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KCNN4 Gene(Protein Coding)

Potassium Calcium-Activated Channel Subfamily N Member 4

GCID:
GC19M043767
GIFtS:
66
Genes Participants
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Aliases for KCNN4 Gene

Aliases for KCNN4 Gene

  • Potassium Calcium-Activated Channel Subfamily N Member 4 2 3 5
  • Potassium Channel, Calcium Activated Intermediate/Small Conductance Subfamily N Alpha, Member 4 2 3
  • 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 Protein 4 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 Collagen chain trimerization and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). GO annotations related to this gene include calmodulin binding and potassium channel activity. An important paralog of this gene is KCNN2.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNN4 Gene

Genomics for KCNN4 Gene

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  1. Regulatory Element

Regulatory Elements for KCNN4 Gene

Enhancers for KCNN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G043773 2.1 FANTOM5 Ensembl ENCODE dbSUPER 35.1 +2.2 2238 12.4 CREB3L1 AGO1 YBX1 ZNF416 ZNF143 ZNF263 SP3 ZFP41 MEF2D ZNF610 ZNF225 ZNF45 ZNF180 LOC100505715 ZNF284 ZNF223 ZNF224 ZNF234 ZNF285 ZNF428
GH19G043744 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.8 +37.0 37025 1.6 HDGF WRNIP1 RAD21 SCRT2 ZNF143 IKZF2 THAP11 ZNF654 YY2 REST SMG9 PLAUR ZNF234 ZNF180 KCNN4 ZNF45 ZNF224 ZNF155 ZNF225 IRGC
GH19G043594 1.4 ENCODE dbSUPER 10.7 +185.7 185744 4.5 CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D ZNF610 ZNF180 PINLYP ZNF45 ZNF224 ZNF428 ZNF284 ZNF225 CADM4 ZNF234 MRPS15P2
GH19G043738 1.1 ENCODE dbSUPER 12.7 +42.0 41966 3.1 ZNF133 ZSCAN4 ZNF121 ZNF23 GLIS2 ZNF302 ZNF350 EGR2 ZNF680 ZNF174 ZNF225 ZNF180 ZNF45 ZNF155 ZNF234 XRCC1 ZNF224 LOC100505715 ZNF230 ZNF284
GH19G043826 1 ENCODE 12.2 -45.3 -45335 1.6 ATF1 ZNF493 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 ZNF766 ELK1 ZNF225 ZNF45 ZNF180 ZNF223 ZNF234 MRPS15P2 IRGQ LOC100505715 ZNF155 ZNF284
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNN4 on UCSC Golden Path with GeneCards custom track

Promoters for KCNN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110007 1739 801 HDGF HDAC1 CTCF LEF1 ESRRA RB1 NFRKB BACH1 NFXL1 EBF1

Transcription factor binding sites by QIAGEN in the KCNN4 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for KCNN4 Gene

Proteins for KCNN4 Gene

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  • 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

Protein Expression for KCNN4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=394394
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNN4 Gene

Domains & Families for KCNN4 Gene

Gene Families for KCNN4 Gene

HGNC:
IUPHAR :

Protein Domains for KCNN4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNN4 Gene

GenScript: Design optimal peptide antigens:

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
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  7. Flow Cytometry

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:0005267 potassium channel activity TAS --
GO:0005515 protein binding IPI 12198491
GO:0005516 calmodulin binding IEA,IBA --
GO:0015269 calcium-activated potassium channel activity IEA,IDA 18796614
GO:0016286 small conductance calcium-activated potassium channel activity IBA,IEA --
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

  • Taconic Biosciences Mouse Models for KCNN4

CRISPR Products

miRNA for KCNN4 Gene

miRTarBase miRNAs that target KCNN4

Inhibitory RNA Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNN4 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KCNN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS,IC 18796614
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IDA 25468996
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

1 GeneGo (Thomson Reuters) pathway 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:0002376 immune system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,TAS 9380751
GO:0006816 calcium ion transport IDA 18796614
genes like me logo Genes that share ontologies with KCNN4: view

