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	3738
Gene name	Potassium voltage-gated channel subfamily A member 3
Gene symbol	KCNA3
Synonyms (NCBI Gene)	HGK5HLK3HPCN3HUKIIIKV1.3MK3PCN3
Chromosome	1
Chromosome location	1p13.3
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 (42)

miRTarBase ID	miRNA	Experiments
MIRT1080236	hsa-miR-1238	CLIP-seq
MIRT1080237	hsa-miR-1915	CLIP-seq
MIRT1080238	hsa-miR-4283	CLIP-seq
MIRT1080239	hsa-miR-4303	CLIP-seq
MIRT1080240	hsa-miR-4489	CLIP-seq
MIRT1080241	hsa-miR-451b	CLIP-seq
MIRT1080242	hsa-miR-4649-3p	CLIP-seq
MIRT1080243	hsa-miR-4659a-5p	CLIP-seq
MIRT1080244	hsa-miR-4659b-5p	CLIP-seq
MIRT1080245	hsa-miR-4691-5p	CLIP-seq
MIRT1080246	hsa-miR-4704-3p	CLIP-seq
MIRT1080247	hsa-miR-4708-5p	CLIP-seq
MIRT1080248	hsa-miR-4726-3p	CLIP-seq
MIRT1080249	hsa-miR-579	CLIP-seq
MIRT1080250	hsa-miR-935	CLIP-seq
MIRT2019938	hsa-miR-129-5p	CLIP-seq
MIRT2019939	hsa-miR-3153	CLIP-seq
MIRT2019940	hsa-miR-3671	CLIP-seq
MIRT2019941	hsa-miR-4450	CLIP-seq
MIRT2019942	hsa-miR-4497	CLIP-seq
MIRT2019943	hsa-miR-4768-5p	CLIP-seq
MIRT2019944	hsa-miR-545	CLIP-seq
MIRT2019945	hsa-miR-607	CLIP-seq
MIRT2251818	hsa-miR-21	CLIP-seq
MIRT2251819	hsa-miR-2682	CLIP-seq
MIRT2019939	hsa-miR-3153	CLIP-seq
MIRT2251820	hsa-miR-3163	CLIP-seq
MIRT2251821	hsa-miR-3689a-5p	CLIP-seq
MIRT2251822	hsa-miR-3689b	CLIP-seq
MIRT2251823	hsa-miR-3689e	CLIP-seq
MIRT2251824	hsa-miR-3689f	CLIP-seq
MIRT2251825	hsa-miR-3945	CLIP-seq
MIRT2251826	hsa-miR-4252	CLIP-seq
MIRT2019942	hsa-miR-4497	CLIP-seq
MIRT2251827	hsa-miR-449c	CLIP-seq
MIRT2251828	hsa-miR-4761-3p	CLIP-seq
MIRT2251829	hsa-miR-4778-3p	CLIP-seq
MIRT2251830	hsa-miR-578	CLIP-seq
MIRT2251831	hsa-miR-581	CLIP-seq
MIRT2251832	hsa-miR-590-5p	CLIP-seq
MIRT2251833	hsa-miR-940	CLIP-seq
MIRT1080249	hsa-miR-579	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	TAS	1373731
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	8774427
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	1547020, 8774427
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	18818304, 26871637, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	8774427
GO:0005886	Component	Plasma membrane	IEA
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	1373731
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	TAS	1373731
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8774427
GO:0048471	Component	Perinuclear region of cytoplasm	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	IEA

MIM	HGNC	e!Ensembl
176263	6221	ENSG00000177272

P22001

Protein name

Potassium voltage-gated channel subfamily A member 3 (HGK5) (HLK3) (HPCN3) (Voltage-gated K(+) channel HuKIII) (Voltage-gated potassium channel subunit Kv1.3)

Protein function

[Isoform 1]: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel thr

PDB

4BGC , 7EJ1 , 7EJ2 , 7SSV , 7SSX , 7SSY , 7SSZ , 8DFL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	106 → 197	BTB/POZ domain	Domain
PF00520	Ion_trans	233 → 491	Ion transport protein	Family

