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

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3781
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium calcium-activated channel subfamily N member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNN2
Synonyms (NCBI Gene) Gene synonyms aliases
DYT34, KCa2.2, NEDMAB, SK2, SKCA2, SKCa 2, hSK2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1554086554 TAT>- Likely-pathogenic Coding sequence variant, inframe deletion, intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT029340 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ERG Unknown 23185447
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605879 6291 ENSG00000080709
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Serotonergic synapse
Insulin secretion
GnRH secretion
Bile secretion 		  Ca2+ activated K+ channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental Delay global developmental delay rs1554086554 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Congenital Heart Disease Congenital heart disease N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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