Human Gene KCNN4 (ENST00000648319.1_8) from GENCODE V47lift37
  Description: potassium calcium-activated channel subfamily N member 4 (from RefSeq NM_002250.3)
Gencode Transcript: ENST00000648319.1_8
Gencode Gene: ENSG00000104783.15_15
Transcript (Including UTRs)
   Position: hg19 chr19:44,270,685-44,285,125 Size: 14,441 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:44,271,695-44,285,013 Size: 13,319 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:44,270,685-44,285,125)mRNA (may differ from genome)Protein (427 aa)
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ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNN4_HUMAN
DESCRIPTION: RecName: Full=Intermediate conductance calcium-activated potassium channel protein 4; Short=SK4; Short=SKCa 4; Short=SKCa4; AltName: Full=IKCa1; Short=IK1; AltName: Full=KCa3.1; AltName: Full=KCa4; AltName: Full=Putative Gardos channel;
FUNCTION: Forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin.
SUBUNIT: Heterotetramer of potassium channel proteins (Probable). Interacts with MTMR6.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Widely expressed in non-excitable tissues.
INDUCTION: Up-regulated by phorbol myristate acetate (PMA) and phytohemagglutinin (PHA) in T-cells.
PTM: Phosphorylation at His-358 by NDKB activates the channel, and conversely it's dephosphorylation by PHPT1 inhibits the channel.
SIMILARITY: Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNN4
Diseases sorted by gene-association score: dehydrated hereditary stomatocytosis 2* (1330), sickle cell disease (8), fabry disease (8), splenomegaly (6), diamond-blackfan anemia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.50112-0.451 Picture PostScript Text
3' UTR -223.80560-0.400 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004178 - CaM-bd_dom
IPR013099 - Ion_trans_2
IPR015449 - K_chnl_Ca-activ_SK

Pfam Domains:
PF02888 - Calmodulin binding domain
PF03530 - Calcium-activated SK potassium channel
PF07885 - Ion channel

SCOP Domains:
81324 - Voltage-gated potassium channels
81327 - Small-conductance potassium channel

ModBase Predicted Comparative 3D Structure on O15554
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015269 calcium-activated potassium channel activity
GO:0016286 small conductance calcium-activated potassium channel activity
GO:0019903 protein phosphatase binding

Biological Process:
GO:0002376 immune system process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006816 calcium ion transport
GO:0006884 cell volume homeostasis
GO:0006952 defense response
GO:0030322 stabilization of membrane potential
GO:0045332 phospholipid translocation
GO:0046541 saliva secretion
GO:0050714 positive regulation of protein secretion
GO:0050862 positive regulation of T cell receptor signaling pathway
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031982 vesicle
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AF033021 - Homo sapiens intermediate conductance calcium-activated potassium channel (hKCa4) mRNA, complete cds.
AF022797 - Homo sapiens intermediate conductance calcium-activated potassium channel (hKCa4) mRNA, complete cds.
BC015337 - Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4, mRNA (cDNA clone MGC:21272 IMAGE:4431534), complete cds.
JD223014 - Sequence 204038 from Patent EP1572962.
JD373587 - Sequence 354611 from Patent EP1572962.
JD141845 - Sequence 122869 from Patent EP1572962.
JD191984 - Sequence 173008 from Patent EP1572962.
JD325234 - Sequence 306258 from Patent EP1572962.
JD372792 - Sequence 353816 from Patent EP1572962.
JD107377 - Sequence 88401 from Patent EP1572962.
JD303434 - Sequence 284458 from Patent EP1572962.
JD268840 - Sequence 249864 from Patent EP1572962.
JD223001 - Sequence 204025 from Patent EP1572962.
AF395661 - Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 mRNA, complete cds.
JD168566 - Sequence 149590 from Patent EP1572962.
JD387535 - Sequence 368559 from Patent EP1572962.
JD376492 - Sequence 357516 from Patent EP1572962.
JD222503 - Sequence 203527 from Patent EP1572962.
JD178287 - Sequence 159311 from Patent EP1572962.
AB128983 - Homo sapiens KCNN4 mRNA for small conductance calcium activated potassium channel type 4 transcript variant 2, complete cds.
AB128984 - Homo sapiens KCNN4 mRNA for small conductance potassium channel type4 transcript variant 3, complete cds.
AB128985 - Homo sapiens KCNN4 mRNA for small conductance potassium channel type4 transcript variant 4, complete cds.
AF000972 - Homo sapiens calcium-activated potassium channel (hSK4) mRNA, complete cds.
AF022150 - Homo sapiens intermediate conductance calcium-activated potassium channel hIK1 (IK1) mRNA, complete cds.
BT007426 - Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 mRNA, complete cds.
DQ891493 - Synthetic construct clone IMAGE:100004123; FLH177452.01X; RZPDo839A05126D potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4) gene, encodes complete protein.
KJ891508 - Synthetic construct Homo sapiens clone ccsbBroadEn_00902 KCNN4 gene, encodes complete protein.
DQ894684 - Synthetic construct Homo sapiens clone IMAGE:100009144; FLH177448.01L; RZPDo839A05125D potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4) gene, encodes complete protein.
AF053403 - Homo sapiens putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel mRNA, partial cds.
CU677271 - Synthetic construct Homo sapiens gateway clone IMAGE:100019345 5' read KCNN4 mRNA.
JD425529 - Sequence 406553 from Patent EP1572962.
JD402030 - Sequence 383054 from Patent EP1572962.
JD200508 - Sequence 181532 from Patent EP1572962.
JD538458 - Sequence 519482 from Patent EP1572962.
JD200507 - Sequence 181531 from Patent EP1572962.
JD304023 - Sequence 285047 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15554 (Reactome details) participates in the following event(s):

R-HSA-1296035 Activation of Ca2+ activated Potassium channels with Intermeidtance conductance
R-HSA-1296052 Ca2+ activated K+ channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: IK1, IKCA1, KCA4, KCNN4_HUMAN, NM_002250, O15554, Q53XR4, SK4, uc328oqu.1, uc328oqu.2
UCSC ID: ENST00000648319.1_8
RefSeq Accession: NM_002250.3
Protein: O15554 (aka KCNN4_HUMAN or KCN4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.