Sequence

MDERLSLLRSPPPPSARHRAHPPQRPASSGGAHTLVNHGYAEPAAGRELPPDMTVVPGDH
LLEPEVADGGGAPPQGGCGGGGCDRYEPLPPSLPAAGEQDCCGERVVINISGLRFETQLK
TLCQFPETLLGDPKRRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRIRRPVNVPIDIF
SEEIRFYQLGEEAMEKFREDEGFLREEERPLPRRDFQRQVWLLFEYPESSGPARGIAIVS
VLVILISIVIFCLETLPEFRDEKDYPASTSQDSFEAAGNSTSGSRAGASSFSDPFFVVET
LCIIWFSFELLVRFFACPSKATFSRNIMNLIDIVAIIPYFITLGTELAERQGNGQQAMSL
AILRVIRLVRVFRIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAE
ADDPTSGFSSIPDAFWWAVVTMTTVGYGDMHPVTIGGKIVGSLCAIAGVLTIALPVPVIV
SNFNYFYHRETEGEEQSQYMHVGSCQHLSSSAEELRKARSNSTLSKSEYMVIEEGGMNHS
AFPQTPFKTGNSTATCTTNNNPNSCVNIKKIFTDV

Sequence length

575

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
KCNA3-associated developmental and epileptic encephalopathy	Likely pathogenic	rs2100949783, rs2524761170, rs2524761194, rs2524761160, rs763208216, rs2524761885, rs2524761872, rs2524761478, rs2524761374, rs2524761275, rs2524761189, rs2524760741, rs2524761198	RCV003994334 RCV003994526 RCV003994527 RCV003994528 RCV003994529 RCV003994530 RCV003994531 RCV003994532 RCV003994533 RCV003994534 RCV003994800 RCV003994801 RCV003994803
KCNA3-associated disorder	Likely pathogenic	rs2524761170	RCV003992756
Neurodevelopmental disorder	Likely pathogenic	rs2524761374	RCV004786900

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KCNA3-related disorder	Uncertain significance	rs2524761675	RCV003982753

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Stimulate	25362031
Ataxia Telangiectasia	Associate	22110135
Atherosclerosis	Associate	23099443
Autoimmune Diseases	Associate	22045429, 22110135, 24075407, 26276903, 28723914, 35358481
Autoimmune Pancreatitis	Associate	22045429
Breast Neoplasms	Associate	19712592
Carcinoma Hepatocellular	Associate	33237575
Colitis Ulcerative	Associate	24793818
Colorectal Neoplasms	Associate	28472608
Coronary Restenosis	Associate	31597447
Crohn Disease	Associate	27329601
Demyelinating Diseases	Stimulate	16043714
Diabetes Mellitus Type 1	Associate	17984097
Encephalomyelitis Autoimmune Experimental	Associate	16043714
Granulomatosis with Polyangiitis	Associate	37086441
Head and Neck Neoplasms	Associate	27815390
Hyperplasia	Associate	31597447
Hypertension	Stimulate	26502942
Hypertension	Associate	28745785, 36691302
Hypoxia	Inhibit	22134923
Idiopathic Noncirrhotic Portal Hypertension	Associate	33237575
Immune System Diseases	Associate	26616555
Immunologic Deficiency Syndromes	Associate	16147976
Inflammation	Associate	16043714, 23717641, 24793818, 26502942
Inflammation	Stimulate	36691302
Leukemia Lymphocytic Chronic B Cell	Associate	26393354
Lupus Erythematosus Systemic	Associate	17579055
Multiple Myeloma	Associate	37610069
Multiple Sclerosis	Associate	16043714
Neoplasms	Associate	19712592, 32407802
Obesity	Associate	36501016
Parathyroid Neoplasms	Associate	24681779
Periodontitis	Associate	34101221
Psoriasis	Associate	28723914
Vascular Diseases	Associate	31597447
Vascular System Injuries	Associate	28745785
Warburg Sjo Fledelius syndrome	Associate	36691302

KCNA3 (potassium voltage-gated channel subfamily A member 3)