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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3783
Gene name	Potassium calcium-activated channel subfamily N member 4
Gene symbol	KCNN4
Synonyms (NCBI Gene)	DHS2IKIK1IKCA1KCA4KCa3.1SK4SKCa4hIK1hIKCa1hKCa4hSK4
Chromosome	19
Chromosome location	19q13.31
Summary	The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded p

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774455945	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519076	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519077	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001448	hsa-miR-16-5p	pSILAC	18668040
MIRT019994	hsa-miR-375	Microarray	20215506
MIRT024000	hsa-miR-1-3p	Proteomics	18668040
MIRT028637	hsa-miR-30a-5p	Proteomics	18668040
MIRT001448	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT731965	hsa-miR-497-5p	Luciferase reporter assayqRT-PCRWestern blot	27531900
MIRT731965	hsa-miR-497-5p	Luciferase reporter assayqRT-PCRWestern blot	27531900
MIRT1082200	hsa-miR-103a	CLIP-seq
MIRT1082201	hsa-miR-107	CLIP-seq
MIRT1082202	hsa-miR-15a	CLIP-seq
MIRT1082203	hsa-miR-15b	CLIP-seq
MIRT1082204	hsa-miR-16	CLIP-seq
MIRT1082205	hsa-miR-195	CLIP-seq
MIRT1082206	hsa-miR-3135b	CLIP-seq
MIRT1082207	hsa-miR-3174	CLIP-seq
MIRT1082208	hsa-miR-338-3p	CLIP-seq
MIRT1082209	hsa-miR-3689d	CLIP-seq
MIRT1082210	hsa-miR-424	CLIP-seq
MIRT1082211	hsa-miR-4487	CLIP-seq
MIRT1082212	hsa-miR-4524	CLIP-seq
MIRT1082213	hsa-miR-4530	CLIP-seq
MIRT1082214	hsa-miR-4693-3p	CLIP-seq
MIRT1082215	hsa-miR-4786-3p	CLIP-seq
MIRT1082216	hsa-miR-497	CLIP-seq
MIRT1082217	hsa-miR-503	CLIP-seq
MIRT1082218	hsa-miR-545	CLIP-seq
MIRT1082219	hsa-miR-646	CLIP-seq
MIRT1082220	hsa-miR-766	CLIP-seq
MIRT1082221	hsa-miR-921	CLIP-seq
MIRT2020478	hsa-miR-1224-3p	CLIP-seq
MIRT2020479	hsa-miR-125a-3p	CLIP-seq
MIRT2020480	hsa-miR-1260	CLIP-seq
MIRT2020481	hsa-miR-1260b	CLIP-seq
MIRT2020482	hsa-miR-1280	CLIP-seq
MIRT2020483	hsa-miR-188-3p	CLIP-seq
MIRT2020484	hsa-miR-1912	CLIP-seq
MIRT2020485	hsa-miR-3130-5p	CLIP-seq
MIRT2020486	hsa-miR-3156-3p	CLIP-seq
MIRT2020487	hsa-miR-3677-3p	CLIP-seq
MIRT2020488	hsa-miR-3934	CLIP-seq
MIRT2020489	hsa-miR-4277	CLIP-seq
MIRT2020490	hsa-miR-4293	CLIP-seq
MIRT2020491	hsa-miR-4326	CLIP-seq
MIRT2020492	hsa-miR-4482	CLIP-seq
MIRT2020493	hsa-miR-4691-5p	CLIP-seq
MIRT2020494	hsa-miR-562	CLIP-seq
MIRT2020495	hsa-miR-596	CLIP-seq
MIRT2020496	hsa-miR-764	CLIP-seq
MIRT1082200	hsa-miR-103a	CLIP-seq
MIRT1082201	hsa-miR-107	CLIP-seq
MIRT1082202	hsa-miR-15a	CLIP-seq
MIRT1082203	hsa-miR-15b	CLIP-seq
MIRT1082204	hsa-miR-16	CLIP-seq
MIRT1082205	hsa-miR-195	CLIP-seq
MIRT1082206	hsa-miR-3135b	CLIP-seq
MIRT1082207	hsa-miR-3174	CLIP-seq
MIRT2252201	hsa-miR-3659	CLIP-seq
MIRT1082209	hsa-miR-3689d	CLIP-seq
MIRT1082210	hsa-miR-424	CLIP-seq
MIRT1082211	hsa-miR-4487	CLIP-seq
MIRT1082212	hsa-miR-4524	CLIP-seq
MIRT1082214	hsa-miR-4693-3p	CLIP-seq
MIRT1082216	hsa-miR-497	CLIP-seq
MIRT1082217	hsa-miR-503	CLIP-seq
MIRT1082219	hsa-miR-646	CLIP-seq
MIRT1082221	hsa-miR-921	CLIP-seq
MIRT2389671	hsa-miR-2467-3p	CLIP-seq
MIRT2389672	hsa-miR-3678-3p	CLIP-seq
MIRT2389673	hsa-miR-4447	CLIP-seq
MIRT2389674	hsa-miR-4472	CLIP-seq
MIRT2389675	hsa-miR-4481	CLIP-seq
MIRT2389676	hsa-miR-4745-5p	CLIP-seq
MIRT2389677	hsa-miR-591	CLIP-seq
MIRT2389678	hsa-miR-759	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
REST	Repression	16209944

