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Aliases for KCNN4 Gene

Aliases for KCNN4 Gene

  • Potassium Calcium-Activated Channel Subfamily N Member 4 2 3
  • Potassium Channel, Calcium Activated Intermediate/Small Conductance Subfamily N Alpha, Member 4 2 3 5
  • Potassium Intermediate/Small Conductance Calcium-Activated Channel, Subfamily N, Member 4 2 3
  • Small Conductance Calcium-Activated Potassium Channel 4 2 3
  • Putative Gardos Channel 3 4
  • SKCa 4 3 4
  • KCa3.1 3 4
  • IKCA1 3 4
  • SKCa4 3 4
  • KCA4 3 4
  • IK1 3 4
  • SK4 3 4
  • Putative Erythrocyte Intermediate Conductance Calcium-Activated Potassium Gardos Channel 3
  • Intermediate Conductance Calcium-Activated Potassium Channel 2
  • HIKCa1 3
  • HKCa4 3
  • DHS2 3
  • HSK4 3
  • IK 3

External Ids for KCNN4 Gene

Previous GeneCards Identifiers for KCNN4 Gene

  • GC19M044916
  • GC19M044662
  • GC19M048946
  • GC19M048962
  • GC19M044270
  • GC19M040702

Summaries for KCNN4 Gene

Entrez Gene Summary for KCNN4 Gene

  • The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNN4 Gene

KCNN4 (Potassium Calcium-Activated Channel Subfamily N Member 4) is a Protein Coding gene. Diseases associated with KCNN4 include dehydrated hereditary stomatocytosis 2 and fabry disease. Among its related pathways are Transmission across Chemical Synapses and Insulin secretion. GO annotations related to this gene include calmodulin binding and potassium channel activity. An important paralog of this gene is KCNN1.

UniProtKB/Swiss-Prot for KCNN4 Gene

  • Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed:26148990). 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 (PubMed:17157250, PubMed:18796614).

Tocris Summary for KCNN4 Gene

  • Calcium (Ca2+) -activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes: SK, IK and BK channels (small, intermediate and big conductance).

Gene Wiki entry for KCNN4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNN4 Gene

Genomics for KCNN4 Gene

Regulatory Elements for KCNN4 Gene

Promoters for KCNN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNN4 Gene

Chromosome:
19
Start:
43,766,533 bp from pter
End:
43,782,139 bp from pter
Size:
15,607 bases
Orientation:
Minus strand

Genomic View for KCNN4 Gene

Genes around KCNN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNN4 Gene

Proteins for KCNN4 Gene

  • Protein details for KCNN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15554-KCNN4_HUMAN
    Recommended name:
    Intermediate conductance calcium-activated potassium channel protein 4
    Protein Accession:
    O15554
    Secondary Accessions:
    • Q53XR4

    Protein attributes for KCNN4 Gene

    Size:
    427 amino acids
    Molecular mass:
    47696 Da
    Quaternary structure:
    • Heterotetramer of potassium channel proteins (Probable). Interacts with MTMR6.

neXtProt entry for KCNN4 Gene

Proteomics data for KCNN4 Gene at MOPED

Post-translational modifications for KCNN4 Gene

  • Phosphorylation at His-358 by NDKB activates the channel, and conversely its dephosphorylation by PHPT1 inhibits the channel.
  • Ubiquitination at Lys 394
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNN4 Gene

Antibody Products

No data available for DME Specific Peptides for KCNN4 Gene

Domains & Families for KCNN4 Gene

Gene Families for KCNN4 Gene

Graphical View of Domain Structure for InterPro Entry

O15554

UniProtKB/Swiss-Prot:

KCNN4_HUMAN :
  • Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily.
Family:
  • Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily.
genes like me logo Genes that share domains with KCNN4: view

Function for KCNN4 Gene

Molecular function for KCNN4 Gene

GENATLAS Biochemistry:
potassium intermediate/small conductance calcium-activated channel,subfamily N,member 4,expressed in T lymphocytes and red cells,also expressed in placenta,prostate,fetal,liver and spleen,pancreas and ovarian tumors
UniProtKB/Swiss-Prot Function:
Forms a voltage-independent potassium channel that is activated by intracellular calcium (PubMed:26148990). 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 (PubMed:17157250, PubMed:18796614).
UniProtKB/Swiss-Prot Induction:
Up-regulated by phorbol myristate acetate (PMA) and phytohemagglutinin (PHA) in T-cells.