Drugs & Compounds for KCNN4 Gene

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker, inhibitor, Target Cytochrome P450 inhibitor; antifungal 38
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker, Target, inhibitor 3706
Quinine Approved Pharma Pore Blocker, Target, inhibitor 46
Chlorzoxazone Approved Pharma Agonist, Activator, activator 7
Nitrendipine Approved Pharma Inhibition, Pore Blocker, blocker Calcium channel blocker 5

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
 76-05-1
TRAM 34
289905-88-0

(5) Tocris Compounds for KCNN4 Gene

Compound Action Cas Number
Apamin KCa2 channel blocker (small conductance) 24345-16-2
CyPPA Activator of KCa2.2 and KCa2.3 channels 73029-73-9
Iberiotoxin KCa channel blocker (big conductance) 129203-60-7
Paxilline SERCA ATPase blocker. Also potent BKCa channel blocker 57186-25-1
TRAM 34 Potent and highly selective KCa3.1 channel blocker 289905-88-0

(4) ApexBio Compounds for KCNN4 Gene

Compound Action Cas Number
NS 6180 KCa3.1 channel blocker 353262-04-1
Senicapoc Gardos channel and RBC inhibitor 289656-45-7
TRAM 39 Potent KCa3.1 blocker 197525-99-8
TRAM-34 KCa3.1 blocker,potent and highly selective 289905-88-0
genes like me logo Genes that share compounds with KCNN4: view

Transcripts for KCNN4 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCNN4 Gene

(4) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(148) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNN4 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNN4 Gene

mRNA expression in normal human tissues for KCNN4 Gene
mRNA expression by BioGPS for KCNN4 GenemRNA expression by GTEx 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, MaxQB, and MOPED for KCNN4 Gene



Protein tissue co-expression partners for KCNN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNN4 Gene:

KCNN4

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.

Evidence on tissue expression from TISSUES for KCNN4 Gene

  • Muscle(4.4)
  • Lymph node(4.2)
  • Pancreas(4.2)
  • Intestine(2.2)
  • Heart(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNN4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with KCNN4: view

Primer 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 34 35
  • 99.47 (n)
cow
(Bos Taurus)
 Mammalia KCNN4 35
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia KCNN4 34 35
  • 89.12 (n)
mouse
(Mus musculus)
 Mammalia Kcnn4 34 16 35
  • 86.16 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnn4 34
  • 84.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNN4 35
  • 70 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia KCNN4 35
  • 57 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101732300 34
  • 59.46 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC568363 34
  • 56.5 (n)
KCNN4 35
  • 42 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta SK 35
  • 18 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea kcnl-4 35
  • 22 (a)
 ManyToMany
kcnl-2 35
  • 21 (a)
 ManyToMany
kcnl-1 35
  • 17 (a)
 ManyToMany
kcnl-3 35
  • 17 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 32 (a)
 OneToMany
Species where no ortholog for KCNN4 was found in the sources mined by GeneCards:
  • 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
rs774455945 Pathogenic, Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] 43,769,027(+) CCTGG(C/T)GGAAC nc-transcript-variant, reference, missense
VAR_074485 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]
VAR_074486 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689]
rs1057519076 Pathogenic 43,769,805(-) TGCTG(A/G)TGGCC nc-transcript-variant, reference, missense
rs1057519077 Pathogenic 43,769,804(-) GCTGG(A/T)GGCCG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2718612 CNV deletion 23290073
nsv509745 CNV insertion 20534489
nsv833839 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
KCNN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dehydrated hereditary stomatocytosis 2
  • dhs2
fabry disease
  • fabry disease, cardiac variant
sickle cell disease
  • hbs disease
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 22 64
  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 4 22 64
  3. Delineation of the clotrimazole/TRAM-34 binding site on the intermediate conductance calcium-activated potassium channel, IKCa1. (PMID: 11425865) Wulff H. … Chandy K.G. (J. Biol. Chem. 2001) 3 4 22 64
  4. Up-regulation of the IKCa1 potassium channel during T-cell activation. Molecular mechanism and functional consequences. (PMID: 10961988) Ghanshani S. … Chandy K.G. (J. Biol. Chem. 2000) 3 4 22 64
  5. Calmodulin mediates calcium-dependent activation of the intermediate conductance KCa channel, IKCa1. (PMID: 10026195) Fanger C.M. … Aiyar J. (J. Biol. Chem. 1999) 3 4 22 64

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