Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (81)

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

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
PF02214	BTB_2	43 → 134	BTB/POZ domain	Domain
PF00520	Ion_trans	173 → 469	Ion transport protein	Family

Sequence

MRSEKSLTLAAPGEVRGPEGEQQDAGDFPEAGGGGGCCSSERLVINISGLRFETQLRTLS
LFPDTLLGDPGRRVRFFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDIFLEE
IRFYQLGDEALAAFREDEGCLPEGGEDEKPLPSQPFQRQVWLLFEYPESSGPARGIAIVS
VLVILISIVIFCLETLPQFRVDGRGGNNGGVSRVSPVSRGSQEEEEDEDDSYTFHHGITP
GEMGTGGSSSLSTLGGSFFTDPFFLVETLCIVWFTFELLVRFSACPSKPAFFRNIMNIID
LVAIFPYFITLGTELVQQQEQQPASGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSK
GLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADDDDSLFPSIPDAFWWAVVTM
TTVGYGDMYPMTVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETEQEEQGQYTHV
TCGQPAPDLRATDNGLGKPDFPEANRERRPSYLPTPHRAYAEKRMLTEV

Sequence length

529

Interactions

View interactions

	Reactome
			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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	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.
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

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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)