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Aliases for KCNK5 Gene

Aliases for KCNK5 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 5 2 3 5
  • Potassium Channel, Two Pore Domain Subfamily K, Member 5 2 3
  • Acid-Sensitive Potassium Channel Protein TASK-2 3 4
  • TWIK-Related Acid-Sensitive K(+) Channel 2 3 4
  • TASK2 3 4
  • Potassium Channel, Subfamily K, Member 1 (TASK-2) 3
  • Potassium Channel, Subfamily, Member 5 (KCNK5) 3
  • Potassium Channel, Subfamily K, Member 5 2
  • TWIK-Related Acid-Sensitive K+ Channel 2 3
  • Potassium Channel Subfamily K Member 5 3
  • K2P5.1 Potassium Channel 3
  • K2p5.1 3
  • KCNK5b 3
  • TASK-2 3

External Ids for KCNK5 Gene

Previous GeneCards Identifiers for KCNK5 Gene

  • GC06M039158
  • GC06M039203
  • GC06M039264
  • GC06M038875
  • GC06M039208
  • GC06M039242
  • GC06M039292
  • GC06M039246
  • GC06M039352
  • GC06M039381
  • GC06M039407
  • GC06M039442
  • GC06M039479

Summaries for KCNK5 Gene

Entrez Gene Summary for KCNK5 Gene

  • This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNK5 Gene

KCNK5 (Potassium Two Pore Domain Channel Subfamily K Member 5) is a Protein Coding gene. Diseases associated with KCNK5 include Balkan Nephropathy and Birk-Barel Mental Retardation Dysmorphism Syndrome. Among its related pathways are Hepatic ABC Transporters and Collagen chain trimerization. GO annotations related to this gene include potassium channel activity and potassium ion leak channel activity. An important paralog of this gene is KCNK10.

UniProtKB/Swiss-Prot for KCNK5 Gene

  • pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.

Tocris Summary for KCNK5 Gene

Gene Wiki entry for KCNK5 Gene

Additional gene information for KCNK5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNK5 Gene

Genomics for KCNK5 Gene

Regulatory Elements for KCNK5 Gene

Enhancers for KCNK5 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
GH06H039279 1.1 FANTOM5 ENCODE 13.8 -50.9 -50913 2.7 FOXA2 KLF1 KLF17 MAX RAD21 YY1 CTBP1 HNF4G FOS ZNF687 KCNK17 KCNK5 PIR44224
GH06H039251 1.2 ENCODE dbSUPER 10.4 -22.0 -21972 0.3 FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 YY1 TCF12 FOS KLF7 ATF7 SAYSD1 ANKRD18EP KCNK5 PIR44224
GH06H039101 1.2 Ensembl ENCODE dbSUPER 10.4 +127.4 127352 1.1 CTCF PKNOX1 ATF1 RB1 ZFP64 HLF REST RAD21 CTBP1 ZNF184 SAYSD1 GLP1R KCNK17 KCNK5 GC06M039525 PIR34726 LOC105375046
GH06H039223 2 FANTOM5 Ensembl ENCODE dbSUPER 4.3 +2.6 2647 6.9 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF548 FOS SP3 REST KCNK5 PIR34969
GH06H039262 0.7 ENCODE 11.9 -34.1 -34101 1.2 CEBPB MAX CEBPG RAD21 YY1 GATA3 JUND ATF3 SCRT2 POU5F1 KCNK17 KCNK5 SAYSD1 PIR44224
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNK5 on UCSC Golden Path with GeneCards custom track

Promoters for KCNK5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000320544 75 801 FOXA2 ARNT SIN3A ZNF2 ZNF548 SP3 REST SMARCB1 ZNF592 ZNF610
ENSR00000196606 975 201 TCF12 STAT1 TBL1XR1 NCOR1 IKZF1 ELF1

Genomic Locations for KCNK5 Gene

Genomic Locations for KCNK5 Gene
chr6:39,188,971-39,229,475
(GRCh38/hg38)
Size:
40,505 bases
Orientation:
Minus strand
chr6:39,156,747-39,197,251
(GRCh37/hg19)

Genomic View for KCNK5 Gene

Genes around KCNK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK5 Gene

Proteins for KCNK5 Gene

  • Protein details for KCNK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95279-KCNK5_HUMAN
    Recommended name:
    Potassium channel subfamily K member 5
    Protein Accession:
    O95279
    Secondary Accessions:
    • B2RAQ6
    • B5TJL2
    • Q5VV76

    Protein attributes for KCNK5 Gene

    Size:
    499 amino acids
    Molecular mass:
    55130 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    Miscellaneous:
    • Inhibited by quinine, quinidine and external acidification.

neXtProt entry for KCNK5 Gene

Post-translational modifications for KCNK5 Gene

  • Glycosylation at posLast=7777
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNK5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNK5 Gene

Domains & Families for KCNK5 Gene

Gene Families for KCNK5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNK5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95279

UniProtKB/Swiss-Prot:

KCNK5_HUMAN :
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
Domain:
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
genes like me logo Genes that share domains with KCNK5: view

Function for KCNK5 Gene

Molecular function for KCNK5 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel inwardly rectifying,subfamily K,member 5,mainly expressed in cortical tubules and collecting ducts of kidneys
UniProtKB/Swiss-Prot Function:
pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations.

