This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may b... See more...

Aliases for KCNK4 Gene

Aliases for KCNK4 Gene

  • Potassium Two Pore Domain Channel Subfamily K Member 4 2 3 5
  • TRAAK 2 3 4
  • TWIK-Related Arachidonic Acid-Stimulated Potassium Channel Protein 3 4
  • Potassium Channel, Two Pore Domain Subfamily K, Member 4 2 3
  • Potassium Channel, Subfamily K, Member 4 2 3
  • Potassium Channel Subfamily K Member 4 3 4
  • Two Pore Potassium Channel KT4.1 3 4
  • Two Pore K(+) Channel KT4.1 3 4
  • K2p4.1 2 3
  • Two Pore K+ Channel KT4.1 3
  • K2P4.1 Potassium Channel 3
  • TRAAK1 3
  • FHEIG 3
  • KCNK4 5

External Ids for KCNK4 Gene

Previous GeneCards Identifiers for KCNK4 Gene

  • GC11P066574
  • GC11P065740
  • GC11P064309
  • GC11P063834
  • GC11P063815
  • GC11P064058
  • GC11P060386

Summaries for KCNK4 Gene

Entrez Gene Summary for KCNK4 Gene

  • This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]

GeneCards Summary for KCNK4 Gene

KCNK4 (Potassium Two Pore Domain Channel Subfamily K Member 4) is a Protein Coding gene. Diseases associated with KCNK4 include Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome and Gingival Overgrowth. Among its related pathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated ion channel activity. An important paralog of this gene is KCNK10.

UniProtKB/Swiss-Prot Summary for KCNK4 Gene

  • Voltage-insensitive potassium channel (PubMed:22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:30290154). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity).

Tocris Summary for KCNK4 Gene

Gene Wiki entry for KCNK4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNK4 Gene

Genomics for KCNK4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J064291 Promoter 1 EPDnew Ensembl 250.7 +0.9 899 1.2 BCL6 BHLHE40 CTCF GATA2 EZH2 POLR2A DPF2 ZFHX2 ZBTB26 KCNK4 KCNK4-TEX40 CATSPERZ TRMT112 ENSG00000207024
GH11J064290 Promoter 0.6 EPDnew 250.7 0.0 -19 0.1 SP1 GATA2 EZH2 KCNK4 KCNK4-TEX40 BAD NONHSAG008605.2
GH11J063563 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -725.3 -725296 5.8 BCLAF1 SP1 ZNF207 NCOR1 JUND ZNF592 NFIC BCL11A REST TARDBP PLAAT2 HSALNG0084703 HSALNG0084704 PLAAT4 KCNK4 TTC9C RCOR2 PLAAT3 ENSG00000203520 ENSG00000256789
GH11J064205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -83.7 -83707 4.4 BCLAF1 SP1 NCOR1 MYC IKZF1 ZNF592 POLR2A YY1 CTCF SMAD5 FERMT3 TRPT1 ZFPL1 PLCB3 ENSG00000257086 GPR137 BAD KCNK4 KCNK4-TEX40 ENSG00000207024
GH11J064347 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 +56.9 56899 2.4 CEBPA CEBPB MAX EP300 ETV4 GABPB1 FOSL2 JUND MBD1 PRDM10 CCDC88B ENSG00000236935 MIR1237 TRMT112 PRDX5 ESRRA CATSPERZ ENSG00000207024 KCNK4 KCNK4-TEX40
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNK4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNK4

Top Transcription factor binding sites by QIAGEN in the KCNK4 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for KCNK4 Gene

Latest Assembly
chr11:64,291,302-64,300,031
(GRCh38/hg38)
Size:
8,730 bases
Orientation:
Plus strand

Previous Assembly
chr11:64,058,774-64,067,503
(GRCh37/hg19 by Entrez Gene)
Size:
8,730 bases
Orientation:
Plus strand

chr11:64,058,774-64,067,503
(GRCh37/hg19 by Ensembl)
Size:
8,730 bases
Orientation:
Plus strand

Genomic View for KCNK4 Gene

Genes around KCNK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK4 Gene

Proteins for KCNK4 Gene

  • Protein details for KCNK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYG8-KCNK4_HUMAN
    Recommended name:
    Potassium channel subfamily K member 4
    Protein Accession:
    Q9NYG8
    Secondary Accessions:
    • B5TJL1
    • Q96T94

    Protein attributes for KCNK4 Gene

    Size:
    393 amino acids
    Molecular mass:
    42704 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for KCNK4 Gene

    Alternative splice isoforms for KCNK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNK4 Gene

Post-translational modifications for KCNK4 Gene

Other Protein References for KCNK4 Gene

No data available for DME Specific Peptides for KCNK4 Gene

Domains & Families for KCNK4 Gene

Gene Families for KCNK4 Gene

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

Protein Domains for KCNK4 Gene

InterPro:
Blocks:
  • Two pore domain K+ channel signature
  • Ion transport 2, bacterial
  • TRAAK K+ channel signature

Suggested Antigen Peptide Sequences for KCNK4 Gene

GenScript: Design optimal peptide antigens:
  • KCNK4 protein (A3KMH3_HUMAN)
  • Two pore potassium channel KT4.1 (KCNK4_HUMAN)
  • KCNK4 protein (Q2YDA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYG8

UniProtKB/Swiss-Prot:

KCNK4_HUMAN :
  • Channel opening is brought about by a conformation change that involves buckling of the second transmembrane helix and affects the position and orientation of the fourth transmembrane helix.
Domain:
  • Channel opening is brought about by a conformation change that involves buckling of the second transmembrane helix and affects the position and orientation of the fourth transmembrane helix.
  • Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.
genes like me logo Genes that share domains with KCNK4: view

Function for KCNK4 Gene

Molecular function for KCNK4 Gene

UniProtKB/Swiss-Prot Function:
Voltage-insensitive potassium channel (PubMed:22282805). Channel opening is triggered by mechanical forces that deform the membrane (PubMed:22282805, PubMed:25471887, PubMed:25500157, PubMed:30290154). Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by arachidonic acid.

Phenotypes From GWAS Catalog for KCNK4 Gene

Gene Ontology (GO) - Molecular Function for KCNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005267 potassium channel activity TAS,IDA 22282805
GO:0022841 potassium ion leak channel activity IBA 21873635
GO:0097604 temperature-gated cation channel activity ISS --
GO:0098782 mechanosensitived potassium channel activity IDA 22282805
genes like me logo Genes that share ontologies with KCNK4: view
genes like me logo Genes that share phenotypes with KCNK4: view

Human Phenotype Ontology for KCNK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNK4 Gene

MGI Knock Outs for KCNK4:

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNK4

miRNA for KCNK4 Gene

miRTarBase miRNAs that target KCNK4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNK4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNK4 Gene

Localization for KCNK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNK4 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 KCNK4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034705 potassium channel complex IDA 22282805
genes like me logo Genes that share ontologies with KCNK4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNK4 Gene

Pathways & Interactions for KCNK4 Gene

PathCards logo

SuperPathways for KCNK4 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Cardiac conduction
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCNK4: view

Pathways by source for KCNK4 Gene

13 Qiagen pathways for KCNK4 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Gene Ontology (GO) - Biological Process for KCNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 10767409
GO:0007613 memory IEA --
GO:0019233 sensory perception of pain ISS --
GO:0030322 stabilization of membrane potential IBA 21873635
genes like me logo Genes that share ontologies with KCNK4: view

No data available for SIGNOR curated interactions for KCNK4 Gene

Drugs & Compounds for KCNK4 Gene

(5) Drugs for KCNK4 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riluzole Approved, Investigational Pharma Activator, blocker Sodium channel protein inhibitor 83
arachidonic acid Experimental Pharma Activator 41
Cesium chloride Pharma Potassium channel blocker, Potassium channel blocker; neuroprotective 0
YS-035 hydrochloride Pharma Inhibits K+ outward/pacemaker current 0

(2) Tocris Compounds for KCNK4 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
genes like me logo Genes that share compounds with KCNK4: view

Transcripts for KCNK4 Gene

mRNA/cDNA for KCNK4 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNK4

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5: -
SP6: - - - - - -
SP7: - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - -
SP10:
SP11: - - - -

ExUns: 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for KCNK4 Gene

GeneLoc Exon Structure for
KCNK4

Expression for KCNK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNK4 Gene

mRNA differential expression in normal tissues according to GTEx for KCNK4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.4), Brain - Amygdala (x6.1), Brain - Hippocampus (x6.1), Brain - Cortex (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.4), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.8), and Brain - Putamen (basal ganglia) (x4.7).

