Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3742
Gene name	Potassium voltage-gated channel subfamily A member 6
Gene symbol	KCNA6
Synonyms (NCBI Gene)	HBK2KV1.6PPP1R96
Chromosome	12
Chromosome location	12p13.32
Summary	Potassium 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, neuronal excitability, e

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miRTarBase ID	miRNA	Experiments	Reference
MIRT440407	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT440408	hsa-miR-541-5p	HITS-CLIP	24374217
MIRT440407	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT440408	hsa-miR-541-5p	HITS-CLIP	24374217
MIRT1080256	hsa-miR-105	CLIP-seq
MIRT1080257	hsa-miR-1252	CLIP-seq
MIRT1080258	hsa-miR-1267	CLIP-seq
MIRT1080259	hsa-miR-1321	CLIP-seq
MIRT1080260	hsa-miR-185	CLIP-seq
MIRT1080261	hsa-miR-2110	CLIP-seq
MIRT1080262	hsa-miR-2278	CLIP-seq
MIRT1080263	hsa-miR-2909	CLIP-seq
MIRT1080264	hsa-miR-299-3p	CLIP-seq
MIRT1080265	hsa-miR-3148	CLIP-seq
MIRT1080266	hsa-miR-3151	CLIP-seq
MIRT1080267	hsa-miR-3162-5p	CLIP-seq
MIRT1080268	hsa-miR-3173-3p	CLIP-seq
MIRT1080269	hsa-miR-3646	CLIP-seq
MIRT1080270	hsa-miR-3662	CLIP-seq
MIRT1080271	hsa-miR-3692	CLIP-seq
MIRT1080272	hsa-miR-3978	CLIP-seq
MIRT1080273	hsa-miR-4271	CLIP-seq
MIRT1080274	hsa-miR-4306	CLIP-seq
MIRT1080275	hsa-miR-4428	CLIP-seq
MIRT1080276	hsa-miR-4447	CLIP-seq
MIRT1080277	hsa-miR-4472	CLIP-seq
MIRT1080278	hsa-miR-4644	CLIP-seq
MIRT1080279	hsa-miR-4659a-5p	CLIP-seq
MIRT1080280	hsa-miR-4659b-5p	CLIP-seq
MIRT1080281	hsa-miR-4668-5p	CLIP-seq
MIRT1080282	hsa-miR-4691-3p	CLIP-seq
MIRT1080283	hsa-miR-4725-3p	CLIP-seq
MIRT1080284	hsa-miR-4739	CLIP-seq
MIRT1080285	hsa-miR-4756-5p	CLIP-seq
MIRT1080286	hsa-miR-4776-3p	CLIP-seq
MIRT1080287	hsa-miR-4779	CLIP-seq
MIRT1080288	hsa-miR-4793-5p	CLIP-seq
MIRT1080289	hsa-miR-489	CLIP-seq
MIRT1080290	hsa-miR-491-5p	CLIP-seq
MIRT1080291	hsa-miR-587	CLIP-seq
MIRT2019948	hsa-miR-132	CLIP-seq
MIRT2019949	hsa-miR-149	CLIP-seq
MIRT2019950	hsa-miR-1910	CLIP-seq
MIRT2019951	hsa-miR-1915	CLIP-seq
MIRT2019952	hsa-miR-212	CLIP-seq
MIRT2019953	hsa-miR-3064-5p	CLIP-seq
MIRT2019954	hsa-miR-320e	CLIP-seq
MIRT2019955	hsa-miR-3613-3p	CLIP-seq
MIRT2019956	hsa-miR-4326	CLIP-seq
MIRT2019957	hsa-miR-4704-3p	CLIP-seq
MIRT2019958	hsa-miR-4726-3p	CLIP-seq
MIRT2019959	hsa-miR-4786-3p	CLIP-seq
MIRT2019960	hsa-miR-4794	CLIP-seq
MIRT2019961	hsa-miR-607	CLIP-seq
MIRT1080260	hsa-miR-185	CLIP-seq
MIRT2019950	hsa-miR-1910	CLIP-seq
MIRT2251839	hsa-miR-3667-3p	CLIP-seq
MIRT2251840	hsa-miR-4251	CLIP-seq
MIRT1080274	hsa-miR-4306	CLIP-seq
MIRT2019956	hsa-miR-4326	CLIP-seq
MIRT2251841	hsa-miR-4476	CLIP-seq
MIRT1080278	hsa-miR-4644	CLIP-seq
MIRT2251842	hsa-miR-4691-5p	CLIP-seq
MIRT1080289	hsa-miR-489	CLIP-seq
MIRT2251843	hsa-miR-502-5p	CLIP-seq
MIRT2251844	hsa-miR-760	CLIP-seq
MIRT2389611	hsa-miR-1273e	CLIP-seq
MIRT2389612	hsa-miR-3158-3p	CLIP-seq
MIRT2389613	hsa-miR-361-3p	CLIP-seq
MIRT2389614	hsa-miR-3943	CLIP-seq
MIRT2389615	hsa-miR-4446-3p	CLIP-seq
MIRT2389616	hsa-miR-4676-5p	CLIP-seq
MIRT2389617	hsa-miR-4761-5p	CLIP-seq
MIRT2389618	hsa-miR-575	CLIP-seq
MIRT1080256	hsa-miR-105	CLIP-seq
MIRT2430216	hsa-miR-1301	CLIP-seq
MIRT2430217	hsa-miR-4660	CLIP-seq
MIRT2430218	hsa-miR-4688	CLIP-seq
MIRT2430219	hsa-miR-486-3p	CLIP-seq
MIRT2430220	hsa-miR-5047	CLIP-seq
MIRT2442287	hsa-miR-412	CLIP-seq

