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	3741
Gene name	Potassium voltage-gated channel subfamily A member 5
Gene symbol	KCNA5
Synonyms (NCBI Gene)	ATFB7HCK1HK2HPCN1KV1.5PCN1
Chromosome	12
Chromosome location	12p13.32
Summary	Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77281462	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121908590	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121908592	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908593	G>A	Pathogenic	Coding sequence variant, missense variant
rs148708451	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199794307	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs202117321	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777336	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030147	hsa-miR-26b-5p	Microarray	19088304
MIRT491244	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT491243	hsa-miR-1321	PAR-CLIP	23592263
MIRT491242	hsa-miR-4739	PAR-CLIP	23592263
MIRT491241	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT491240	hsa-miR-5681a	PAR-CLIP	23592263
MIRT491238	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT491239	hsa-miR-4419a	PAR-CLIP	23592263
MIRT491237	hsa-miR-4510	PAR-CLIP	23592263
MIRT491236	hsa-miR-6127	PAR-CLIP	23592263
MIRT491235	hsa-miR-6129	PAR-CLIP	23592263
MIRT491234	hsa-miR-6130	PAR-CLIP	23592263
MIRT491233	hsa-miR-6133	PAR-CLIP	23592263
MIRT491232	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT491231	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491230	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491229	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT491228	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491227	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT491226	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT491224	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT491225	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT732591	hsa-miR-3188	Luciferase reporter assayqRT-PCRWestern blotting	33533580
MIRT491244	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT491243	hsa-miR-1321	PAR-CLIP	23592263
MIRT491242	hsa-miR-4739	PAR-CLIP	23592263
MIRT491241	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT491240	hsa-miR-5681a	PAR-CLIP	23592263
MIRT491238	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT491239	hsa-miR-4419a	PAR-CLIP	23592263
MIRT491237	hsa-miR-4510	PAR-CLIP	23592263
MIRT491236	hsa-miR-6127	PAR-CLIP	23592263
MIRT491235	hsa-miR-6129	PAR-CLIP	23592263
MIRT491234	hsa-miR-6130	PAR-CLIP	23592263
MIRT491233	hsa-miR-6133	PAR-CLIP	23592263
MIRT491232	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT491231	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491230	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491229	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT491228	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491227	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT491226	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT491224	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT491225	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT1080253	hsa-miR-361-5p	CLIP-seq
MIRT1080254	hsa-miR-548c-3p	CLIP-seq
MIRT1080255	hsa-miR-548u	CLIP-seq
MIRT2019946	hsa-miR-4659a-3p	CLIP-seq
MIRT2019947	hsa-miR-4659b-3p	CLIP-seq

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001666	Process	Response to hypoxia	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	8505626, 11524461, 18281375
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	17267549, 20018952, 36917789
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	1986382, 12130714
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IMP	19343045
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10812072, 11389904, 24550280, 32296183
GO:0005794	Component	Golgi apparatus	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	7615797, 12130714
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	20018952
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	TAS	17060380
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	8576199
GO:0006813	Process	Potassium ion transport	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	1986382, 23264583
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009986	Component	Cell surface	IDA	23264583
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IDA	7615797
GO:0014704	Component	Intercalated disc	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	12970345
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IMP	16236819
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019901	Function	Protein kinase binding	IPI	8953041
GO:0030018	Component	Z disc	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	IDA	12130714
GO:0034705	Component	Potassium channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	1986382
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0045121	Component	Membrane raft	IDA	18218624
GO:0046691	Component	Intracellular canaliculus	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS	1986382
GO:0051259	Process	Protein complex oligomerization	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	10812072
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060081	Process	Membrane hyperpolarization	IMP	16236819
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	19343045
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	12130714, 18281375
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	12021261
GO:0086014	Process	Atrial cardiac muscle cell action potential	IDA	18281375
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	19343045, 23264583
GO:0086050	Process	Membrane repolarization during bundle of His cell action potential	IMP	23264583
GO:0086052	Process	Membrane repolarization during SA node cell action potential	IMP	19343045
GO:0086052	Process	Membrane repolarization during SA node cell action potential	TAS	10820151
GO:0086087	Function	Voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization	IMP	23264583
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	19343045, 23264583
GO:0086090	Function	Voltage-gated potassium channel activity involved in SA node cell action potential repolarization	IMP	19343045, 23264583
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	19343045, 23264583
GO:0097110	Function	Scaffold protein binding	IPI	12970345, 18281375
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	1986382, 12970345
GO:0097623	Process	Potassium ion export across plasma membrane	IEA
GO:0097623	Process	Potassium ion export across plasma membrane	IMP	16236819
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	19343045, 23264583
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA

MIM	HGNC	e!Ensembl
176267	6224	ENSG00000130037

P22460

Protein name

Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5)

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
PF02214	BTB_2	122 → 213	BTB/POZ domain	Domain
PF00520	Ion_trans	249 → 527	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Pancreatic islets and insulinoma.

