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Aliases for KCNJ3 Gene

Aliases for KCNJ3 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 3 2 3
  • GIRK1 3 4 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 3 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 3 3 4
  • Inward Rectifier K(+) Channel Kir3.1 3 4
  • GIRK-1 3 4
  • Potassium Inwardly-Rectifying Channel Subfamily J Member 3 Splice Variant 1e 3
  • G Protein-Activated Inward Rectifier Potassium Channel 1 3
  • Inward Rectifier K+ Channel KIR3.1 3
  • KIR3.1 3
  • KGA 3

External Ids for KCNJ3 Gene

Previous GeneCards Identifiers for KCNJ3 Gene

  • GC02P153486
  • GC02P154084
  • GC02P155519
  • GC02P155757
  • GC02P155380
  • GC02P155263
  • GC02P147441
  • GC02P155555

Summaries for KCNJ3 Gene

Entrez Gene Summary for KCNJ3 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 and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]

GeneCards Summary for KCNJ3 Gene

KCNJ3 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 3) is a Protein Coding gene. Diseases associated with KCNJ3 include pancreas adenocarcinoma. Among its related pathways are G-Beta Gamma Signaling and G Protein Signaling 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 KCNJ5.

UniProtKB/Swiss-Prot for KCNJ3 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. This receptor plays a crucial role in regulating the heartbeat

Tocris Summary for KCNJ3 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 KCNJ3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ3 Gene

Genomics for KCNJ3 Gene

Regulatory Elements for KCNJ3 Gene

Genomic Location for KCNJ3 Gene

Start:
154,698,299 bp from pter
End:
154,858,352 bp from pter
Size:
160,054 bases
Orientation:
Plus strand

Genomic View for KCNJ3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ3 Gene

Proteins for KCNJ3 Gene

  • Protein details for KCNJ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48549-KCNJ3_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 1
    Protein Accession:
    P48549
    Secondary Accessions:
    • B4DEW7
    • Q8TBI0

    Protein attributes for KCNJ3 Gene

    Size:
    501 amino acids
    Molecular mass:
    56603 Da
    Quaternary structure:
    • Associates with GIRK2, GIRK3 or GIRK4 to form a G-protein activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity).

    Alternative splice isoforms for KCNJ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNJ3 Gene

Proteomics data for KCNJ3 Gene at MOPED

Post-translational modifications for KCNJ3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ3 Gene

Domains for KCNJ3 Gene

Gene Families for KCNJ3 Gene

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

Graphical View of Domain Structure for InterPro Entry

P48549

UniProtKB/Swiss-Prot:

KCNJ3_HUMAN :
  • P48549
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily.
genes like me logo Genes that share domains with KCNJ3: view

Function for KCNJ3 Gene

Molecular function for KCNJ3 Gene

GENATLAS Biochemistry: potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 3,expressed in heart,unlikely to be involved in juvenile myoclonic epilepsy
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. This receptor plays a crucial role in regulating the heartbeat

Gene Ontology (GO) - Molecular Function for KCNJ3 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 IEA --
genes like me logo Genes that share ontologies with KCNJ3: view

Phenotypes for KCNJ3 Gene

MGI mutant phenotypes for KCNJ3:
inferred from 1 alleles
GenomeRNAi human phenotypes for KCNJ3:
genes like me logo Genes that share phenotypes with KCNJ3: view

Animal Models for KCNJ3 Gene

MGI Knock Outs for KCNJ3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNJ3 Gene

Localization for KCNJ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ3 Gene COMPARTMENTS Subcellular localization image for KCNJ3 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNJ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 8804710
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with KCNJ3: view

Pathways for KCNJ3 Gene

genes like me logo Genes that share pathways with KCNJ3: view

Gene Ontology (GO) - Biological Process for KCNJ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport TAS 8804710
GO:0007268 synaptic transmission TAS --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IBA --
GO:0051602 response to electrical stimulus IEA --
genes like me logo Genes that share ontologies with KCNJ3: view

Compounds for KCNJ3 Gene

(5) Tocris Compounds for KCNJ3 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 KCNJ3 Gene

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

(1) Drugbank Compounds for KCNJ3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Halothane
  • 2-Bromo-2-Chloro-1,1,1-Trifluoroethane
151-67-7 target inhibitor

(3) IUPHAR Ligand for KCNJ3 Gene

Ligand Type Action Affinity Pubmed IDs
PIP2 Activator Agonist 5.3
Na+ Channel blocker None
Ba2+ Pore Blocker Antagonist

(10) Novoseek inferred chemical compound relationships for KCNJ3 Gene

Compound -log(P) Hits PubMed IDs
carbetapentane 80.2 1
(+)-3-(3-hydroxyphenyl)-n-(1-propyl)piperidine 79.2 1
potassium 65.1 18
naloxone 36.5 1
clozapine 33.2 6
genes like me logo Genes that share compounds with KCNJ3: view