Gene Ontology (GO) - Molecular Function for KCNN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019903 protein phosphatase binding IPI 18796614
genes like me logo Genes that share ontologies with KCNN4: view
genes like me logo Genes that share phenotypes with KCNN4: view

Human Phenotype Ontology for KCNN4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNN4 Gene

MGI Knock Outs for KCNN4:

Animal Model Products

CRISPR Products

miRNA for KCNN4 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNN4 Gene

Localization for KCNN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNN4 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNN4 Gene COMPARTMENTS Subcellular localization image for KCNN4 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNN4: view

Pathways & Interactions for KCNN4 Gene

genes like me logo Genes that share pathways with KCNN4: view

Pathways by source for KCNN4 Gene

SIGNOR curated interactions for KCNN4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KCNN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport IEA,TAS 9380751
GO:0006816 calcium ion transport IDA 18796614
GO:0006952 defense response TAS 9407042
GO:0007268 synaptic transmission TAS --
GO:0045332 phospholipid translocation IEA --
genes like me logo Genes that share ontologies with KCNN4: view

Drugs & Compounds for KCNN4 Gene

(29) Drugs for KCNN4 Gene - From: Novoseek, IUPHAR, DGIdb, DrugBank, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved Pharma Inhibition, Pore Blocker, inhibitor, Target Cytochrome P450 inhibitor; antifungal 26
Miconazole Approved, Investigational Pharma Antagonist, Pore Blocker, Target, inhibitor 3026
Quinine Approved Pharma Pore Blocker, Target, inhibitor 41
Chlorzoxazone Approved Pharma Agonist, Activator, activator 6
Nitrendipine Approved Pharma Inhibition, Pore Blocker, blocker Calcium channel blocker 5

(10) Additional Compounds for KCNN4 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
1-EBIO
10045-45-1
BMS 191011
202821-81-6
DCEBIO
60563-36-2
SKA 31
40172-65-4
genes like me logo Genes that share compounds with KCNN4: view

Transcripts for KCNN4 Gene

Unigene Clusters for KCNN4 Gene

Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNN4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3:
SP4: - - - - - - -
SP5: -
SP6:
SP7: -
SP8: -

Relevant External Links for KCNN4 Gene

GeneLoc Exon Structure for
KCNN4
ECgene alternative splicing isoforms for
KCNN4

Expression for KCNN4 Gene

mRNA expression in normal human tissues for KCNN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNN4 Gene

This gene is overexpressed in Minor Salivary Gland (x9.4).

Protein differential expression in normal tissues from HIPED for KCNN4 Gene

This gene is overexpressed in Placenta (56.4) and Pancreas (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KCNN4 Gene



SOURCE GeneReport for Unigene cluster for KCNN4 Gene Hs.10082

mRNA Expression by UniProt/SwissProt for KCNN4 Gene

O15554-KCNN4_HUMAN
Tissue specificity: Widely expressed in non-excitable tissues.
genes like me logo Genes that share expression patterns with KCNN4: view

