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Aliases for KCNJ14 Gene

Aliases for KCNJ14 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 14 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 14 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 14 3 4
  • Inward Rectifier K(+) Channel Kir2.4 3 4
  • IRK-4 3 4
  • IRK4 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 14 3
  • Inwardly Rectifying Potassium Channel KIR2.4 3
  • KIR2.4 3

External Ids for KCNJ14 Gene

Previous GeneCards Identifiers for KCNJ14 Gene

  • GC19P049603
  • GC19P049318
  • GC19P053634
  • GC19P053650
  • GC19P048958
  • GC19P045338

Summaries for KCNJ14 Gene

Entrez Gene Summary for KCNJ14 Gene

  • Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]

GeneCards Summary for KCNJ14 Gene

KCNJ14 (Potassium Voltage-Gated Channel Subfamily J Member 14) is a Protein Coding gene. Among its related pathways are Cardiac conduction and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ2.

UniProtKB/Swiss-Prot for KCNJ14 Gene

  • Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity).

Tocris Summary for KCNJ14 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ14 Gene

Additional gene information for KCNJ14 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ14 Gene

Genomics for KCNJ14 Gene

GeneHancer (GH) Regulatory Elements for KCNJ14 Gene

Promoters and enhancers for KCNJ14 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
GH19I048455 Promoter 0.5 EPDnew 550.8 +0.1 51 0.1 KCNJ14 GRWD1 ENSG00000268465
GH19I048424 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.3 -30.4 -30432 1.4 ZNF143 FOS ATF7 RUNX3 JUNB REST ZNF592 SMARCA4 NBN LEF1 GRWD1 KCNJ14 CYTH2 TMEM143 SYNGR4 KDELR1 GRIN2D
GH19I048444 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.8 -9.7 -9734 2.3 HDGF CLOCK ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 GRWD1 RPL18 KDELR1 NOP53 SNORD23 BAX BICRA SNRNP70 NOP53-AS1 ENSG00000268746
GH19I048588 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +133.7 133698 1.2 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A YBX1 ZNF2 ZBTB7B IRF4 GRWD1 BICRA NOP53-AS1 SULT2B1 SNORD35A KDELR1 ENSG00000268746 ALDH16A1 SNRNP70 TEAD2
GH19I048061 Enhancer 0.2 FANTOM5 13 -394.3 -394280 0.4 PLA2G4C-AS1 CABP5 KCNJ14 CRX PLA2G4C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNJ14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNJ14 gene promoter:

Genomic Locations for KCNJ14 Gene

Genomic Locations for KCNJ14 Gene
chr19:48,455,509-48,466,980
(GRCh38/hg38)
Size:
11,472 bases
Orientation:
Plus strand
chr19:48,958,766-48,969,367
(GRCh37/hg19)

Genomic View for KCNJ14 Gene

Genes around KCNJ14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ14 Gene

Proteins for KCNJ14 Gene

  • Protein details for KCNJ14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNX9-KCJ14_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 14
    Protein Accession:
    Q9UNX9

    Protein attributes for KCNJ14 Gene

    Size:
    436 amino acids
    Molecular mass:
    47846 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNJ14 Gene

Post-translational modifications for KCNJ14 Gene

No Post-translational modifications

Other Protein References for KCNJ14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ14 Gene

Domains & Families for KCNJ14 Gene

Gene Families for KCNJ14 Gene

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

Suggested Antigen Peptide Sequences for KCNJ14 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNX9

UniProtKB/Swiss-Prot:

KCJ14_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ14 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ14 subfamily.
genes like me logo Genes that share domains with KCNJ14: view

Function for KCNJ14 Gene

Molecular function for KCNJ14 Gene

UniProtKB/Swiss-Prot Function:
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity).

