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Aliases for KCNJ3 Gene

Aliases for KCNJ3 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 3 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 3 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 3 3 5
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 3 3 4
  • Inward Rectifier K(+) Channel Kir3.1 3 4
  • GIRK-1 3 4
  • GIRK1 3 4
  • Potassium Inwardly-Rectifying Channel Subfamily J Member 3 Splice Variant 1e 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 Voltage-Gated Channel Subfamily J Member 3) is a Protein Coding gene. Diseases associated with KCNJ3 include Andersen Syndrome and Sinoatrial Node Disease. Among its related pathways are Inwardly rectifying K+ channels 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 KCNJ14.

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.

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

Enhancers for KCNJ3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNJ3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNJ3 Gene

Chromosome:
2
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

Genes around KCNJ3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Glycosylation at Asn 119
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNJ3 Gene

No data available for DME Specific Peptides for KCNJ3 Gene

Domains & Families for KCNJ3 Gene

Gene Families for KCNJ3 Gene

Graphical View of Domain Structure for InterPro Entry

P48549

UniProtKB/Swiss-Prot:

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

Animal Models for KCNJ3 Gene

MGI Knock Outs for KCNJ3:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
endoplasmic reticulum 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:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with KCNJ3: view

Pathways & Interactions for KCNJ3 Gene

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

SIGNOR curated interactions for KCNJ3 Gene

Other effect:

Gene Ontology (GO) - Biological Process for KCNJ3 Gene

None

Drugs & Compounds for KCNJ3 Gene

(20) Drugs for KCNJ3 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 1924
Halothane Approved Pharma Activator, Target, inhibitor 1
flupirtine Approved, Investigational Pharma Activator 3
Diazoxide Approved Pharma Activator Blocks desensitization of AMPA receptors 21
Minoxidil Approved Pharma Activator Kir6 channel (KATP) opener 34

(5) Additional Compounds for KCNJ3 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
P1075
60559-98-0
ZM 226600
147695-92-9

(5) Tocris Compounds for KCNJ3 Gene

Compound Action Cas Number
Cromakalim Kir6 (KATP) channel opener 94470-67-4
Diazoxide Blocks desensitization of AMPA receptors 364-98-7
Minoxidil Kir6 channel (KATP) opener 38304-91-5
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 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 (x10.3), Brain - Cerebellum (x7.8), Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.5), and Heart - Atrial Appendage (x4.2).

Protein differential expression in normal tissues from HIPED for KCNJ3 Gene

This gene is overexpressed in Heart (44.6), Cerebral cortex (14.7), and Urine (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNJ3: view

Protein tissue co-expression partners for KCNJ3 Gene

Primer Products

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
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
rat
(Rattus norvegicus)
Mammalia Kcnj3 35
  • 93.55 (n)
  • 99 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ3 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ3 36
  • 100 (a)
OneToOne
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 si:ch73-83c10.1 35
  • 74.86 (n)
  • 85.66 (a)
KCNJ3 (1 of 2) 36
  • 76 (a)
OneToMany
KCNJ3 (2 of 2) 36
  • 85 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 47 (a)
Irk2 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 37
  • 46 (a)
irk-2 37
  • 42 (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

(16) 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
rs16838016 - 154,698,894(+) GCCCA(A/G)GAAGA reference, missense
rs717175 -- 154,792,083(+) ACTGC(C/T)GTCAT intron-variant
rs717244 -- 154,758,054(+) TATTG(A/G)ACATA intron-variant
rs1550798 -- 154,822,325(-) CACAG(A/T)TAAAA intron-variant
rs1813436 -- 154,820,374(-) atttg(G/T)tctat 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

Variation tolerance for KCNJ3 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ3 Gene

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

(4) MalaCards diseases for KCNJ3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
andersen syndrome
  • andersen-tawil syndrome
sinoatrial node disease
  • sa node
maturity-onset diabetes of the young
  • mason-type diabetes
heart conduction disease
  • heart rhythm disease
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNJ3

Genetic Association Database (GAD)
KCNJ3
Human Genome Epidemiology (HuGE) Navigator
KCNJ3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ3
genes like me logo Genes that share disorders with KCNJ3: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Molecular mechanism underlying ethanol activation of G-protein-gated inwardly rectifying potassium channels. (PMID: 24145411) Bodhinathan K. … Slesinger P.A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 25 26
  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
  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. Alcoholism: a systems approach from molecular physiology to addictive behavior. (PMID: 19342616) Spanagel R. (Physiol. Rev. 2009) 25 26

Products for KCNJ3 Gene

Sources for KCNJ3 Gene

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