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Aliases for KCNJ5 Gene

Aliases for KCNJ5 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 5 2 3
  • Heart KATP Channel 3 4
  • IRK-4 3 4
  • GIRK4 3 4
  • CIR 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 5 4
  • 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
  • KATP1 3
  • LQT13 3

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.

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

Chromosome:
11
Start:
128,891,356 bp from pter
End:
128,921,163 bp from pter
Size:
29,808 bases
Orientation:
Plus strand

Genomic View for KCNJ5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KCNJ5 Gene

Domains & Families for KCNJ5 Gene

Suggested Antigen Peptide Sequences for KCNJ5 Gene

Graphical View of Domain Structure for InterPro Entry

P48544

UniProtKB/Swiss-Prot:

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

Animal Models for KCNJ5 Gene

MGI Knock Outs for KCNJ5:

Animal Model Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNJ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0008076 voltage-gated potassium channel complex TAS 8834003
GO:0009897 external side of plasma membrane IEA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ5: view

Pathways & Interactions 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 --
genes like me logo Genes that share ontologies with KCNJ5: view

No data available for SIGNOR curated interactions for KCNJ5 Gene

Drugs & Compounds for KCNJ5 Gene

(59) Drugs for KCNJ5 Gene - From: NovoSeek, HMDB, ApexBio, IUPHAR, DGIdb, DrugBank, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Inhibition, Inhibitor, Target, inhibitor Kir6 (KATP) channel blocker 100
Minoxidil Approved Pharma Activator Kir6 channel (KATP) opener 33
Ethanol Approved Pharma Target 1708
Glipizide Approved Pharma 38
Nateglinide Approved, Investigational Pharma Insulin secretagog agent 23

(34) Additional Compounds for KCNJ5 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ZM 226600
147695-92-9
5-Hydroxydecanoate
adenylate
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Aprikalim
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:

miRNA Products

Inhibitory RNA Products

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

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 (x21.0), Pituitary (x6.4), and Pancreas (x5.1).

Protein differential expression in normal tissues from HIPED for KCNJ5 Gene

This gene is overexpressed in Heart (48.5) and Pancreas (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNJ5: view

Protein tissue co-expression partners for KCNJ5 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia KCNJ5 35
  • 98.73 (n)
  • 99.05 (a)
KCNJ5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj5 35
  • 88.54 (n)
  • 93.79 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ5 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ5 36
  • 90 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj5 35
  • 75.18 (n)
  • 84.14 (a)
Str.3898 35
African clawed frog
(Xenopus laevis)
Amphibia kcnj5-A 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-1 37
  • 45 (a)
irk-2 37
  • 44 (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
rs1137937 -- 128,917,899(+) AAATA(C/G)AAAAA utr-variant-3-prime
rs1317470 -- 128,912,319(+) GTGGC(A/G)CAGGC intron-variant

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

Variation tolerance for KCNJ5 Gene

Residual Variation Intolerance Score: 10.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.44% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(20) MalaCards diseases for KCNJ5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 13
  • lqt 13
hyperaldosteronism, familial, type iii
  • familial hyperaldosteronism type iii
andersen syndrome
  • chylomicron retention disease
familial hyperaldosteronism
  • fh
dend syndrome
  • developmental delay-epilepsy-neonatal diabetes syndrome
- elite association
Search KCNJ5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ5_HUMAN
  • 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.
  • 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.
  • 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}.

Relevant External Links for KCNJ5

Genetic Association Database (GAD)
KCNJ5
Human Genome Epidemiology (HuGE) Navigator
KCNJ5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ5
genes like me logo Genes that share disorders with KCNJ5: view

No data available for Genatlas for KCNJ5 Gene

Publications for KCNJ5 Gene

  1. ATP-binding cassette proteins involved in glucose and lipid homeostasis. (PMID: 20460728) Matsuo M. (Biosci. Biotechnol. Biochem. 2010) 23 67
  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) 23 67
  3. Regulation of insulin secretion: role of mitochondrial signalling. (PMID: 20225132) Jitrapakdee S. … MacDonald M.J. (Diabetologia 2010) 23 67
  4. A novel mitochondrial K(ATP) channel assay. (PMID: 20185796) Wojtovich A.P. … Brookes P.S. (Circ. Res. 2010) 23 67
  5. Central venous hypoxemia is a determinant of human atrial ATP-sensitive potassium channel expression: evidence for a novel hypoxia-inducible factor 1alpha-Forkhead box class O signaling pathway. (PMID: 20212266) Raeis V. … Baertschi A.J. (Hypertension 2010) 23 67

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