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Aliases for KCNJ5 Gene

Aliases for KCNJ5 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 2 3
  • GIRK4 3 4 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 5 2 3
  • Heart KATP Channel 3 4
  • IRK-4 3 4
  • KATP1 3 6
  • LQT13 3 6
  • CIR 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 5 4
  • G Protein-Activated Inward Rectifier Potassium Channel 4 3
  • Cardiac ATP-Sensitive Potassium Channel 3
  • Inward Rectifier K(+) Channel Kir3.4 4
  • Inward Rectifier K+ Channel KIR3.4 3
  • Cardiac Inward Rectifier 4
  • KIR3.4 3
  • GIRK-4 4
  • KATP-1 4

External Ids for KCNJ5 Gene

Previous GeneCards Identifiers for KCNJ5 Gene

  • GC11P130761
  • GC11P130273
  • GC11P128794
  • GC11P128298
  • GC11P128266
  • GC11P124711
  • GC11P128760

Summaries for KCNJ5 Gene

Entrez Gene Summary for KCNJ5 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. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ5 Gene

KCNJ5 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 5) is a Protein Coding gene. Diseases associated with KCNJ5 include long qt syndrome 13 and hyperaldosteronism, familial, type iii. Among its related pathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ5 Gene

  • This potassium channel is controlled by G proteins. 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 external barium

Tocris Summary for KCNJ5 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 (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ5 Gene

Genomics for KCNJ5 Gene

Regulatory Elements for KCNJ5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNJ5 Gene

Start:
128,891,356 bp from pter
End:
128,921,165 bp from pter
Size:
29,810 bases
Orientation:
Plus strand

Genomic View for KCNJ5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ5 Gene

Proteins for KCNJ5 Gene

  • Protein details for KCNJ5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48544-KCNJ5_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 4
    Protein Accession:
    P48544
    Secondary Accessions:
    • B2R744
    • Q6DK13
    • Q6DK14
    • Q92807

    Protein attributes for KCNJ5 Gene

    Size:
    419 amino acids
    Molecular mass:
    47668 Da
    Quaternary structure:
    • May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity).

neXtProt entry for KCNJ5 Gene

Proteomics data for KCNJ5 Gene at MOPED

Post-translational modifications for KCNJ5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ5 Gene

Domains for KCNJ5 Gene

Gene Families for KCNJ5 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

Suggested Antigen Peptide Sequences for KCNJ5 Gene

Graphical View of Domain Structure for InterPro Entry

P48544

UniProtKB/Swiss-Prot:

KCNJ5_HUMAN :
  • P48544
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 subfamily.
genes like me logo Genes that share domains with KCNJ5: view

Function for KCNJ5 Gene

Molecular function for KCNJ5 Gene

GENATLAS Biochemistry: potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 5,ATP-regulated,expressed in heart
UniProtKB/Swiss-Prot Function: This potassium channel is controlled by G proteins. 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 external barium

Gene Ontology (GO) - Molecular Function for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 contributes_to inward rectifier potassium channel activity IDA 12297500
GO:0005515 protein binding IPI 12297500
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS 8834003
genes like me logo Genes that share ontologies with KCNJ5: view

Phenotypes for KCNJ5 Gene

MGI mutant phenotypes for KCNJ5:
inferred from 1 alleles
GenomeRNAi human phenotypes for KCNJ5:
genes like me logo Genes that share phenotypes with KCNJ5: view

Animal Models for KCNJ5 Gene

MGI Knock Outs for KCNJ5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNJ5 Gene

Localization for KCNJ5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ5 Gene COMPARTMENTS Subcellular localization image for KCNJ5 gene
Compartment Confidence
plasma membrane 4
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 8834003
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ5: view

Pathways for KCNJ5 Gene

genes like me logo Genes that share pathways with KCNJ5: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport TAS 8834003
GO:0007268 synaptic transmission TAS --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IBA --
GO:0071805 potassium ion transmembrane transport --
genes like me logo Genes that share ontologies with KCNJ5: view

Compounds for KCNJ5 Gene

(5) Tocris Compounds for KCNJ5 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]
ML 133 hydrochloride Kir2 channel blocker [1222781-70-5]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]
VU 590 dihydrochloride Inhibitor of Kir1.1 (ROMK) and Kir7.1 [313505-85-0]

(1) HMDB Compounds for KCNJ5 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for KCNJ5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glyburide
  • Apo-Glibenclamide
10238-21-8 target inhibitor

(3) IUPHAR Ligand for KCNJ5 Gene

Ligand Type Action Affinity Pubmed IDs
PIP2 Activator Agonist 5.3
Na+ Channel blocker None
NIP-142 Pore Blocker Antagonist

(76) Novoseek inferred chemical compound relationships for KCNJ5 Gene

Compound -log(P) Hits PubMed IDs
katp 95.7 101
potassium 93.2 252
sulfonylurea 90.3 39
glibenclamide 89.3 41
diazoxide 87.2 8
genes like me logo Genes that share compounds with KCNJ5: view

Transcripts for KCNJ5 Gene

Unigene Clusters for KCNJ5 Gene

Potassium inwardly-rectifying channel, subfamily J, member 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for KCNJ5 Gene

