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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3781
Gene nameGene Name - the full gene name approved by the HGNC.
Potassium calcium-activated channel subfamily N member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KCNN2
SynonymsGene synonyms aliases
DYT34, KCa2.2, NEDMAB, SK2, SKCA2, SKCa 2, hSK2
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554086554 TAT>- Likely-pathogenic Coding sequence variant, inframe deletion, intron variant, genic upstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029340 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Transcription factor Regulation Reference
ERG Unknown 23185447
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19815520, 24951510
GO:0005516 Function Calmodulin binding IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 19815520, 27165696
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MSSCRYNGGVMRPLSNLSASRRNLHEMDSEAQPLQPPASVGGGGGASSPSAAAAAAAAVS
SSAPEIVVSKPEHNNSNNLALYGTGGGGSTGGGGGGGGSGHGSSSGTKSSKKKNQNIGYK
LGHRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGAYDKASLYSLALKCLISLSTII
LLGLIIVYHAREIQLFMVDNGADDWRIAMTYERIFFICLEILVCAIHPIPGNY
TFTWTAR
LAFSYAPSTTTADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRF
VMKTLMTICPGTVLLVFSISLWIIAAWTVRACERYHDQQDVTSNFLGAMWLISITFLSIG
YGDMVPNTYCGKGVCLLTGIMGAGCTALVVAVVARKLE
LTKAEKHVHNFMMDTQLTKRVK
NAAANVLRETWLIYKNTKLVKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLNDQANTLV
DLAKTQ
NIMYDMISDLNERSEDFEKRIVTLETKLETLIGSIHALPGLISQTIRQQQRDFI
EAQMESYDKHVTYNAERSRSSSRRRRSSSTAPPTSSESS
Sequence length 579
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Serotonergic synapse
Insulin secretion
GnRH secretion
Bile secretion
  Ca2+ activated K+ channels
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 26830138
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 30061737, 28416818, 29892015
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 31374203
Unknown
Disease name Disease term dbSNP ID References
Coronary aneurysm Coronary Aneurysm 23677057
Kawasaki disease Mucocutaneous Lymph Node Syndrome 23677057
Liver carcinoma Liver carcinoma 28284560
Movement disorders Movement Disorders 10200319, 21942705, 15194823, 11181977, 27048600, 21923633, 15184377, 19515965, 26166566, 22495311, 24434522, 22072564, 17329434, 18604572, 19075508, 15190101, 23430260, 15937479, 25917818, 15234350, 20553876

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