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.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
ERG |
Unknown |
23185447 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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.
|
|
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 |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
rs199865688, rs397515994, rs757096307 |
30061737, 29892015 |
|
|
|