GeneLoc Exon Structure for
KCNJ5
ECgene alternative splicing isoforms for
KCNJ5

Expression for KCNJ5 Gene

mRNA expression in normal human tissues for KCNJ5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ5 Gene

This gene is overexpressed in Adrenal Gland (21.0), Pituitary (6.4), and Pancreas (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNJ5 Gene

SOURCE GeneReport for Unigene cluster for KCNJ5 Gene Hs.632109

mRNA Expression by UniProt/SwissProt for KCNJ5 Gene

P48544-KCNJ5_HUMAN
Tissue specificity: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa.
genes like me logo Genes that share expressions with KCNJ5: view

In Situ Assay Products

Orthologs for KCNJ5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ5 35
  • 98.73 (n)
  • 99.05 (a)
KCNJ5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ5 35
  • 89.15 (n)
  • 93.78 (a)
KCNJ5 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ5 35
  • 89.18 (n)
  • 94.03 (a)
KCNJ5 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj5 35
  • 88.54 (n)
  • 94.27 (a)
Kcnj5 16
Kcnj5 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ5 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ5 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj5 35
  • 88.54 (n)
  • 93.79 (a)
chicken
(Gallus gallus)
Aves KCNJ5 35
  • 78.36 (n)
  • 86.16 (a)
KCNJ5 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ5 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kcnj5-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj5 35
  • 75.18 (n)
  • 84.14 (a)
Str.3898 35
zebrafish
(Danio rerio)
Actinopterygii kcnj5 35
  • 71.86 (n)
  • 75.43 (a)
kcnj5 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 51 (a)
Irk2 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-2 37
  • 44 (a)
irk-1 37
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToMany
Species with no ortholog for KCNJ5:
  • 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)
  • 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)

Evolution for KCNJ5 Gene

ENSEMBL:
Gene Tree for KCNJ5 (if available)
TreeFam:
Gene Tree for KCNJ5 (if available)

Paralogs for KCNJ5 Gene

genes like me logo Genes that share paralogs with KCNJ5: view

Variants for KCNJ5 Gene

Sequence variations from dbSNP and Humsavar for KCNJ5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs11912 -- 128,920,872(+) GTGCC(A/G)CGGAG utr-variant-3-prime
rs1060823 -- 128,917,738(+) AAGAG(A/C)AAGGA utr-variant-3-prime
rs1105756 -- 128,913,253(-) CCCTG(C/G)GTTCA intron-variant
rs1137929 -- 128,911,377(+) CCCCA(C/T)TGCCA missense, reference
rs1137937 -- 128,917,899(+) AAATA(C/G)AAAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNJ5 Gene

Variant ID Type Subtype PubMed ID
esv2656616 CNV Deletion 23128226
nsv468892 CNV Loss 19166990
esv2657032 CNV Deletion 23128226
esv2745242 CNV Deletion 23290073
esv2745243 CNV Deletion 23290073

Relevant External Links for KCNJ5 Gene

HapMap Linkage Disequilibrium report
KCNJ5
Human Gene Mutation Database (HGMD)
KCNJ5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ5 Gene

Disorders for KCNJ5 Gene

(2) OMIM Diseases for KCNJ5 Gene (600734)

UniProtKB/Swiss-Prot

KCNJ5_HUMAN
  • Long QT syndrome 13 (LQT13) [MIM:613485]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:20560207}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperaldosteronism 3 (FH3) [MIM:613677]: A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with familial hyperaldosteronism type 1 (glucocorticoid-remediable aldosteronism), patients with FH3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. {ECO:0000269 PubMed:21311022, ECO:0000269 PubMed:22203740, ECO:0000269 PubMed:22308486}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas (APA) and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527 and PubMed:22848660). {ECO:0000269 PubMed:22275527}.

(3) University of Copenhagen DISEASES for KCNJ5 Gene

(37) Novoseek inferred disease relationships for KCNJ5 Gene

Disease -log(P) Hits PubMed IDs
neonatal diabetes mellitus 81.4 5
hyperinsulinism 76.1 6
myocardial stunning 61 3
ischemia 60.7 11
hypoglycemia 53.8 1

Relevant External Links for KCNJ5

Genetic Association Database (GAD)
KCNJ5
Human Genome Epidemiology (HuGE) Navigator
KCNJ5
genes like me logo Genes that share disorders with KCNJ5: view

Publications for KCNJ5 Gene

  1. A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels. (PMID: 8558261) Spauschus A. … Karschin A. (J. Neurosci. 1996) 3 4 23
  2. Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction. (PMID: 20110696) Holmegard H.N. … Svendsen J.H. (Cardiology 2010) 3 23 48
  3. Co-expression of human Kir3 subunits can yield channels with different functional properties. (PMID: 10659995) Schoots O. … Van Tol H.H.M. (Cell. Signal. 1999) 3 4
  4. Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel. (PMID: 8834003) Iizuka M. … Kono T. (Recept. Channels 1995) 3 4
  5. Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. (PMID: 7590741) Tucker S.J. … Adelman J.P. (Genomics 1995) 3 23

Products for KCNJ5 Gene

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