ENSG00000104783


Homo sapiens

Features
Gene ID: ENSG00000104783
  
Biological name :KCNN4
  
Synonyms : KCNN4 / O15554 / potassium calcium-activated channel subfamily N member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.31
Gene start: 43766533
Gene end: 43781257
  
Corresponding Affymetrix probe sets: 204401_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472513
Ensembl peptide - ENSP00000472510
Ensembl peptide - ENSP00000485014
Ensembl peptide - ENSP00000262888
Ensembl peptide - ENSP00000470339
Ensembl peptide - ENSP00000471900
NCBI entrez gene - 3783     See in Manteia.
OMIM - 602754
RefSeq - XM_005258883
RefSeq - NM_002250
RefSeq - XM_005258882
RefSeq Peptide - NP_002241
swissprot - M0R2F1
swissprot - D1MQ08
swissprot - M0R2E8
swissprot - O15554
swissprot - M0QZ70
swissprot - M0R1J0
Ensembl - ENSG00000104783
  
Related genetic diseases (OMIM): 616689 - Dehydrated hereditary stomatocytosis 2, 616689
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kcnn4ENSDARG00000086091Danio rerio
 Kcnn4ENSMUSG00000054342Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNN1 / Q92952 / potassium calcium-activated channel subfamily N member 1ENSG0000010564244
KCNN2 / Q9H2S1 / potassium calcium-activated channel subfamily N member 2ENSG0000008070944
KCNN3 / Q9UGI6 / potassium calcium-activated channel subfamily N member 3ENSG0000014360344


Protein motifs (from Interpro)
Interpro ID Name
 IPR004178  Calmodulin-binding domain
 IPR013099  Potassium channel domain
 IPR015449  Potassium channel, calcium-activated, SK
 IPR036122  SK, calmodulin-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006816 calcium ion transport IDA
 biological_processGO:0006884 cell volume homeostasis IEA
 biological_processGO:0006952 defense response TAS
 biological_processGO:0030322 stabilization of membrane potential IDA
 biological_processGO:0045332 phospholipid translocation IEA
 biological_processGO:0046541 saliva secretion IEA
 biological_processGO:0050714 positive regulation of protein secretion IEA
 biological_processGO:0050862 positive regulation of T cell receptor signaling pathway IDA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IC
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0043025 neuronal cell body IBA
 molecular_functionGO:0005267 potassium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0015269 calcium-activated potassium channel activity IEA
 molecular_functionGO:0016286 small conductance calcium-activated potassium channel activity IEA
 molecular_functionGO:0019903 protein phosphatase binding IPI


Pathways (from Reactome)
Pathway description
Ca2+ activated K+ channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0001923 Reticulocytosis 
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 HP:0001927 Red cell acanthocytosis "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002904 Hyperbilirubinemia 
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 HP:0004823 anisopoikilocytosis 
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 HP:0005518 Erythrocyte macrocytosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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