Gene Gene information from NCBI Gene database.
Entrez ID 3782
Gene name Potassium calcium-activated channel subfamily N member 3
Gene symbol KCNN3
Synonyms (NCBI Gene)
KCa2.3SK3SKCA3ZLS3hSK3
Chromosome 1
Chromosome location 1q21.3
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1571259807 T>A Pathogenic Coding sequence variant, missense variant
rs1571260285 C>T Pathogenic Coding sequence variant, missense variant
rs1571353663 T>C Pathogenic Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
870
miRTarBase ID miRNA Experiments Reference
MIRT612837 hsa-miR-622 HITS-CLIP 19536157
MIRT612836 hsa-miR-3920 HITS-CLIP 19536157
MIRT612835 hsa-miR-29a-5p HITS-CLIP 19536157
MIRT612832 hsa-miR-30a-3p HITS-CLIP 19536157
MIRT612831 hsa-miR-30d-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 32296183
GO:0005516 Function Calmodulin binding IBA
GO:0005516 Function Calmodulin binding IDA 31155282
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602983 6292 ENSG00000143603
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGI6
Protein name Small conductance calcium-activated potassium channel protein 3 (SK3) (SKCa 3) (SKCa3) (KCa2.3)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03530 SK_channel 269 382 Calcium-activated SK potassium channel Family
PF07885 Ion_trans_2 461 547 Ion channel Family
PF02888 CaMBD 561 635 Calmodulin binding domain Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 3]: Widely distributed in human tissues and is present at 20-60% of KCNN3 in the brain. {ECO:0000269|PubMed:12808432}.
Sequence
MDTSGHFHDSGVGDLDEDPKCPCPSSGDEQQQQQQQQQQQQPPPPAPPAAPQQPLGPSLQ
PQPPQLQQQQQQQQQQQQQQPPHPLSQLAQLQSQPVHPGLLHSSPTAFRAPPSSNSTAIL
HPSSRQGSQLNLNDHLLGHSPSSTATSGPGGGSRHRQASPLVHRRDSNPFTEIAMSSCKY
SGGVMKPLSRLSASRRNLIEAETEGQPLQLFSPSNPPEIVISSREDNHAHQTLLHHPNAT
HNHQHAGTTASSTTFPKANKRKNQNIGYKLGHRRALFEKRKRLSDYALIFGMFGIVVMVI
ETELSWGLYSKDSMFSLALKCLISLSTIILLGLIIAYHTREVQLFVIDNGADDWRIAMTY
ERILYISLEMLVCAIHPIPGEY
KFFWTARLAFSYTPSRAEADVDIILSIPMFLRLYLIAR
VMLLHSKLFTDASSRSIGALNKINFNTRFVMKTLMTICPGTVLLVFSISLWIIAAWTVRV
CERYHDQQDVTSNFLGAMWLISITFLSIGYGDMVPHTYCGKGVCLLTGIMGAGCTALVVA
VVARKLE
LTKAEKHVHNFMMDTQLTKRIKNAAANVLRETWLIYKHTKLLKKIDHAKVRKH
QRKFLQAIHQLRSVKMEQRKLSDQANTLVDLSKMQ
NVMYDLITELNDRSEDLEKQIGSLE
SKLEHLTASFNSLPLLIADTLRQQQQQLLSAIIEARGVSVAVGTTHTPISDSPIGVSSTS
FPTPYTSSSSC
Sequence length 731
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Insulin secretion
GnRH secretion
  Ca2+ activated K+ channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Zimmermann-Laband syndrome 3 Pathogenic rs2101782564, rs1571259807, rs1571353663, rs1571260285 RCV001374389
RCV000991125
RCV000991126
RCV000991127
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anorexia Nervosa Anorexia BEFREE 12808432, 15389773
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 20173747, 21107608, 21398315, 22019810, 22726630, 23428961, 23499625, 24910551, 24978901, 25391453, 25684755, 26073630, 26272656, 26370375, 28381281
View all (1 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASDB_DG 20173747, 22544366
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 20173747, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 20173747, 22544366, 28416818, 29290336, 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 20173747, 21107608, 22019810, 22384221, 22726630, 23428961, 24910551, 26272656, 28175276, 28381281, 29624624, 31152482, 33350184 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 30664154 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 11121173, 11311923, 11526470, 11532529, 12898569, 12960745, 15389773
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 11311923, 11532529, 12898569, 12960745, 15389773
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 31696467
★☆☆☆☆
Found in Text Mining only