Transcripts for KCNJ3 Gene

Unigene Clusters for KCNJ3 Gene

Potassium inwardly-rectifying channel, subfamily J, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ3 Gene

No ASD Table

Relevant External Links for KCNJ3 Gene

GeneLoc Exon Structure for
KCNJ3
ECgene alternative splicing isoforms for
KCNJ3

Expression for KCNJ3 Gene

mRNA expression in normal human tissues for KCNJ3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (10.3), Brain - Cerebellum (7.8), Brain - Frontal Cortex (BA9) (5.3), Brain - Anterior cingulate cortex (BA24) (4.5), and Heart - Atrial Appendage (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNJ3 Gene

SOURCE GeneReport for Unigene cluster for KCNJ3 Gene Hs.591606

genes like me logo Genes that share expressions with KCNJ3: view

No data available for mRNA Expression by UniProt/SwissProt for KCNJ3 Gene

Orthologs for KCNJ3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ3 35
  • 95.08 (n)
  • 99.2 (a)
KCNJ3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ3 35
  • 95.41 (n)
  • 99.4 (a)
KCNJ3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj3 35
  • 93.28 (n)
  • 99 (a)
Kcnj3 16
Kcnj3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ3 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj3 35
  • 93.55 (n)
  • 99 (a)
chicken
(Gallus gallus)
Aves KCNJ3 35
  • 82.52 (n)
  • 92.68 (a)
KCNJ3 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ3 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj3 35
  • 79.89 (n)
  • 92.84 (a)
Str.12058 35
zebrafish
(Danio rerio)
Actinopterygii KCNJ3 (1 of 2) 36
  • 76 (a)
OneToMany
KCNJ3 (2 of 2) 36
  • 85 (a)
OneToMany
si:ch73-83c10.1 35
  • 74.86 (n)
  • 85.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 47 (a)
Irk2 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-2 37
  • 42 (a)
irk-1 37
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for KCNJ3:
  • 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)
  • 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 KCNJ3 Gene

ENSEMBL:
Gene Tree for KCNJ3 (if available)
TreeFam:
Gene Tree for KCNJ3 (if available)

Paralogs for KCNJ3 Gene

Selected SIMAP similar genes for KCNJ3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KCNJ3: view

Variants for KCNJ3 Gene

Sequence variations from dbSNP and Humsavar for KCNJ3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs717175 -- 154,792,083(+) ACTGC(C/T)GTCAT intron-variant
rs717244 -- 154,758,054(+) TATTG(A/G)ACATA intron-variant
rs985091 -- 154,772,998(+) GTGCT(A/G)TAAGA intron-variant
rs985092 -- 154,773,049(+) GCCCC(A/G)AATAG intron-variant
rs985535 -- 154,776,423(+) TGTTC(A/G)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ3 Gene

Variant ID Type Subtype PubMed ID
nsv7331 OTHER Inversion 18451855
nsv834429 CNV Gain 17160897
nsv875306 CNV Loss 21882294
nsv875307 CNV Loss 21882294
nsv875308 CNV Loss 21882294
nsv2984 CNV Insertion 18451855

Relevant External Links for KCNJ3 Gene

HapMap Linkage Disequilibrium report
KCNJ3
Human Gene Mutation Database (HGMD)
KCNJ3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ3 Gene

Disorders for KCNJ3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KCNJ3 Gene including...

Search for KCNJ3 Gene in MalaCards »

(6) Novoseek inferred disease relationships for KCNJ3 Gene

Disease -log(P) Hits PubMed IDs
insulinoma 32.3 1
adenocarcinoma 0.726 4
breast cancer 0 7
metastasis 0 4
tumors 0 3

Relevant External Links for KCNJ3

Genetic Association Database (GAD)
KCNJ3
Human Genome Epidemiology (HuGE) Navigator
KCNJ3
genes like me logo Genes that share disorders with KCNJ3: view

No data available for UniProtKB/Swiss-Prot for KCNJ3 Gene

Publications for KCNJ3 Gene

  1. Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. (PMID: 8088798) Stoffel M. … Bell G.I. (Genomics 1994) 2 3 23
  2. Cloning of a G protein-activated inwardly rectifying potassium channel from human cerebellum. (PMID: 8804710) Schoots O. … van Tol H.H.M. (Brain Res. Mol. Brain Res. 1996) 3 4 23
  3. 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
  4. Cloning and characterisation of GIRK1 variants resulting from alternative RNA editing of the KCNJ3 gene transcript in a human breast cancer cell line. (PMID: 20512921) Wagner V. … Schreibmayer W. (J. Cell. Biochem. 2010) 3 23
  5. A recombinant inwardly rectifying potassium channel coupled to GTP- binding proteins. (PMID: 8868049) Chan K.W. … Logothetis D.E. (J. Gen. Physiol. 1996) 3 4

Products for KCNJ3 Gene

Sources for KCNJ3 Gene

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