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	3781
Gene name	Potassium calcium-activated channel subfamily N member 2
Gene symbol	KCNN2
Synonyms (NCBI Gene)	DYT34KCa2.2NEDMABSK2SKCA2SKCa 2hSK2
Chromosome	5
Chromosome location	5q22.3
Summary	Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1554086554	TAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029340	hsa-miR-26b-5p	Microarray	19088304

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Transcription factor	Regulation	Reference
ERG	Unknown	23185447

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	12382077
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	19815520, 24951510
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19815520, 27165696
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	NAS	10991935
GO:0006813	Process	Potassium ion transport	TAS	9287325, 10991935, 13679367, 33242881
GO:0009986	Component	Cell surface	IDA	19815520
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	17110593
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10991935
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IBA
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IDA	9287325, 10991935, 12382077, 13679367, 24951510, 33242881
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IEA
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IMP	19815520
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	ISS	19139040
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	TAS	10991935
GO:0019904	Function	Protein domain specific binding	IPI	19815520
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS	24951510
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	17110593
GO:0043025	Component	Neuronal cell body	IBA
GO:0043197	Component	Dendritic spine	IBA
GO:0051393	Function	Alpha-actinin binding	IPI	17110593
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	12382077, 17110593, 24951510
GO:0071805	Process	Potassium ion transmembrane transport	ISS	19139040
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	ISS	19139040
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	17110593

MIM	HGNC	e!Ensembl
605879	6291	ENSG00000080709

Q9H2S1

Protein name

Small conductance calcium-activated potassium channel protein 2 (SK2) (SKCa 2) (SKCa2) (KCa2.2)

Protein function

Small 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 calcium all

PDB

5V02 , 5WBX , 5WC5 , 6ALE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03530	SK_channel	120 → 233	Calcium-activated SK potassium channel	Family
PF07885	Ion_trans_2	304 → 398	Ion channel	Family
PF02888	CaMBD	412 → 486	Calmodulin binding domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in atrial myocytes (at protein level) (PubMed:13679367). Widely expressed. {ECO:0000269|PubMed:13679367}.

Sequence

MSSCRYNGGVMRPLSNLSASRRNLHEMDSEAQPLQPPASVGGGGGASSPSAAAAAAAAVS
SSAPEIVVSKPEHNNSNNLALYGTGGGGSTGGGGGGGGSGHGSSSGTKSSKKKNQNIGYK
LGHRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGAYDKASLYSLALKCLISLSTII
LLGLIIVYHAREIQLFMVDNGADDWRIAMTYERIFFICLEILVCAIHPIPGNYTFTWTAR
LAFSYAPSTTTADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRF
VMKTLMTICPGTVLLVFSISLWIIAAWTVRACERYHDQQDVTSNFLGAMWLISITFLSIG
YGDMVPNTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMDTQLTKRVK
NAAANVLRETWLIYKNTKLVKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLNDQANTLV
DLAKTQNIMYDMISDLNERSEDFEKRIVTLETKLETLIGSIHALPGLISQTIRQQQRDFI
EAQMESYDKHVTYNAERSRSSSRRRRSSSTAPPTSSESS

Sequence length

579

Interactions

View interactions

	KEGG		Reactome
	Serotonergic synapse Insulin secretion GnRH secretion Bile secretion		Ca2+ activated K+ channels

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autistic behavior	Pathogenic; Likely pathogenic	rs774833524, rs1758880343, rs1761282515, rs1761282724, rs1761822790, rs1761825165	RCV001201168 RCV001201169 RCV001201172 RCV001201173 RCV001201174 RCV001201175
Cerebellar ataxia	Pathogenic; Likely pathogenic	rs1758879579, rs1761282515, rs1747594790	RCV001201167 RCV001201172 RCV001201176
Dyskinesia	Pathogenic	rs1747594790	RCV001201176
Dystonia 34, myoclonic	Pathogenic	rs2531643196	RCV004006243
Global developmental delay	Likely pathogenic; Pathogenic	rs1554086554, rs774833524, rs1758879579, rs1758880343, rs1761282515, rs1761282724, rs1761822790, rs1747594790, rs1761825165	RCV001201170 RCV001201168 RCV001201167 RCV001201169 RCV001201172 RCV001201173 RCV001201174 RCV001201176 RCV001201175
Intellectual disability	Likely pathogenic	rs1758880343, rs1761282515	RCV001201169 RCV001201172
KCNN2-related disorder	Likely pathogenic; Pathogenic	rs1554086554	RCV003424193
Mild intellectual disability	Pathogenic; Likely pathogenic	rs1758879579, rs1761282724, rs1747594790	RCV001201167 RCV001201173 RCV001201176
Moderate intellectual disability	Pathogenic; Likely pathogenic	rs1761822790, rs1761825165	RCV001201174 RCV001201175
Motor tics	Pathogenic; Likely pathogenic	rs774833524, rs1758880343	RCV001201168 RCV001201169
Neurodevelopmental disorder	Likely pathogenic	rs2150115220	RCV002273226
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	Likely pathogenic; Pathogenic	rs2531615369, rs2531643196, rs1554086554, rs774833524, rs1758880343, rs1761282515, rs1747594790, rs1761825165	RCV003223507 RCV004006243 RCV005626121 RCV001822865 RCV001822866 RCV003224884 RCV001822867 RCV003151833
Seizure	Likely pathogenic; Pathogenic	rs1761282724, rs1761825165	RCV001201173 RCV001201175
Severe intellectual disability	Pathogenic	rs774833524	RCV001201168

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bradykinesia	Conflicting classifications of pathogenicity	rs1761282406	RCV001201171
KCNN2-related Neurodevelopmental movement disorder	Uncertain significance	rs139630306	RCV001839339

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrial Fibrillation	Associate	27442679, 29545482
Cognition Disorders	Associate	37510285
Death Sudden Cardiac	Associate	27442679
Dystonia	Associate	35106185
Essential Tremor	Associate	37510285
Glioma	Associate	16817201
Hallucinations	Associate	37510285
Heart Diseases	Associate	27442679
Movement Disorders	Associate	35106185
Myoclonic dystonia	Associate	35106185
Neoplasms	Associate	16817201
Prostatitis	Associate	23185447
Sarcoma	Associate	34294833
Tremor	Associate	37510285
Ventricular Fibrillation	Associate	27442679

KCNN2 (potassium calcium-activated channel subfamily N member 2)