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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3739
Gene name	Potassium voltage-gated channel subfamily A member 4
Gene symbol	KCNA4
Synonyms (NCBI Gene)	HBK4HK1HPCN2HUKIIKCNA4LKCNA8KV1.4MCIDDSPCN2
Chromosome	11
Chromosome location	11p14.1
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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SNP ID	Visualize variation	Clinical significance	Consequence
rs779101828	C>G,T	Pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017281	hsa-miR-335-5p	Microarray	18185580
MIRT657071	hsa-miR-8485	HITS-CLIP	23824327
MIRT657070	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT657069	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657068	hsa-miR-603	HITS-CLIP	23824327
MIRT657067	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT657066	hsa-miR-3941	HITS-CLIP	23824327
MIRT657065	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT657064	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT657063	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT657071	hsa-miR-8485	HITS-CLIP	23824327
MIRT657070	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT657069	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT657068	hsa-miR-603	HITS-CLIP	23824327
MIRT657067	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT657066	hsa-miR-3941	HITS-CLIP	23824327
MIRT657065	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT657064	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT657063	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT1080251	hsa-miR-329	CLIP-seq
MIRT1080252	hsa-miR-4639-3p	CLIP-seq
MIRT2251834	hsa-miR-1301	CLIP-seq
MIRT1080251	hsa-miR-329	CLIP-seq
MIRT2251835	hsa-miR-377	CLIP-seq
MIRT2251836	hsa-miR-5047	CLIP-seq
MIRT2251837	hsa-miR-548n	CLIP-seq
MIRT2251838	hsa-miR-548t	CLIP-seq

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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	8495559
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	19912772, 27582084
GO:0005249	Function	Voltage-gated potassium channel activity	TAS	2001794
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	7477295, 9786987, 11937501, 16169070, 19968958, 24550280, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8495559, 19912772
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	2001794
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	IMP	8495559
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	2001794
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030955	Function	Potassium ion binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043197	Component	Dendritic spine	IBA
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	8495559
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19912772
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
176266	6222	ENSG00000182255

P22459

Protein name

Potassium voltage-gated channel subfamily A member 4 (HPCN2) (Voltage-gated K(+) channel HuKII) (Voltage-gated potassium channel HBK4) (Voltage-gated potassium channel HK1) (Voltage-gated potassium channel subunit Kv1.4)

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. The channe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07941	K_channel_TID	1 → 75	Potassium channel Kv1.4 tandem inactivation domain	Family
PF02214	BTB_2	178 → 269	BTB/POZ domain	Domain
PF00520	Ion_trans	306 → 571	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, and at lower levels in the testis, lung, kidney, colon and heart (PubMed:27582084). Detected in heart ventricle. {ECO:0000269|PubMed:2001794, ECO:0000269|PubMed:27582084}.

Sequence

MEVAMVSAESSGCNSHMPYGYAAQARARERERLAHSRAAAAAAVAAATAAVEGSGGSGGG
SHHHHQSRGACTSHDPQSSRGSRRRRRQRSEKKKAHYRQSSFPHCSDLMPSGSEEKILRE
LSEEEEDEEEEEEEEEEGRFYYSEDDHGDECSYTDLLPQDEGGGGYSSVRYSDCCERVVI
NVSGLRFETQMKTLAQFPETLLGDPEKRTQYFDPLRNEYFFDRNRPSFDAILYYYQSGGR
LKRPVNVPFDIFTEEVKFYQLGEEALLKFREDEGFVREEEDRALPENEFKKQIWLLFEYP
ESSSPARGIAIVSVLVILISIVIFCLETLPEFRDDRDLVMALSAGGHGGLLNDTSAPHLE
NSGHTIFNDPFFIVETVCIVWFSFEFVVRCFACPSQALFFKNIMNIIDIVSILPYFITLG
TDLAQQQGGGNGQQQQAMSFAILRIIRLVRVFRIFKLSRHSKGLQILGHTLRASMRELGL
LIFFLFIGVILFSSAVYFAEADEPTTHFQSIPDAFWWAVVTMTTVGYGDMKPITVGGKIV
GSLCAIAGVLTIALPVPVIVSNFNYFYHRETENEEQTQLTQNAVSCPYLPSNLLKKFRSS
TSSSLGDKSEYLEMEEGVKESLCAKEEKCQGKGDDSETDKNNCSNAKAVETDV

Sequence length

653

Interactions

View interactions

	KEGG		Reactome
	Cortisol synthesis and secretion Cushing syndrome		Voltage gated Potassium channels

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	Uncertain significance	rs200225575, rs2133454620, rs779101828	RCV001328934 RCV002295371 RCV000736033

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37350390
Arrhythmias Cardiac	Associate	28575239
Breast Neoplasms	Associate	24578158
Drug Resistant Epilepsy	Associate	28388656
Epilepsy	Associate	35439054
Glioma	Associate	33498463
Graves Ophthalmopathy	Associate	32908802
Hypothyroidism	Associate	34226506
Long QT Syndrome	Associate	9307251
Pulmonary Arterial Hypertension	Associate	34349187
Substance Related Disorders	Associate	34226506

KCNA4 (potassium voltage-gated channel subfamily A member 4)