Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNJ4 Gene

Aliases for KCNJ4 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 4 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 4 2 3
  • Inward Rectifier K(+) Channel Kir2.3 3 4
  • HIRK2 3 4
  • IRK-3 3 4
  • HRK1 3 4
  • IRK3 3 4
  • HIR 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 4 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 4 4
  • Hippocampal Inward Rectifier Potassium Channel 3
  • Inward Rectifier Potassium Channel 4 3
  • Hippocampal Inward Rectifier 4
  • Kir2.3 3

External Ids for KCNJ4 Gene

Previous GeneCards Identifiers for KCNJ4 Gene

  • GC22M035436
  • GC22M037065
  • GC22M037146
  • GC22M038822
  • GC22M021788

Summaries for KCNJ4 Gene

Entrez Gene Summary for KCNJ4 Gene

  • Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ4 Gene

KCNJ4 (Potassium Voltage-Gated Channel Subfamily J Member 4) is a Protein Coding gene. Diseases associated with KCNJ4 include Andersen Syndrome. Among its related pathways are Cardiac conduction and Inwardly rectifying K+ channels. GO annotations related to this gene include PDZ domain binding and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ12.

UniProtKB/Swiss-Prot for KCNJ4 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. Can be blocked by extracellular barium and cesium (By similarity).

Tocris Summary for KCNJ4 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 KCNJ4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ4 Gene

Genomics for KCNJ4 Gene

Regulatory Elements for KCNJ4 Gene

Enhancers for KCNJ4 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
GH22G038309 1.8 FANTOM5 ENCODE dbSUPER 10.7 +141.0 140963 11.9 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TMEM184B PICK1 MAFF KCNJ4 KDELR3 SOX10 POLR2F PDXP GGA1 SUN2
GH22G038294 1.7 Ensembl ENCODE dbSUPER 10.4 +154.3 154257 12.5 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 ZNF416 ZNF263 SP3 TBX21 CBX7 ENSG00000230149 CBX6 ENSG00000273076 NPTXR TMEM184B ENSG00000272669 ENSG00000225450 APOBEC3D PRDX3P1
GH22G038502 1.4 ENCODE dbSUPER 12.3 -50.5 -50514 5.6 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SNORD83B ENSG00000228274 ENSG00000230149 ENSG00000273076 SNORD83A JOSD1 ENSG00000272669 ENSG00000225450 KDELR3 KCNJ4
GH22G038282 1.6 Ensembl ENCODE dbSUPER 10.5 +171.1 171091 3.3 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 MLX SIN3A ARID4B DMAP1 FEZF1 ZNF2 MAFF PRDX3P1 PLA2G6 JOSD1 KCNJ4 KDELR3 PICK1 CSNK1E TMEM184B ANKRD54
GH22G038335 1.3 Ensembl ENCODE dbSUPER 11 +119.0 118998 2.3 HDGF ZSCAN4 RAD21 ZEB1 GLIS2 FOS ZNF263 ZNF654 SP3 CBFB TMEM184B KCNJ4 KDELR3 CSNK1E GC22M041381 GC22M041466 GC22M041649 PIR43912
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNJ4 Gene

Chromosome:
22
Start:
38,426,327 bp from pter
End:
38,455,199 bp from pter
Size:
28,873 bases
Orientation:
Minus strand

Genomic View for KCNJ4 Gene

Genes around KCNJ4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ4 Gene

Proteins for KCNJ4 Gene

  • Protein details for KCNJ4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48050-KCNJ4_HUMAN
    Recommended name:
    Inward rectifier potassium channel 4
    Protein Accession:
    P48050
    Secondary Accessions:
    • Q14D44

    Protein attributes for KCNJ4 Gene

    Size:
    445 amino acids
    Molecular mass:
    49500 Da
    Quaternary structure:
    • Homomultimeric and heteromultimeric association with KCNJ2 and KCNJ12. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Interacts with TAX1BP3. TAX1BP3 competes with LIN7 family members for KCNJ4 binding.

    Three dimensional structures from OCA and Proteopedia for KCNJ4 Gene

neXtProt entry for KCNJ4 Gene

Post-translational modifications for KCNJ4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ4 Gene

Domains & Families for KCNJ4 Gene

Gene Families for KCNJ4 Gene

Suggested Antigen Peptide Sequences for KCNJ4 Gene

Graphical View of Domain Structure for InterPro Entry

P48050

UniProtKB/Swiss-Prot:

KCNJ4_HUMAN :
  • The Val/Gly/Ala/Pro stretch may have a functional role in the conductance or permeation properties.
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily.
Domain:
  • The Val/Gly/Ala/Pro stretch may have a functional role in the conductance or permeation properties.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ4 subfamily.
genes like me logo Genes that share domains with KCNJ4: view

Function for KCNJ4 Gene

Molecular function for KCNJ4 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,expressed in heart
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. Can be blocked by extracellular barium and cesium (By similarity).

Gene Ontology (GO) - Molecular Function for KCNJ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS 8016146
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 16855024
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS --
GO:0030165 PDZ domain binding IPI 16855024
genes like me logo Genes that share ontologies with KCNJ4: view
genes like me logo Genes that share phenotypes with KCNJ4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNJ4 Gene

Localization for KCNJ4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ4 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane. Note=TAX1BP3 binding promotes dissociation of KCNJ4 from LIN7 famaly members and KCNJ4 internalization. {ECO:0000250}.