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	12198491, 18796614, 27092946, 32296183
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	29724949
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15831468, 24591580, 26148990
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	9380751
GO:0006816	Process	Calcium ion transport	IDA	18796614
GO:0006884	Process	Cell volume homeostasis	IEA
GO:0006952	Process	Defense response	TAS	9407042
GO:0008076	Component	Voltage-gated potassium channel complex	IC	18796614
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9380751
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	18796614, 26148990
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0015269	Function	Calcium-activated potassium channel activity	TAS	9380751
GO:0016020	Component	Membrane	IEA
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	18796614
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IBA
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IDA	9326665, 9380751, 9407042, 10026195, 10961988, 11425865, 15831468, 17157250, 18796614, 26148990, 26418693
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IEA
GO:0030322	Process	Stabilization of membrane potential	IDA	18796614
GO:0031982	Component	Vesicle	IDA	25468996
GO:0032587	Component	Ruffle membrane	IDA	24591580
GO:0032587	Component	Ruffle membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	29953543
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	IBA
GO:0044351	Process	Macropinocytosis	IDA	24591580
GO:0045332	Process	Phospholipid translocation	IEA
GO:0046541	Process	Saliva secretion	IEA
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IDA	18796614
GO:0051049	Process	Regulation of transport	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29724949
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9326665, 9380751, 9407042, 10026195, 10961988, 11425865, 15831468, 17157250, 18796614, 26148990, 26418693
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	TAS
GO:1905664	Process	Regulation of calcium ion import across plasma membrane	IDA	17157250, 18796614, 26418693

MIM	HGNC	e!Ensembl
602754	6293	ENSG00000104783

O15554

Protein name

Intermediate conductance calcium-activated potassium channel protein 4 (SKCa 4) (SKCa4) (hSK4) (Gardos channel) (IKCa1) (hIK1) (KCa3.1) (Putative Gardos channel) (hKCa4)

Protein function

Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calc

PDB

6CNM , 6CNN , 6CNO , 6D42

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03530	SK_channel	11 → 124	Calcium-activated SK potassium channel	Family
PF07885	Ion_trans_2	211 → 291	Ion channel	Family
PF02888	CaMBD	304 → 375	Calmodulin binding domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in non-excitable tissues. {ECO:0000269|PubMed:9380751}.