Phenotypes From GWAS Catalog for KCNJ14 Gene

Gene Ontology (GO) - Molecular Function for KCNJ14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IBA --
GO:0005244 voltage-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with KCNJ14: view

Phenotypes for KCNJ14 Gene

genes like me logo Genes that share phenotypes with KCNJ14: view

Animal Model Products

miRNA for KCNJ14 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNJ14 Gene

Localization for KCNJ14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ14 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 KCNJ14 gene
Compartment Confidence
plasma membrane 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNJ14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 9592090
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with KCNJ14: view

Pathways & Interactions for KCNJ14 Gene

genes like me logo Genes that share pathways with KCNJ14: view

Pathways by source for KCNJ14 Gene

Gene Ontology (GO) - Biological Process for KCNJ14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ14: view

No data available for SIGNOR curated interactions for KCNJ14 Gene

Drugs & Compounds for KCNJ14 Gene

(11) Drugs for KCNJ14 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Yohimbine Approved, Investigational, Vet_approved Pharma Antagonist, Target 28
Magnesium Approved Nutra 0
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 116
Nicorandil Approved, Investigational Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 19
Ba<sup>2+</sup> Pharma Pore Blocker 0

(1) Additional Compounds for KCNJ14 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator

(5) Tocris Compounds for KCNJ14 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9
genes like me logo Genes that share compounds with KCNJ14: view

Transcripts for KCNJ14 Gene

mRNA/cDNA for KCNJ14 Gene

Unigene Clusters for KCNJ14 Gene

Potassium inwardly-rectifying channel, subfamily J, member 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ14 Gene

No ASD Table

Relevant External Links for KCNJ14 Gene

GeneLoc Exon Structure for
KCNJ14
ECgene alternative splicing isoforms for
KCNJ14

Expression for KCNJ14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCNJ14 Gene

This gene is overexpressed in Heart (51.7) and Retina (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ14 Gene



Protein tissue co-expression partners for KCNJ14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ14 Gene:

KCNJ14

SOURCE GeneReport for Unigene cluster for KCNJ14 Gene:

Hs.736972

mRNA Expression by UniProt/SwissProt for KCNJ14 Gene:

Q9UNX9-KCJ14_HUMAN
Tissue specificity: Expressed preferentially in retina.
genes like me logo Genes that share expression patterns with KCNJ14: view

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ14 Gene

Orthologs for KCNJ14 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ14 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia KCNJ14 33
  • 92.59 (n)
cow
(Bos Taurus)
Mammalia KCNJ14 33 34
  • 91.17 (n)
mouse
(Mus musculus)
Mammalia Kcnj14 33 16 34
  • 88.25 (n)
rat
(Rattus norvegicus)
Mammalia Kcnj14 33
  • 87.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ14 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 29 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KCNJ14 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj14 33
  • 64.66 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnj14 33 34
  • 66.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ir 35
  • 49 (a)
Irk3 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 35 34
  • 49 (a)
irk-2 35 34
  • 47 (a)
Species where no ortholog for KCNJ14 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 KCNJ14 Gene

ENSEMBL:
Gene Tree for KCNJ14 (if available)
TreeFam:
Gene Tree for KCNJ14 (if available)

Paralogs for KCNJ14 Gene

(16) SIMAP similar genes for KCNJ14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ14: view

Variants for KCNJ14 Gene

Sequence variations from dbSNP and Humsavar for KCNJ14 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000055611 -- 48,456,853(+) A/G intron_variant
rs1000126016 -- 48,454,943(+) TTTCTTTTCT/TTTCT upstream_transcript_variant
rs1000128892 -- 48,458,300(+) C/A/T intron_variant
rs1000178712 -- 48,455,144(+) A/G upstream_transcript_variant
rs1000430115 -- 48,457,139(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ14 Gene

Variant ID Type Subtype PubMed ID
nsv828572 CNV loss 20364138
nsv9739 CNV gain+loss 18304495

Variation tolerance for KCNJ14 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ14 Gene

Disorders for KCNJ14 Gene

Additional Disease Information for KCNJ14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KCNJ14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNJ14 Gene

Publications for KCNJ14 Gene

  1. Cloning, structure and assignment to chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14). (PMID: 10723734) Töpert C … Karschin A (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 2 3 4 22 58
  2. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58
  3. Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2. (PMID: 15958527) Fang Y … Levitan I (American journal of physiology. Cell physiology 2005) 3 22 58
  4. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y … Vandenberg CA (Pharmacological reviews 2005) 2 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for KCNJ14 Gene

Sources for KCNJ14 Gene

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