Sequence

MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDA
DSGVRPLPPLPDPGVRPLPPLPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQ
RVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLRNEYFFDRNRPSFDGILYYYQ
SGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANG
SGVMAPPSGPTVAPLLPRTLADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNII
DVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILRVIRLVRVFRIFKLSRHSKGL
QILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQG
TQSQGPGLDRGVQRKVSGSRGSFCKAGGTLENADSARRGSCPLEKCNVKAKSNVDLRRSL
YALCLDTSRETDL

Sequence length

613

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

466

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation, familial, 7	Pathogenic	rs587777336, rs121908590, rs121908593	RCV000114991 RCV000014411 RCV000014414

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
altered potassium channel function	Conflicting classifications of pathogenicity	rs17215409	RCV000171656
Brugada syndrome 1	Conflicting classifications of pathogenicity	rs12720445	RCV000584775
Cardiac arrhythmia	Uncertain significance	rs1486417435, rs748629738	RCV001841809 RCV006255179
Familial atrial fibrillation	Likely benign	rs4625555	RCV000393478
Heart disease	Uncertain significance	rs71581017	RCV000414965
KCNA5-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1862773506, rs145163163, rs35853292, rs77281462, rs17215409, rs17215402, rs1292147729, rs773608258, rs201238766, rs12720444, rs775088698, rs907032325	RCV003983874 RCV003416267 RCV003954995 RCV004745250 RCV003907539 RCV003917589 RCV003963363 RCV003427751 RCV003925669 RCV003925668 RCV003905747 RCV004723620
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs17215409, rs61737395, rs202083721, rs139805781, rs1565465582	RCV002285149 RCV002285157 RCV002285161 RCV002285167 RCV002285171
Pulmonary hypertension, primary, 1	Conflicting classifications of pathogenicity	rs35853292	RCV000171651
Third degree atrioventricular block	Uncertain significance	rs1439658302	RCV002305648

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	32472752, 37779040
Atrial Fibrillation	Associate	18209767, 18452873, 20638934, 21924735, 22818067, 23717641, 25700171, 25918274, 28622331, 28803858, 29034891, 36740150, 37779040
Atrial Fibrillation	Inhibit	21179275
Atrial Flutter	Associate	18818480
Atrial Remodeling	Associate	28622331
Carcinogenesis	Associate	26573141
Carcinoma Hepatocellular	Associate	37147523
Colorectal Neoplasms	Associate	30987631, 33267786
Coronary Artery Disease	Associate	27872049
Coronary Restenosis	Associate	31597447
COVID 19	Associate	36104591
Death	Associate	25435365
Drug Resistant Epilepsy	Associate	28388656
Endometrial Neoplasms	Associate	18423823
Heart Valve Diseases	Associate	21179275
Hyperplasia	Associate	31597447
Hypoxia	Inhibit	23270786
Hypoxia	Stimulate	25435365
Inflammation	Associate	31650199, 33267786
Inflammatory Bowel Diseases	Associate	33588072
Leukemia Myeloid Acute	Associate	31650199
Mental Disorders	Associate	33588072
Neoplasms	Associate	16258262, 25435365, 26573141, 33267786
Neoplasms	Stimulate	26569226
Osteosarcoma	Associate	26569226
Pelvic Organ Prolapse	Associate	27818488
Persistent Fetal Circulation Syndrome	Associate	31382961
Polycystic Ovary Syndrome	Associate	33533580
Pulmonary Arterial Hypertension	Associate	20556823, 24936649, 34199176, 35346192, 36740150
Pulmonary Arterial Hypertension	Inhibit	27811062
Rheumatic Heart Disease	Associate	25918274
Sarcoma Ewing	Associate	26573141
Scleroderma Systemic	Associate	20556823, 34199176
Sleep Apnea Obstructive	Associate	27543307
Stomach Neoplasms	Associate	16258262, 33267786
Tobacco Use Disorder	Associate	36104591
Vascular Diseases	Associate	34199176

KCNA5 (potassium voltage-gated channel subfamily A member 5)