Sequence

MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFL
VKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPA
PVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYR
SIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDT
LWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHN
FMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRK
LREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLP
EPSQQSK

Sequence length

427

Interactions

View interactions

	KEGG		Reactome
	Insulin secretion GnRH secretion Salivary secretion Protein digestion and absorption		Ca2+ activated K+ channels

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dehydrated hereditary stomatocytosis 2	Pathogenic; Likely pathogenic	rs774455945, rs1057519076, rs1057519077	RCV000412510 RCV000412590 RCV000412652
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Pathogenic	rs1969582489	RCV001352675

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KCNN4-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs77115443, rs76935412, rs201257292, rs144902329, rs1389720019, rs559217599, rs139516899, rs1466617448, rs765201239, rs775470701, rs200169896, rs557803591, rs574008067	RCV003893078 RCV003916543 RCV003946444 RCV003399755 RCV003984373 RCV003894591 RCV003894261 RCV003959822 RCV003934375 RCV003959136 RCV003952258 RCV003975764 RCV003906052
Primary ciliary dyskinesia 5	Conflicting classifications of pathogenicity	rs76935412	RCV005863744

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Oxyphilic	Associate	25848765
Alzheimer Disease	Associate	35931864
Androgen Insensitivity Syndrome	Associate	23904164
Anemia Hemolytic Congenital	Associate	28496185
Aneurysm Ruptured	Stimulate	40500739
Asthma	Associate	23904164
Atherosclerosis	Associate	23609438, 28126850
Breast Neoplasms	Associate	27124117, 27183905, 28216417, 34946556, 40513964
Breast Neoplasms	Inhibit	39614330
Carcinogenesis	Associate	23609438
Carcinoma Hepatocellular	Associate	35718101
Carcinoma Non Small Cell Lung	Associate	34526525, 36152073
Carcinoma Pancreatic Ductal	Associate	27494181
Carcinoma Pancreatic Ductal	Stimulate	35068444
Carcinoma Renal Cell	Associate	25848765, 28975890, 35983409
Cerebrovascular Disorders	Associate	27716384
Channelopathies	Associate	28496185, 35030515
Cirrhosis Familial	Stimulate	31197180
Colorectal Neoplasms	Associate	24885636, 37328854
Common Variable Immunodeficiency	Associate	26081581
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	28126850
Conjunctival Diseases	Associate	29242028
Crohn Disease	Associate	27329601
Cystic Fibrosis	Associate	21909392
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	26198474, 28496185, 30187933, 30655378, 31091145, 35030515
Dehydration	Associate	31091145
Drug Related Side Effects and Adverse Reactions	Associate	37075611
Edema	Associate	27487831
Esophageal Squamous Cell Carcinoma	Associate	36072903
Fibrosis	Inhibit	29242028
Glioma	Associate	20808839
Glycogen Storage Disease Type IV	Associate	19570891
Heparin Cofactor II Deficiency	Associate	29242028
Hypertension	Associate	26502942
Hypertension	Stimulate	29388859
Hypoxia	Associate	34526525
Idiopathic Pulmonary Fibrosis	Associate	21872912, 24392001, 25476248, 29321510
Inflammation	Associate	23609438, 23904164, 24793818, 26502942
Intracranial Hypertension	Associate	27487831
Lung Diseases	Associate	25476248, 29321510
Lymphoma Follicular	Associate	31197180
Melanoma	Associate	34445066
Neoplasm Metastasis	Associate	35955737
Neoplasms	Associate	25848765, 27124117, 27716384, 28659615, 29692361, 32857728, 35955737
Neoplastic Syndromes Hereditary	Associate	30187933
Ovarian Neoplasms	Associate	27270322, 28659615
Pancreatic Neoplasms	Associate	28611293
Prader Willi Syndrome	Associate	16116039
Sjogren's Syndrome	Associate	27346388
Soft Tissue Injuries	Associate	39366520
Squamous Cell Carcinoma of Head and Neck	Associate	29692361
Status Asthmaticus	Associate	21872912, 23904164
Status Asthmaticus	Stimulate	26689552
Stroke	Associate	28126850
Subarachnoid Hemorrhage	Associate	40500739
Thyroid Cancer Papillary	Stimulate	32857728
Triple Negative Breast Neoplasms	Associate	27124117
Uterine Cervical Neoplasms	Associate	28280257
Vascular Malformations	Associate	27716384
Venous Thromboembolism	Associate	40513964

KCNN4 (potassium calcium-activated channel subfamily N member 4)