KCNB2 (potassium voltage-gated channel subfamily B member 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: 9312
• Gene name: Potassium voltage-gated channel subfamily B member 2
• Gene symbol: KCNB2
• Synonyms (NCBI Gene): KV2.2
• Chromosome: 8
• Chromosome location: 8q21.11
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

miRNA Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440406	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440406	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT1080446	hsa-miR-2052	CLIP-seq
MIRT1080447	hsa-miR-2116	CLIP-seq
MIRT1080448	hsa-miR-4677-5p	CLIP-seq
MIRT1080449	hsa-miR-4704-3p	CLIP-seq
MIRT2019985	hsa-miR-1208	CLIP-seq
MIRT1080447	hsa-miR-2116	CLIP-seq
MIRT1080448	hsa-miR-4677-5p	CLIP-seq
MIRT1080449	hsa-miR-4704-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	ISS
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	9612272
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	33124732
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	ISS
GO:0006813	Process	Potassium ion transport	TAS	9612272
GO:0006940	Process	Regulation of smooth muscle contraction	TAS	9612272
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9612272
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043204	Component	Perikaryon	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0072659	Process	Protein localization to plasma membrane	ISS

Other IDs

• MIM: 607738
• HGNC: 6232
• e!Ensembl: ENSG00000182674

Protein

• UniProt ID: Q92953
• Protein name: Potassium voltage-gated channel subfamily B member 2 (Voltage-gated potassium channel subunit Kv2.2)
• Protein function: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting pot
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	192 → 428	Ion transport protein	Family
  PF02214	BTB_2	37 → 136	BTB/POZ domain	Domain
  PF03521	Kv2channel	471 → 759	Kv2 voltage-gated K+ channel	Family

• Sequence:

  MAEKAPPGLNRKTSRSTLSLPPEPVDIIRSKTCSRRVKINVGGLNHEVLWRTLDRLPRTR
  LGKLRDCNTHESLLEVCDDYNLNENEYFFDRHPGAFTSILNFYRTGKLHMMEEMCALSFG
  QELDYWGIDEIYLESCCQARYHQKKEQMNEELRREAETMREREGEEFDNTCCPDKRKKLW
  DLLEKPNSSVAAKILAIVSILFIVLSTIALSLNTLPELQETDEFGQLNDNRQLAHVEAVC
  IAWFTMEYLLRFLSSPNKWKFFKGPLNVIDLLAILPYYVTIFLTESNKSVLQFQNVRRVV
  QIFRIMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDE
  DATKFTSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNF
  SEFYKEQKRQEKAIKRREALERAKRNGSIVSMNLKDAFARSMELIDVAVEKAGESANTKD
  SADDNHLSPSRWKWARKALSETSSNKSFENKYQEVSQKDSHEQLNNTSSSSPQHLSAQKL
  EMLYNEITKTQPHSHPNPDCQEKPERPSAYEEEIEMEEVVCPQEQLAVAQTEVIVDMKST
  SSIDSFTSCATDFTETERSPLPPPSASHLQMKFPTDLPGTEEHQRARGPPFLTLSREKGP
  AARDGTLEYAPVDITVNLDASGSQCGLHSPLQSDNATDSPKSSLKGSNPLKSRSLKVNFK
  ENRGSAPQTPPSTARPLPVTTADFSLTTPQHISTILLEETPSQGDRPLLGTEVSAPCQGP
  SKGLSPRFPKQKLFPFSSRERRSFTEIDTGDDEDFLELPGAREEKQVDSSPNCFADKPSD
  GRDPLREEGSVGSSSPQDTGHNCRQDIYHAVSEVKKDSSQEGCKMENHLFAPEIHSNPGD
  TGYCPTRETSM

• Sequence length: 911

Pathways

Reactome Pathway:

Voltage gated Potassium channels

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 (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BRAIN INFARCTION	—	GWAS catalog	28322283	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	28322283	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	risk factor	ClinVar GWAS catalog	37890997	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	29695241	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	38767906	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	33608531	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNB2-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	28322283	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	37985818	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	19010793	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	38503299	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	33608531	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	35181757	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	38767906	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32499647, 38374256, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brachydactyly	Brachydactyly	BEFREE	20015959		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24416132	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	25339316	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SLC29A4 3 shared diseasesBrain infarction, Cerebral amyloid angiopathy, Lewy body disease 3 shared evidence sourcesGWAS catalog (Brain infarction), GWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Lewy body disease) Related via 3 shared diseases including Brain infarction, Cerebral amyloid angiopathy — evidence mostly GWAS catalog. TERF1 3 shared diseasesGastroesophageal reflux disease, Peptic ulcer disease, Post-traumatic stress disorder 3 shared evidence sourcesGWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Peptic ulcer disease), GWAS catalog (Post-traumatic stress disorder) Related via 3 shared diseases including Gastroesophageal reflux disease, Peptic ulcer disease — evidence mostly GWAS catalog. ABTB2 3 shared diseasesBrain infarction, Cerebral amyloid angiopathy, Lewy body disease 3 shared evidence sourcesGWAS catalog (Brain infarction), GWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Lewy body disease) Related via 3 shared diseases including Brain infarction, Cerebral amyloid angiopathy — evidence mostly GWAS catalog. ELFN1 3 shared diseasesGastroesophageal reflux disease, Peptic ulcer disease, Post-traumatic stress disorder 3 shared evidence sourcesGWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Peptic ulcer disease), GWAS catalog (Post-traumatic stress disorder) Related via 3 shared diseases including Gastroesophageal reflux disease, Peptic ulcer disease — evidence mostly GWAS catalog. KAZN 5 shared diseasesBrain infarction, Cerebral amyloid angiopathy, Gastroesophageal reflux disease, Lewy body disease, Post-traumatic stress disorder 5 shared evidence sourcesGWAS catalog (Brain infarction), GWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Lewy body disease), GWAS catalog (Post-traumatic stress disorder) Related via 5 shared diseases including Brain infarction, Cerebral amyloid angiopathy — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SLC29A4	3	["Brain infarction","Cerebral amyloid angiopathy","Lewy body disease"]	0	[]	3	["GWAS catalog (Brain infarction)","GWAS catalog (Cerebral amyloid angiopathy)","GWAS catalog (Lewy body disease)"]
TERF1	3	["Gastroesophageal reflux disease","Peptic ulcer disease","Post-traumatic stress disorder"]	0	[]	3	["GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Peptic ulcer disease)","GWAS catalog (Post-traumatic stress disorder)"]
ABTB2	3	["Brain infarction","Cerebral amyloid angiopathy","Lewy body disease"]	0	[]	3	["GWAS catalog (Brain infarction)","GWAS catalog (Cerebral amyloid angiopathy)","GWAS catalog (Lewy body disease)"]
ELFN1	3	["Gastroesophageal reflux disease","Peptic ulcer disease","Post-traumatic stress disorder"]	0	[]	3	["GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Peptic ulcer disease)","GWAS catalog (Post-traumatic stress disorder)"]
KAZN	5	["Brain infarction","Cerebral amyloid angiopathy","Gastroesophageal reflux disease","Lewy body disease","Post-traumatic stress disorder"]	0	[]	5	["GWAS catalog (Brain infarction)","GWAS catalog (Cerebral amyloid angiopathy)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Lewy body disease)","GWAS catalog (Post-traumatic stress disorder)"]

Diseases Linked via Similar Genes

Ocular hypotension Linked via 1 of 5 related genesABTB2 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesELFN1 Diverticular disease Linked via 1 of 5 related genesELFN1 Myocardial infarction Linked via 1 of 5 related genesELFN1 Substance abuse Linked via 1 of 5 related genesELFN1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Ocular hypotension	1	["ABTB2"]
Attention deficit hyperactivity disorder	1	["ELFN1"]
Diverticular disease	1	["ELFN1"]
Myocardial infarction	1	["ELFN1"]
Substance abuse	1	["ELFN1"]