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KCNJ9 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 9

GCID:
GC01P160079
GIFtS:
58
Genes Participants
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Aliases for KCNJ9 Gene

Aliases for KCNJ9 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 9 2 3 5
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 9 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 9 3 4
  • Inward Rectifier K(+) Channel Kir3.3 3 4
  • GIRK-3 3 4
  • GIRK3 3 4
  • G Protein-Activated Inward Rectifier Potassium Channel 3 3
  • G Protein-Coupled Inward Rectifier Potassium Channel 3
  • Inwardly Rectifier K+ Channel KIR3.3 3
  • KIR3.3 3

External Ids for KCNJ9 Gene

Previous GeneCards Identifiers for KCNJ9 Gene

  • GC01P157843
  • GC01P155783
  • GC01P156829
  • GC01P157268
  • GC01P156864
  • GC01P158317
  • GC01P160051
  • GC01P131408

Summaries for KCNJ9 Gene

Entrez Gene Summary for KCNJ9 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 associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ9 Gene

KCNJ9 (Potassium Voltage-Gated Channel Subfamily J Member 9) is a Protein Coding gene. Diseases associated with KCNJ9 include Corneal Dystrophy, Schnyder Type. Among its related pathways are Serotonergic synapse and GABAergic synapse. GO annotations related to this gene include PDZ domain binding and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ6.

UniProtKB/Swiss-Prot for KCNJ9 Gene

  • This receptor 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 (By similarity).

Tocris Summary for KCNJ9 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 KCNJ9 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ9 Gene

Genomics for KCNJ9 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNJ9 Gene

Enhancers for KCNJ9 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
GH01G160085 1.4 FANTOM5 ENCODE dbSUPER 15.4 +6.5 6495 1.4 ELF3 HDGF CTCF PKNOX1 ATF1 RB1 ARID4B RAD21 GATA3 GATA2 ATP1A2 KCNJ9 PIGM IGSF8 ATP1A4 KCNJ10 PEA15
GH01G160046 1.6 Ensembl ENCODE dbSUPER 11.3 -33.1 -33148 1.2 PKNOX1 CREB3L1 ARNT SIN3A ZNF766 CBX5 ZNF143 KLF13 SP5 REST KCNJ9 IGSF8 ENSG00000260766 PIGM ENSG00000225279
GH01G160123 1.5 Ensembl ENCODE dbSUPER 10.2 +46.5 46469 6.8 HDGF PKNOX1 FOXA2 ATF1 YY1 GLIS2 KLF7 FOS DEK ZNF263 ATP1A4 IGSF8 PEA15 CASQ1 KCNJ9 PIGM ATP1A2 GC01M160128 GC01P160126 GC01P160125
GH01G160291 1.4 ENCODE dbSUPER 10.2 +212.1 212081 1.7 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC NCSTN ENSG00000228606 CASQ1 COPA IGSF8 KCNJ9 RNU4-42P NHLH1 SUMO1P3
GH01G160104 1.1 Ensembl ENCODE dbSUPER 11.3 +24.7 24704 1.3 SOX13 SAP130 RARA ZNF121 TCF7 NR2F6 BCL6 SMAD4 KDM1A SPI1 KCNJ9 CASQ1 PEA15 DCAF8 PEX19 PIGM ATP1A4 ENSG00000225279 KCNJ10 IGSF8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ9 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCNJ9 gene promoter:

Genomic Location for KCNJ9 Gene

Chromosome:
1
Start:
160,079,953 bp from pter
End:
160,090,563 bp from pter
Size:
10,611 bases
Orientation:
Plus strand

Genomic View for KCNJ9 Gene

Genes around KCNJ9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KCNJ9 Gene

Proteins for KCNJ9 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KCNJ9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92806-KCNJ9_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 3
    Protein Accession:
    Q92806
    Secondary Accessions:
    • Q5JW75

    Protein attributes for KCNJ9 Gene

    Size:
    393 amino acids
    Molecular mass:
    44020 Da
    Quaternary structure:
    • Associates with GIRK1 to form a G-protein-activated heteromultimer pore-forming unit. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (By similarity).

neXtProt entry for KCNJ9 Gene

Protein Expression for KCNJ9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNJ9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ9 Gene

Domains & Families for KCNJ9 Gene

Gene Families for KCNJ9 Gene

HGNC:
IUPHAR :

Protein Domains for KCNJ9 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92806

UniProtKB/Swiss-Prot:

KCNJ9_HUMAN :
  • The PDZ-binding motif specifically binds the PDZ domain of SNX27: the specificity for SNX27 is provided by the 2 residues located upstream (Glu-388 and Ser-389) of the PDZ-binding motif.
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ9 subfamily.
Domain:
  • The PDZ-binding motif specifically binds the PDZ domain of SNX27: the specificity for SNX27 is provided by the 2 residues located upstream (Glu-388 and Ser-389) of the PDZ-binding motif.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ9 subfamily.
genes like me logo Genes that share domains with KCNJ9: view

Function for KCNJ9 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for KCNJ9 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 9,expressed in brain
UniProtKB/Swiss-Prot Function:
This receptor 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 (By similarity).