Protein tissue co-expression partners for KCNN4 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNN4 35
  • 99.47 (n)
  • 99.2 (a)
KCNN4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNN4 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNN4 36
  • 91 (a)
OneToOne
KCNN4 35
  • 89.12 (n)
  • 90.85 (a)
mouse
(Mus musculus)
Mammalia Kcnn4 16
Kcnn4 36
  • 87 (a)
OneToOne
Kcnn4 35
  • 86.16 (n)
  • 87.74 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNN4 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnn4 35
  • 84.63 (n)
  • 86.76 (a)
lizard
(Anolis carolinensis)
Reptilia KCNN4 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732300 35
  • 59.46 (n)
  • 53.32 (a)
zebrafish
(Danio rerio)
Actinopterygii KCNN4 36
  • 42 (a)
OneToOne
LOC568363 35
  • 56.5 (n)
  • 50.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta SK 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kcnl-1 36
  • 17 (a)
ManyToMany
kcnl-2 36
  • 21 (a)
ManyToMany
kcnl-3 36
  • 17 (a)
ManyToMany
kcnl-4 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for KCNN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNN4 Gene

ENSEMBL:
Gene Tree for KCNN4 (if available)
TreeFam:
Gene Tree for KCNN4 (if available)

Paralogs for KCNN4 Gene

Paralogs for KCNN4 Gene

(5) SIMAP similar genes for KCNN4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with KCNN4: view

Variants for KCNN4 Gene

Sequence variations from dbSNP and Humsavar for KCNN4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_074485 Dehydrated hereditary stomatocytosis 2 (DHS2)
VAR_074486 Dehydrated hereditary stomatocytosis 2 (DHS2)
VAR_074487 Dehydrated hereditary stomatocytosis 2 (DHS2)
rs7181 -- 43,766,773(-) GACTC(C/T)TGGGT nc-transcript-variant, utr-variant-3-prime
rs11351 -- 43,766,914(+) GGCCT(A/C)CCCAC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNN4 Gene

Variant ID Type Subtype PubMed ID
nsv833839 CNV Loss 17160897
nsv509745 CNV Insertion 20534489
esv2718612 CNV Deletion 23290073

Variation tolerance for KCNN4 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNN4 Gene

HapMap Linkage Disequilibrium report
KCNN4
Human Gene Mutation Database (HGMD)
KCNN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNN4 Gene

Disorders for KCNN4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCNN4 Gene - From: GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dehydrated hereditary stomatocytosis 2
  • dhs2
fabry disease
  • fabry disease, cardiac variant
splenomegaly
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
Search KCNN4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNN4_HUMAN
  • Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. {ECO:0000269 PubMed:26148990, ECO:0000269 PubMed:26178367, ECO:0000269 PubMed:26198474}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNN4

Genetic Association Database (GAD)
KCNN4
Human Genome Epidemiology (HuGE) Navigator
KCNN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNN4
genes like me logo Genes that share disorders with KCNN4: view

No data available for Genatlas for KCNN4 Gene

Publications for KCNN4 Gene

  1. hSK4, a member of a novel subfamily of calcium-activated potassium channels. (PMID: 9380751) Joiner W.J. … Kaczmarek L.K. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. A novel gene, hKCa4, encodes the calcium-activated potassium channel in human T lymphocytes. (PMID: 9407042) Logsdon N.J. … Aiyar J. (J. Biol. Chem. 1997) 2 3 23
  3. Intermediate-conductance Ca2+-activated K+ channels (IKCa1) regulate human prostate cancer cell proliferation through a close control of calcium entry. (PMID: 19270724) Lallet-Daher H. … Prevarskaya N. (Oncogene 2009) 3 23
  4. Intermediate conductance Ca2+-activated potassium channel (KCa3.1) in the inner mitochondrial membrane of human colon cancer cells. (PMID: 19406468) De Marchi U. … Zoratti M. (Cell Calcium 2009) 3 23
  5. Identification and functional characterization of the intermediate-conductance Ca(2+)-activated K(+) channel (IK-1) in biliary epithelium. (PMID: 20501432) Dutta A.K. … Feranchak A.P. (Am. J. Physiol. Gastrointest. Liver Physiol. 2009) 3 23

Products for KCNN4 Gene

Sources for KCNN4 Gene

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