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

Gene

• Entrez ID: 3738
• Gene name: Potassium voltage-gated channel subfamily A member 3
• Gene symbol: KCNA3
• Synonyms (NCBI Gene): HGK5, HLK3, HPCN3, HUKIII, KV1.3, MK3, PCN3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 176263
• HGNC: 6221
• e!Ensembl: ENSG00000177272

Protein

• UniProt ID: 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

Pathways

Reactome:

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNA3-associated disorder	Likely pathogenic	rs2524761170	RCV003992756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2524761374	RCV004786900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNA3-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	22045429		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25362031	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22110135	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23099443	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	17878353		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22045429		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22045429, 22110135, 24075407, 26276903, 28723914, 35358481	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Pancreatitis	Autoimmune pancreatitis	Pubtator	22045429	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19712592	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33237575	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24793818	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30099342		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28472608	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	31597447	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27329601	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	16043714	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17984097	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22343408		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12850541		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	37086441	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27815390	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	31597447	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26502942	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28745785, 36691302	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22134923	Inhibit	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	26616555	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17579055	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17579055		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30099342		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12604782		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37610069	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16043714, 17878353		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16043714	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22192927, 30099342		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36501016	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	24681779		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	24681779	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	28723914	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31597447	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	28745785	Associate	★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	36691302	Associate	★☆☆☆☆ Found in Text Mining only