35 Show/Hide all (35)

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	IDA	14575698
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	36318112
GO:0005249	Function	Voltage-gated potassium channel activity	TAS	2347305
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	2347305
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	14575698
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	2347305
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	TAS	2347305
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	2347305
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	ISS
GO:0043679	Component	Axon terminus	IEA
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	IDA	2347305
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
176257	6225	ENSG00000151079

P17658

Protein name

Potassium voltage-gated channel subfamily A member 6 (Voltage-gated potassium channel HBK2) (Voltage-gated potassium channel subunit Kv1.6)

Protein function

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:145

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	173 → 469	Ion transport protein	Family
PF02214	BTB_2	43 → 134	BTB/POZ domain	Domain

Sequence

MRSEKSLTLAAPGEVRGPEGEQQDAGDFPEAGGGGGCCSSERLVINISGLRFETQLRTLS
LFPDTLLGDPGRRVRFFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDIFLEE
IRFYQLGDEALAAFREDEGCLPEGGEDEKPLPSQPFQRQVWLLFEYPESSGPARGIAIVS
VLVILISIVIFCLETLPQFRVDGRGGNNGGVSRVSPVSRGSQEEEEDEDDSYTFHHGITP
GEMGTGGSSSLSTLGGSFFTDPFFLVETLCIVWFTFELLVRFSACPSKPAFFRNIMNIID
LVAIFPYFITLGTELVQQQEQQPASGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSK
GLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADDDDSLFPSIPDAFWWAVVTM
TTVGYGDMYPMTVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETEQEEQGQYTHV
TCGQPAPDLRATDNGLGKPDFPEANRERRPSYLPTPHRAYAEKRMLTEV

Sequence length

529

Interactions

View interactions

Reactome Pathway
Voltage gated Potassium channels

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (9)
CEREBELLAR ATAXIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GENERALIZED SEIZURES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36318112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36318112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33428857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	35321643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	36318112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	11310626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36318112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNA6 (potassium voltage-gated channel subfamily A member 6)

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