Phenotypes From GWAS Catalog for KCNK5 Gene

Gene Ontology (GO) - Molecular Function for KCNK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005267 potassium channel activity TAS 9812978
GO:0022841 potassium ion leak channel activity IBA --
genes like me logo Genes that share ontologies with KCNK5: view
genes like me logo Genes that share phenotypes with KCNK5: view

miRNA for KCNK5 Gene

miRTarBase miRNAs that target KCNK5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNK5 Gene

Localization for KCNK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK5 Gene

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 KCNK5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9812978
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNK5: view

Pathways & Interactions for KCNK5 Gene

genes like me logo Genes that share pathways with KCNK5: view

Gene Ontology (GO) - Biological Process for KCNK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 9812978
GO:0007588 excretion TAS 9812978
GO:0030322 stabilization of membrane potential IBA --
genes like me logo Genes that share ontologies with KCNK5: view

No data available for SIGNOR curated interactions for KCNK5 Gene

Drugs & Compounds for KCNK5 Gene

(8) Drugs for KCNK5 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxapram HCl Pharma 0

(2) Additional Compounds for KCNK5 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for KCNK5 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker; neuroprotective 7647-17-8
YS-035 hydrochloride Inhibits K+ outward/pacemaker current 89805-39-0

(1) ApexBio Compounds for KCNK5 Gene

Compound Action Cas Number
Doxapram HCl 7081-53-0
genes like me logo Genes that share compounds with KCNK5: view

Drug Products

Transcripts for KCNK5 Gene

mRNA/cDNA for KCNK5 Gene

Unigene Clusters for KCNK5 Gene

Potassium channel, subfamily K, member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK5 Gene

No ASD Table

Relevant External Links for KCNK5 Gene

GeneLoc Exon Structure for
KCNK5
ECgene alternative splicing isoforms for
KCNK5

Expression for KCNK5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNK5 Gene

This gene is overexpressed in Kidney - Cortex (x9.8) and Skin - Sun Exposed (Lower leg) (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of KCNK5 Gene:

KCNK5

SOURCE GeneReport for Unigene cluster for KCNK5 Gene:

Hs.444448

mRNA Expression by UniProt/SwissProt for KCNK5 Gene:

O95279-KCNK5_HUMAN
Tissue specificity: Abundant expression in kidney, also detected in liver, placenta and small intestine. In the kidney, expression is restricted to the distal tubules and collecting ducts. Not expressed in proximal tubules or glomeruli.

Evidence on tissue expression from TISSUES for KCNK5 Gene

  • Kidney(4.4)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KCNK5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK5 Gene

Orthologs for KCNK5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNK5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNK5 33 34
  • 99 (n)
dog
(Canis familiaris)
Mammalia KCNK5 33 34
  • 88.11 (n)
cow
(Bos Taurus)
Mammalia KCNK5 33 34
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Kcnk5 33 16 34
  • 84.77 (n)
rat
(Rattus norvegicus)
Mammalia Kcnk5 33
  • 84.17 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNK5 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNK5 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNK5 33 34
  • 68.42 (n)
lizard
(Anolis carolinensis)
Reptilia KCNK5 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnk5 33
  • 68.45 (n)
Str.16771 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7279 33
zebrafish
(Danio rerio)
Actinopterygii kcnk5a 33 34
  • 57.42 (n)
kcnk5b 34
  • 44 (a)
OneToMany
Dr.17953 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6929 34
  • 29 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1682 33
Species where no ortholog for KCNK5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KCNK5 Gene

ENSEMBL:
Gene Tree for KCNK5 (if available)
TreeFam:
Gene Tree for KCNK5 (if available)

Paralogs for KCNK5 Gene

Paralogs for KCNK5 Gene

(1) SIMAP similar genes for KCNK5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNK5: view

Variants for KCNK5 Gene

Sequence variations from dbSNP and Humsavar for KCNK5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000010562 -- 39,221,312(+) CCCAA(A/G)CCTGT intron-variant
rs1000030532 -- 39,194,878(+) CAGTA(C/G)TTAAG intron-variant, upstream-variant-2KB
rs1000079352 -- 39,215,941(+) CAACC(A/C)CACCT intron-variant
rs1000189534 -- 39,193,952(+) AAAAA(G/T)GCCAT intron-variant
rs1000281101 -- 39,200,863(+) TGGGG(-/C)ATCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNK5 Gene

Variant ID Type Subtype PubMed ID
nsv950167 CNV deletion 24416366
nsv830644 CNV loss 17160897

Variation tolerance for KCNK5 Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNK5 Gene

Human Gene Mutation Database (HGMD)
KCNK5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK5 Gene

Disorders for KCNK5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNK5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
balkan nephropathy
  • balkan endemic nephropathy
birk-barel mental retardation dysmorphism syndrome
  • birk-barel syndrome
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
- elite association - COSMIC cancer census association via MalaCards
Search KCNK5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNK5

Genetic Association Database (GAD)
KCNK5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNK5
genes like me logo Genes that share disorders with KCNK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNK5 Gene

Publications for KCNK5 Gene

  1. Cloning and expression of a novel pH-sensitive two pore domain K+ channel from human kidney. (PMID: 9812978) Reyes R … Lazdunski M (The Journal of biological chemistry 1998) 2 3 4 22 60
  2. Regulation of two-pore-domain (K2P) potassium leak channels by the tyrosine kinase inhibitor genistein. (PMID: 18516069) Gierten J … Thomas D (British journal of pharmacology 2008) 3 4 60
  3. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. (PMID: 16382106) Goldstein SA … Rajan S (Pharmacological reviews 2005) 2 3 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Differential distribution of TASK-1, TASK-2 and TASK-3 immunoreactivities in the rat and human cerebellum. (PMID: 15197476) Rusznák Z … Szücs G (Cellular and molecular life sciences : CMLS 2004) 3 22 60

Products for KCNK5 Gene

Sources for KCNK5 Gene

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