KCNN2
entrez
3781
canonical
uniprot
Q9H2S1
canonical
ensembl
ENSG00000080709
resolver
ensp
ENSP00000421439
resolver
ensp
ENSP00000427120
resolver
ensp
ENSP00000501239
resolver
enst
ENST00000512097
resolver
genesymbol
KCNN2
resolver
hgnc
HGNC:6291
resolver
uniprot
A0A3F2YNY5
resolver
uniprot
A6NF94
resolver
uniprot
Q0VFZ4
resolver
uniprot
Q6PJI0
resolver
uniprot
Q6X2Y2
resolver
uniprot_entry
A0A3F2YNY5_HUMAN
resolver
uniprot_entry
KCNN2_HUMAN
resolver
uniprot_sec
A6NF94
resolver
uniprot_sec
Q0VFZ4
resolver
uniprot_sec
Q6PJI0
resolver
uniprot_sec
Q6X2Y2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by bee venom neurotoxin apamin (PubMed:10991935, PubMed:9287325). Inhibited by UCL 1684 and tetraethylammonium (TEA) (By similarity). {ECO:0000250|UniProtKB:P70604, ECO:0000269|PubMed:10991935, ECO:0000269|PubMed:9287325}.
uniprot
proteins
amino_acid_sequence
MSSCRYNGGVMRPLSNLSASRRNLHEMDSEAQPLQPPASVGGGGGASSPSAAAAAAAAVSSSAPEIVVSKPEHNNSNNLALYGTGGGGSTGGGGGGGGSGHGSSSGTKSSKKKNQNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVIETELSWGAYDKASLYSLALKCLISLSTIILLGLIIVYHAREIQLFMVDNGADDWRIAMTYERIFFICLEILVCAIHPIPGNYTFTWTARLAFSYAPSTTTADVDIILSIPMFLRLYLIARVMLLHSKLFTDASSRSIGALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRACERYHDQQDVTSNFLGAMWLISITFLSIGYGDMVPNTYCGKGVCLLTGIMGAGCTALVVAVVARKLELTKAEKHVHNFMMDTQLTKRVKNAAANVLRETWLIYKNTKLVKKIDHAKVRKHQRKFLQAIHQLRSVKMEQRKLNDQANTLVDLAKTQNIMYDMISDLNERSEDFEKRIVTLETKLETLIGSIHALPGLISQTIRQQQRDFIEAQMESYDKHVTYNAERSRSSSRRRRSSSTAPPTSSESS
uniprot
proteins
disease_involvement
DISEASE: Dystonia 34, myoclonic (DYT34) [MIM:619724]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. {ECO:0000269|PubMed:32212350}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725]: An autosomal dominant disorder characterized by motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Other variable features include autism spectrum disorder or autistic features and epilepsy. {ECO:0000269|PubMed:33242881}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 allowing its opening (PubMed:10991935, PubMed:33242881, PubMed:9287325). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of about 3 picosiemens (PubMed:10991935). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (PubMed:10991935). The inward rectification could be due to a blockade of the outward current by intracellular divalent cations such as calcium and magnesium and could also be due to an intrinsic property of the channel pore, independent of intracellular divalent ions. There are three positively charged amino acids in the S6 transmembrane domain, close to the pore, that collectively control the conductance and rectification through an electrostatic mechanism. Additionally, electrostatic contributions from these residues also play an important role in determining the intrinsic open probability of the channel in the absence of calcium, affecting the apparent calcium affinity for activation. Forms an heteromeric complex with calmodulin, which is constitutively associated in a calcium-independent manner. Channel opening is triggered when calcium binds the calmodulin resulting in a rotary movement leading to the formation of the dimeric complex to open the gate (By similarity). Plays a role in the repolarization phase of cardiac action potential (PubMed:13679367). {ECO:0000250|UniProtKB:P70604, ECO:0000269|PubMed:10991935, ECO:0000269|PubMed:13679367, ECO:0000269|PubMed:33242881, ECO:0000269|PubMed:9287325}.
uniprot
proteins
mass_dalton
63760
uniprot
proteins
protein_family
KCa2.2/KCNN2 subfamily
uniprot
proteins
protein_family
Potassium channel KCNN family
uniprot
proteins
pubmed
10991935
uniprot
proteins
pubmed
13679367
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20689065
uniprot
proteins
pubmed
32212350
uniprot
proteins
pubmed
33242881
uniprot
proteins
pubmed
9287325
uniprot
proteins
sequence_length
579
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:P58390}.
uniprot
proteins
transmembrane_region
TRANSMEM 138..158; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 168..188; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 256..276; /note="Helical; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 374..394; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins