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the

miRNA Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734908	hsa-miR-3194-3p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization, Flow cytometry	34026626
MIRT1082087	hsa-miR-1276	CLIP-seq
MIRT1082088	hsa-miR-3942-5p	CLIP-seq
MIRT1082089	hsa-miR-4703-5p	CLIP-seq
MIRT1082090	hsa-miR-4719	CLIP-seq
MIRT1082091	hsa-miR-513b	CLIP-seq
MIRT2020422	hsa-miR-4778-3p	CLIP-seq
MIRT2252179	hsa-miR-181a	CLIP-seq
MIRT2252180	hsa-miR-181b	CLIP-seq
MIRT2252181	hsa-miR-181c	CLIP-seq
MIRT2252182	hsa-miR-181d	CLIP-seq
MIRT2252183	hsa-miR-4262	CLIP-seq
MIRT2252184	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IDA	10692449
GO:0005267	Function	Potassium channel activity	IEA
GO:0005513	Process	Detection of calcium ion	IBA
GO:0005513	Process	Detection of calcium ion	IDA	10692449
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IDA	10692449
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	10692449
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10692449
GO:0008200	Function	Ion channel inhibitor activity	TAS	10097176
GO:0015269	Function	Calcium-activated potassium channel activity	IBA
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	10692449
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	TAS	10097176
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IDA	10692449
GO:0019229	Process	Regulation of vasoconstriction	TAS	10692449
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 605214
• HGNC: 6286
• e!Ensembl: ENSG00000197584

Protein

• UniProt ID: Q9Y691
• Protein name: Calcium-activated potassium channel subunit beta-2 (BK channel subunit beta-2) (BKbeta2) (Hbeta2) (Calcium-activated potassium channel, subfamily M subunit beta-2) (Charybdotoxin receptor subunit beta-2) (Hbeta3) (K(VCA)beta-2) (Maxi K channel subunit bet
• Protein function: Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and
• PDB: 1JO6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03185	CaKB	38 → 229	Calcium-activated potassium channel, beta subunit	Family
  PF09303	KcnmB2_inactiv	1 → 32	KCNMB2, ball and chain domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney, heart and brain. Highly expressed in ovary. Expressed at low level in other tissues. {ECO:0000269|PubMed:10097176, ECO:0000269|PubMed:10377337, ECO:0000269|PubMed:10692449}.
• Sequence:

  MFIWTSGRTSSSYRHDEKRNIYQKIRDHDLLDKRKTVTALKAGEDRAILLGLAMMVCSIM
  MYFLLGITLLRSYMQSVWTEESQCTLLNASITETFNCSFSCGPDCWKLSQYPCLQVYVNL
  TSSGEKLLLYHTEETIKINQKCSYIPKCGKNFEESMSLVNVVMENFRKYQHFSCYSDPEG
  NQKSVILTKLYSSNVLFHSLFWPTCMMAGGVAIVAMVKLTQYLSLLCERIQRINR

• Sequence length: 235

Pathways

KEGG Pathway	Reactome Pathway
cGMP-PKG signaling pathway	Ca2+ activated K+ channels
Vascular smooth muscle contraction
Insulin secretion

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	23829686	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	22688191	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	19684603	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	23829686	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	28468790	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LUPUS ERYTHEMATOSUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29317602	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	22688191	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	22688191	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	24529757	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES NEPHROPATHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MYRIP 3 shared diseasesLymphoblastic leukemia, Connective tissue disease, Mixed connective tissue disease 3 shared evidence sourcesGWAS catalog (Lymphoblastic leukemia), GWAS catalog (Connective tissue disease), GWAS catalog (Mixed connective tissue disease) Related via 3 shared diseases including Lymphoblastic leukemia, Connective tissue disease — evidence mostly GWAS catalog. KCNMB3 4 shared pathwayscGMP-PKG signaling pathway, Vascular smooth muscle contraction, Insulin secretion, Ca2+ activated K+ channels Related via 4 shared pathways including cGMP-PKG signaling pathway, Vascular smooth muscle contraction. KCNMB4 4 shared pathwayscGMP-PKG signaling pathway, Vascular smooth muscle contraction, Insulin secretion, Ca2+ activated K+ channels Related via 4 shared pathways including cGMP-PKG signaling pathway, Vascular smooth muscle contraction. KCNMB1 4 shared pathwayscGMP-PKG signaling pathway, Vascular smooth muscle contraction, Insulin secretion, Ca2+ activated K+ channels Related via 4 shared pathways including cGMP-PKG signaling pathway, Vascular smooth muscle contraction. PBLD 2 shared diseasesConnective tissue disease, Mixed connective tissue disease 2 shared evidence sourcesGWAS catalog (Connective tissue disease), GWAS catalog (Mixed connective tissue disease) Related via 2 shared diseases including Connective tissue disease, Mixed connective tissue disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MYRIP	3	["Lymphoblastic leukemia","Connective tissue disease","Mixed connective tissue disease"]	0	[]	3	["GWAS catalog (Lymphoblastic leukemia)","GWAS catalog (Connective tissue disease)","GWAS catalog (Mixed connective tissue disease)"]
KCNMB3	0	[]	4	["cGMP-PKG signaling pathway","Vascular smooth muscle contraction","Insulin secretion","Ca2+ activated K+ channels"]	0	[]
KCNMB4	0	[]	4	["cGMP-PKG signaling pathway","Vascular smooth muscle contraction","Insulin secretion","Ca2+ activated K+ channels"]	0	[]
KCNMB1	0	[]	4	["cGMP-PKG signaling pathway","Vascular smooth muscle contraction","Insulin secretion","Ca2+ activated K+ channels"]	0	[]
PBLD	2	["Connective tissue disease","Mixed connective tissue disease"]	0	[]	2	["GWAS catalog (Connective tissue disease)","GWAS catalog (Mixed connective tissue disease)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 1 of 5 related genesMYRIP Male reproductive system disease Linked via 1 of 5 related genesMYRIP Pulmonary edema Linked via 1 of 5 related genesMYRIP Breast cancer Linked via 1 of 5 related genesKCNMB3 Ovarian cancer Linked via 1 of 5 related genesKCNMB4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	1	["MYRIP"]
Male reproductive system disease	1	["MYRIP"]
Pulmonary edema	1	["MYRIP"]
Breast cancer	1	["KCNMB3"]
Ovarian cancer	1	["KCNMB4"]