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	3737
Gene name	Potassium voltage-gated channel subfamily A member 2
Gene symbol	KCNA2
Synonyms (NCBI Gene)	DEE32EIEE32HBK5HK4HUKIVKV1.2MK2NGK1RBK2
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 (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200499541	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371979518	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs763353895	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs786205231	A>G	Pathogenic	Missense variant, coding sequence variant
rs786205232	C>T	Pathogenic	Missense variant, coding sequence variant
rs876657390	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041761	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1057523703	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064794738	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064796294	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1085307768	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691939	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691974	G>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553181280	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181282	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181301	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181323	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1557731896	G>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1570752696	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1570753525	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT736888	hsa-miR-137	Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCR	32621322
MIRT1080220	hsa-miR-125a-3p	CLIP-seq
MIRT1080221	hsa-miR-3138	CLIP-seq
MIRT1080222	hsa-miR-383	CLIP-seq
MIRT1080223	hsa-miR-3934	CLIP-seq
MIRT1080224	hsa-miR-4520a-3p	CLIP-seq
MIRT1080225	hsa-miR-4699-3p	CLIP-seq
MIRT1080226	hsa-miR-4742-5p	CLIP-seq
MIRT1080227	hsa-miR-4772-5p	CLIP-seq
MIRT1080228	hsa-miR-520d-5p	CLIP-seq
MIRT1080229	hsa-miR-524-5p	CLIP-seq
MIRT1080230	hsa-miR-548u	CLIP-seq
MIRT1080231	hsa-miR-581	CLIP-seq
MIRT1080232	hsa-miR-592	CLIP-seq
MIRT1080233	hsa-miR-597	CLIP-seq
MIRT1080234	hsa-miR-599	CLIP-seq
MIRT1080235	hsa-miR-764	CLIP-seq
MIRT1080220	hsa-miR-125a-3p	CLIP-seq
MIRT2019937	hsa-miR-3151	CLIP-seq
MIRT1080222	hsa-miR-383	CLIP-seq
MIRT1080223	hsa-miR-3934	CLIP-seq
MIRT1080226	hsa-miR-4742-5p	CLIP-seq
MIRT1080227	hsa-miR-4772-5p	CLIP-seq
MIRT1080235	hsa-miR-764	CLIP-seq

Show/Hide all (84)

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	11211111, 20220134, 23769686
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	19912772, 32833227, 35439054, 37883018
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
GO:0005249	Function	Voltage-gated potassium channel activity	TAS	2251283
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	ISS
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	1715584
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS	2722779
GO:0005515	Function	Protein binding	IPI	21357749, 25416956, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	19912772, 32833227, 35439054, 37883018
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	2251283
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11086297
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	2251283
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019228	Process	Neuronal action potential	ISS
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	ISS
GO:0019894	Function	Kinesin binding	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021633	Process	Optic nerve structural organization	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043679	Component	Axon terminus	IBA
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0044224	Component	Juxtaparanode region of axon	IBA
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0045188	Process	Regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19912772
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
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
GO:1905030	Function	Voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
176262	6220	ENSG00000177301

P16389

Protein name

Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2)

Protein function

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and r

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	35 → 126	BTB/POZ domain	Domain
PF00520	Ion_trans	162 → 421	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain cortex (PubMed:16473933). Detected in peroneal nerve in the juxtaparanodal regions of the node of Ranvier; expression is decreased in patients with diabetes mellitus that suffer from axonal neuropathy (PubMed:22649228

Sequence

MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLG
DPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGE
EAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSGPARIIAIVSVMVILISIVSF
CLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVR
VFRIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEADERESQFPS
IPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRE
TEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV

Sequence length

499

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

418

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886041761	RCV005250046
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs764822052, rs786205232	RCV001527627 RCV001252020
Developmental and epileptic encephalopathy, 32	Pathogenic; Likely pathogenic	rs2101396301, rs2101396443, rs2101398595, rs2101399429, rs2101403658, rs2524620540, rs2524618913, rs2524618796, rs2524616704, rs876657389, rs786205231, rs876657390, rs786205232, rs2524619990, rs2524623169 View all (20 more)	RCV001379013 RCV001379814 RCV001376941 RCV001382055 RCV001775358 RCV002291488 RCV002300392 RCV002466340 RCV002466341 RCV000170511 RCV000170512 RCV000170513 RCV000170514 RCV003079008 RCV002839503 RCV003005994 RCV003031815 RCV003054346 RCV003129596 RCV000706154 RCV003589431 RCV003590168 RCV003590257 RCV003754313 RCV003754351 RCV003984920 RCV001233488 RCV000723323 RCV000986393 RCV000585826 RCV000653137 RCV000653131 RCV000677419 RCV001217681 RCV000824855 RCV001058042 RCV001250736 RCV001252957 RCV001382054 RCV001295048
Global developmental delay	Likely pathogenic	rs1342073847	RCV002463862
Intellectual disability	Pathogenic	rs1570753525	RCV001007896
KCN2A-related disorder	Pathogenic	rs1064794738	RCV001824800
KCNA2-related disorder	Likely pathogenic; Pathogenic	rs886041761	RCV005869203
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2101398625, rs786205232	RCV001780064 RCV001374910
Seizure	Likely pathogenic; Pathogenic	rs876657389, rs1553181370, rs1064796294, rs1570753525	RCV004546448 RCV004579659 RCV004546507 RCV001007896

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Conflicting classifications of pathogenicity	rs770338663	RCV003126257
Clear cell carcinoma of kidney	Benign; Likely benign	rs115456625	RCV005901135
See cases	Conflicting classifications of pathogenicity	rs2101398407	RCV002252701

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Febrile Encephalopathy	Associate	25751627
Ataxia	Associate	25751627
Brain Diseases	Associate	25751627, 26648591, 28806589, 32540721, 33232902, 34576077
Cerebellar Ataxia	Associate	34576077
Cerebellar Diseases	Associate	33802230
COVID 19	Associate	36104591
Dermatitis Exfoliative	Associate	25950944
Developmental Disabilities	Associate	25751627, 37883018
Ductus Arteriosus Patent	Associate	33837257
Epilepsy	Associate	28806589, 32833227, 33232902, 33802230, 34576077, 35439054, 37883018
Epileptic Encephalopathy Early Infantile 3	Associate	30292882, 31075689, 32540721, 33802230
Episodic Ataxia	Associate	33802230
Focal Infection	Associate	28806589
Growth Disorders	Associate	33802230
Heredodegenerative Disorders Nervous System	Associate	37883018
Intellectual Disability	Associate	25751627, 33802230, 34576077
Mental Disorders	Associate	25950944
Movement Disorders	Associate	33802230
Myoclonus	Associate	28806589
Nervous System Diseases	Associate	32833227
Neurologic Manifestations	Associate	32540721, 33802230
Periodontitis	Associate	34101221
Seizures	Associate	25751627, 28806589, 33802230
Spastic Paraplegia Hereditary	Associate	33802230, 40414079
Spinocerebellar Degenerations	Associate	34576077
Status Epilepticus	Associate	28806589, 33232902
Vaginal Discharge	Associate	25751627

KCNA2 (potassium voltage-gated channel subfamily A member 2)