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Aliases for KCNJ3 Gene

Aliases for KCNJ3 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 3 2 3 5
  • 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
  • GIRK1 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 Voltage-Gated Channel Subfamily J Member 3) is a Protein Coding gene. Diseases associated with KCNJ3 include Andersen Syndrome and Leber Congenital Amaurosis 16. Among its related pathways are Serotonergic synapse and GABAergic synapse. 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.

Gene Wiki entry for KCNJ3 Gene

No data available for CIViC summary , 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 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
GH02G155145 1.2 FANTOM5 dbSUPER 5 +447.6 447582 0.3 TBP PKNOX1 TBL1XR1 BMI1 RAD21 CBX5 RCOR1 RELB IKZF2 CREM KCNJ3 GC02P155169 RNU6-1001P
GH02G155152 0.7 dbSUPER 5 +456.1 456068 4.3 FOXA2 HLF DPF2 RAD21 FOXA1 ZNF217 MBD2 FOSL1 CTBP1 DIDO1 KCNJ3 GC02P155169 RNU6-1001P
GH02G154701 0.5 FANTOM5 dbSUPER 3.3 +3.5 3521 0.4 KCNJ3 GC02M154688 GC02M154702
GH02G155263 0.2 Ensembl 5 +565.7 565703 0.4 LOC100144595 ENSG00000238004 KCNJ3 GC02P155265 MTND2P20
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for KCNJ3 Gene

  • Glycosylation at posLast=119119
  • 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.

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:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 12297500
GO:0015467 G-protein activated inward rectifier potassium channel activity TAS --
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization IC 20560207
genes like me logo Genes that share ontologies with KCNJ3: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 KCNJ3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
endoplasmic reticulum 1
cytosol 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,IDA 20560207
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8804710
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051602 response to electrical stimulus IEA --
genes like me logo Genes that share ontologies with KCNJ3: view

Drugs & Compounds for KCNJ3 Gene

(22) 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 2137
Halothane Approved, Vet_approved Pharma Activator, Target, inhibitor 2
flupirtine Approved, Investigational Pharma Activator Analgesic agent 3
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

(3) Additional Compounds for KCNJ3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1

(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
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
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for KCNJ3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNJ3 Gene:

KCNJ3

SOURCE GeneReport for Unigene cluster for KCNJ3 Gene:

Hs.591606

Evidence on tissue expression from TISSUES for KCNJ3 Gene

  • Nervous system(4.7)
  • Heart(2.6)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with KCNJ3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ3 34 35
  • 95.41 (n)
cow
(Bos Taurus)
Mammalia KCNJ3 34 35
  • 95.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ3 35
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj3 34
  • 93.55 (n)
mouse
(Mus musculus)
Mammalia Kcnj3 34 16 35
  • 93.28 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNJ3 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ3 34 35
  • 82.52 (n)
lizard
(Anolis carolinensis)
Reptilia KCNJ3 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj3 34
  • 79.89 (n)
Str.12058 34
zebrafish
(Danio rerio)
Actinopterygii KCNJ3 (2 of 2) 35
  • 85 (a)
OneToMany
KCNJ3 (1 of 2) 35
  • 76 (a)
OneToMany
si:ch73-83c10.1 34
  • 74.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ir 36
  • 47 (a)
Irk2 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 36
  • 46 (a)
irk-2 36
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToOne
Species where no ortholog for KCNJ3 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)
  • 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
rs1000016690 -- 154,787,998(+) ACACA(C/T)AGACA intron-variant
rs1000032186 -- 154,748,632(+) CTATC(A/G)GTCAT intron-variant
rs1000041563 -- 154,726,362(+) AAATG(C/G/T)TCAAC intron-variant
rs1000094674 -- 154,742,763(+) ATACA(A/T)CAGAT intron-variant
rs1000100297 -- 154,813,546(+) TAGAA(C/T)ATAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7127n54 CNV loss 21841781
dgv747e214 CNV loss 21293372
esv3593001 CNV gain 21293372
nsv1003775 CNV loss 25217958
nsv2984 CNV insertion 18451855
nsv583426 CNV loss 21841781
nsv7331 OTHER inversion 18451855
nsv834429 CNV gain 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ3

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

Disorders for KCNJ3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
andersen syndrome
  • andersen cardiodysrhythmic periodic paralysis
leber congenital amaurosis 16
  • lca16
maturity-onset diabetes of the young
  • mason-type diabetes
- 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. 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 22 46 64
  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 22 64
  3. 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 22 64
  4. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  5. 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 22 64

Products for KCNJ3 Gene

Sources for KCNJ3 Gene

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