Protein differential expression in normal tissues from HIPED for KCNK4 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNK4 Gene



Protein tissue co-expression partners for KCNK4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNK4

SOURCE GeneReport for Unigene cluster for KCNK4 Gene:

Hs.647233

Evidence on tissue expression from TISSUES for KCNK4 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with KCNK4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK4 Gene

Orthologs for KCNK4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNK4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNK4 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNK4 29 30
  • 88.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNK4 29 30
  • 88.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnk4 29 16 30
  • 81.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnk4 29
  • 80.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia KCNK4 30
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 32 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 35 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnk4 29
  • 60.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii BX465841.1 30
  • 36 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6929 30
  • 32 (a)
ManyToMany
-- 30
  • 28 (a)
ManyToMany
Species where no ortholog for KCNK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 KCNK4 Gene

ENSEMBL:
Gene Tree for KCNK4 (if available)
TreeFam:
Gene Tree for KCNK4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNK4: view image
Alliance of Genome Resources:
Additional Orthologs for KCNK4

Paralogs for KCNK4 Gene

(6) SIMAP similar genes for KCNK4 Gene using alignment to 5 proteins:

  • KCNK4_HUMAN
  • A3KMH3_HUMAN
  • F5GYE0_HUMAN
  • F5GZ20_HUMAN
  • Q2YDA1_HUMAN
genes like me logo Genes that share paralogs with KCNK4: view

Variants for KCNK4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNK4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
930708 Uncertain Significance: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,131(+) C/T
NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
930709 Conflicting Interpretations: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,146(+) C/T
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1189909394 Pathogenic: Gingival overgrowth; Intellectual disability; Seizures; Abnormal facial shape; Generalized hypertrichosis; Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,178(+) G/C
NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1565369746 Pathogenic: Gingival overgrowth; Intellectual disability; Seizures; Abnormal facial shape; Generalized hypertrichosis; Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,297,507(+) C/A
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1591231801 Likely Benign: not provided 64,299,405(+) C/G
NM_033310.3(KCNK4):c.861C>G (p.Thr287=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNK4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCNK4 Gene

Variant ID Type Subtype PubMed ID
dgv1963n54 CNV loss 21841781
esv3626658 CNV loss 21293372
nsv357 CNV insertion 18451855
nsv469961 CNV loss 18288195
nsv832186 CNV loss 17160897
nsv951010 CNV deletion 24416366

Variation tolerance for KCNK4 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.94; 83.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNK4
Leiden Open Variation Database (LOVD)
KCNK4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNK4 Gene

Disorders for KCNK4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for KCNK4 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KCNK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNK4_HUMAN
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381]: An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip. {ECO:0000269 PubMed:30290154}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KCNK4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNK4: view

No data available for Genatlas for KCNK4 Gene

Publications for KCNK4 Gene

  1. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. (PMID: 30290154) Bauer CK … Tartaglia M (American journal of human genetics 2018) 3 4 72
  2. Cloning of two transcripts, HKT4.1a and HKT4.1b, from the human two-pore K+ channel gene KCNK4. Chromosomal localization, tissue distribution and functional expression. (PMID: 12191490) Ozaita A … Vega-Saenz de Miera E (Brain research. Molecular brain research 2002) 3 4 22
  3. Cloning and expression of human TRAAK, a polyunsaturated fatty acids-activated and mechano-sensitive K(+) channel. (PMID: 10767409) Lesage F … Lazdunski M (FEBS letters 2000) 2 3 4
  4. Transmembrane helix straightening and buckling underlies activation of mechanosensitive and thermosensitive K(2P) channels. (PMID: 25500157) Lolicato M … Minor DL (Neuron 2014) 3 4
  5. Domain-swapped chain connectivity and gated membrane access in a Fab-mediated crystal of the human TRAAK K+ channel. (PMID: 23341632) Brohawn SG … MacKinnon R (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4

Products for KCNK4 Gene

Sources for KCNK4 Gene