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 KCNJ4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNJ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 8051145
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 16855024
genes like me logo Genes that share ontologies with KCNJ4: view

Pathways & Interactions for KCNJ4 Gene

genes like me logo Genes that share pathways with KCNJ4: view

Gene Ontology (GO) - Biological Process for KCNJ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8051145
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ4: view

No data available for SIGNOR curated interactions for KCNJ4 Gene

Drugs & Compounds for KCNJ4 Gene

(23) Drugs for KCNJ4 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
spermine Approved Nutra Full agonist, Agonist 0
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 114
Nicorandil Approved Pharma Activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(4) Additional Compounds for KCNJ4 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator
H<sup>+</sup> (intracellular)
Antagonist, Gating inhibitor

(5) Tocris Compounds for KCNJ4 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) 94535-50-9
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(1) ApexBio Compounds for KCNJ4 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker 7647-17-8
genes like me logo Genes that share compounds with KCNJ4: view

Drug Products

Transcripts for KCNJ4 Gene

mRNA/cDNA for KCNJ4 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(37) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ4 Gene

Potassium inwardly-rectifying channel, subfamily J, member 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ4 Gene

No ASD Table

Relevant External Links for KCNJ4 Gene

GeneLoc Exon Structure for
KCNJ4
ECgene alternative splicing isoforms for
KCNJ4

Expression for KCNJ4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ4 Gene

This gene is overexpressed in Brain - Cortex (x9.2), Brain - Frontal Cortex (BA9) (x7.7), Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Putamen (basal ganglia) (x5.2), and Brain - Nucleus accumbens (basal ganglia) (x5.0).

Protein differential expression in normal tissues from HIPED for KCNJ4 Gene

This gene is overexpressed in Frontal cortex (53.8) and Fetal heart (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ4 Gene



Protein tissue co-expression partners for KCNJ4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ4 Gene:

KCNJ4

SOURCE GeneReport for Unigene cluster for KCNJ4 Gene:

Hs.32505

mRNA Expression by UniProt/SwissProt for KCNJ4 Gene:

P48050-KCNJ4_HUMAN
Tissue specificity: Heart, skeletal muscle, and several different brain regions including the hippocampus.

Evidence on tissue expression from TISSUES for KCNJ4 Gene

  • Nervous system(4.5)
  • Muscle(2.4)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with KCNJ4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ4 Gene

Orthologs for KCNJ4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ4 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia KCNJ4 34 35
  • 94.08 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNJ4 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ4 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj4 34
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Kcnj4 34 16 35
  • 89.56 (n)
chicken
(Gallus gallus)
Aves CKIR2.3 35
  • 84 (a)
OneToOne
KCNJ4 34
  • 80.97 (n)
lizard
(Anolis carolinensis)
Reptilia KCNJ4 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj4 34
  • 71.55 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331864 34
  • 66.67 (n)
KCNJ4 35
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ir 36
  • 51 (a)
Irk2 36
  • 49 (a)
Irk3 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 36 35
  • 48 (a)
irk-2 36 35
  • 47 (a)
Species where no ortholog for KCNJ4 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)
  • cow (Bos Taurus)
  • 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)
  • 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 KCNJ4 Gene

ENSEMBL:
Gene Tree for KCNJ4 (if available)
TreeFam:
Gene Tree for KCNJ4 (if available)

Paralogs for KCNJ4 Gene

(16) SIMAP similar genes for KCNJ4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNJ4: view

Variants for KCNJ4 Gene

Sequence variations from dbSNP and Humsavar for KCNJ4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs193920820 Uncertain significance 38,427,547(-) CGGTG(C/T)GCGAC intron-variant, reference, missense
rs1000189807 -- 38,436,695(+) GAGCA(C/T)TGAGC intron-variant, nc-transcript-variant
rs1000271425 -- 38,454,849(+) GCGCC(G/T)GGCAG intron-variant
rs1000299562 -- 38,434,727(+) CAGGC(-/CTCA)CTGTC intron-variant, nc-transcript-variant
rs1000382819 -- 38,448,796(+) ATGCA(A/G)CCGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ4 Gene

Variant ID Type Subtype PubMed ID
esv3647730 CNV loss 21293372
esv3647731 CNV loss 21293372
esv3647732 CNV gain 21293372
nsv1058338 CNV gain 25217958
nsv1060077 CNV gain 25217958
nsv817994 CNV gain 17921354
nsv819157 CNV gain 19587683
nsv834195 CNV loss 17160897

Variation tolerance for KCNJ4 Gene

Residual Variation Intolerance Score: 6.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ4 Gene

Disorders for KCNJ4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNJ4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
andersen syndrome
  • andersen cardiodysrhythmic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNJ4

Genetic Association Database (GAD)
KCNJ4
Human Genome Epidemiology (HuGE) Navigator
KCNJ4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ4
genes like me logo Genes that share disorders with KCNJ4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNJ4 Gene

Publications for KCNJ4 Gene

  1. Primary structure and characterization of a small-conductance inwardly rectifying potassium channel from human hippocampus. (PMID: 8016146) Perier F. … Vandenberg C.A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  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 Clin Pract 2010) 3 46 64
  3. Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1. (PMID: 19635485) Yan X. … Long J. (J. Mol. Biol. 2009) 3 4 64
  4. Novel insights into the structural basis of pH-sensitivity in inward rectifier K+ channels Kir2.3. (PMID: 18453743) Ureche O.N. … Seebohm G. (Cell. Physiol. Biochem. 2008) 3 22 64
  5. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3 64

Products for KCNJ4 Gene

Sources for KCNJ4 Gene

Content
Loading form....