Gene Ontology (GO) - Molecular Function for KCNJ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IBA --
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 --
genes like me logo Genes that share ontologies with KCNJ9: view
genes like me logo Genes that share phenotypes with KCNJ9: view

Animal Models for KCNJ9 Gene

MGI Knock Outs for KCNJ9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNJ9 Gene

Localization for KCNJ9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ9 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 KCNJ9 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNJ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ9: view

Pathways & Interactions for KCNJ9 Gene

genes like me logo Genes that share pathways with KCNJ9: view

Gene Ontology (GO) - Biological Process for KCNJ9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ9: view

No data available for SIGNOR curated interactions for KCNJ9 Gene

Drugs & Compounds for KCNJ9 Gene

Products:

  1. Drug

(10) Drugs for KCNJ9 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
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
PIP<sub>2</sub> Pharma Antagonist 0

(1) Additional Compounds for KCNJ9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for KCNJ9 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 KCNJ9: view

Transcripts for KCNJ9 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCNJ9 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ9 Gene

Potassium inwardly-rectifying channel, subfamily J, member 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ9 Gene

No ASD Table

Relevant External Links for KCNJ9 Gene

GeneLoc Exon Structure for
KCNJ9
ECgene alternative splicing isoforms for
KCNJ9

Expression for KCNJ9 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ9 Gene

mRNA expression in normal human tissues for KCNJ9 Gene
mRNA expression by BioGPS for KCNJ9 GenemRNA expression by GTEx for KCNJ9 Gene

mRNA differential expression in normal tissues according to GTEx for KCNJ9 Gene

This gene is overexpressed in Brain - Cortex (x6.1), Brain - Cerebellar Hemisphere (x5.6), Brain - Frontal Cortex (BA9) (x5.4), Brain - Cerebellum (x5.3), and Brain - Anterior cingulate cortex (BA24) (x4.8).

Protein differential expression in normal tissues from HIPED for KCNJ9 Gene

This gene is overexpressed in Heart (67.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNJ9 Gene



Protein tissue co-expression partners for KCNJ9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ9 Gene:

KCNJ9

SOURCE GeneReport for Unigene cluster for KCNJ9 Gene:

Hs.66726

Evidence on tissue expression from TISSUES for KCNJ9 Gene

  • Nervous system(3)
genes like me logo Genes that share expression patterns with KCNJ9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ9 Gene

Orthologs for KCNJ9 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KCNJ9 35
  • 100 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNJ9 34 35
  • 93.47 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj9 34
  • 92.2 (n)
mouse
(Mus musculus)
 Mammalia Kcnj9 34 16 35
  • 91.86 (n)
dog
(Canis familiaris)
 Mammalia KCNJ9 34 35
  • 91.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNJ9 35
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ9 35
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 35
  • 49 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia KCNJ9 35
  • 78 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii LOC100334285 34
  • 73.18 (n)
KCNJ9 35
  • 73 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Ir 36
  • 51 (a)
Irk2 36
  • 50 (a)
Irk3 36
  • 32 (a)
worm
(Caenorhabditis elegans)
 Secernentea irk-2 36
  • 47 (a)
irk-1 36
  • 46 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 63 (a)
 OneToMany
Species where no ortholog for KCNJ9 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KCNJ9 Gene

ENSEMBL:
Gene Tree for KCNJ9 (if available)
TreeFam:
Gene Tree for KCNJ9 (if available)

Paralogs for KCNJ9 Gene

Paralogs for KCNJ9 Gene

(16) SIMAP similar genes for KCNJ9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ9: view

Variants for KCNJ9 Gene

Sequence variations from dbSNP and Humsavar for KCNJ9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs796052606 Likely pathogenic 160,070,021(-) CCAAG(G/T)TAAGA intron-variant, splice-donor-variant
rs372841245 Uncertain significance 160,070,064(+) CGGGG(C/T)AGCGG intron-variant, utr-variant-5-prime
rs374287142 Uncertain significance 160,070,204(+) CCGGG(A/G)GCAGA intron-variant, utr-variant-5-prime
rs886045413 Uncertain significance 160,070,189(-) CCCGA(A/C)CCCGG intron-variant, utr-variant-5-prime
rs1000246451 -- 160,080,748(+) AGAAG(G/T)TTGCC upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNJ9 Gene

Variant ID Type Subtype PubMed ID
nsv520189 CNV loss 19592680
nsv952222 CNV deletion 24416366

Variation tolerance for KCNJ9 Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.45; 82.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ9 Gene

Human Gene Mutation Database (HGMD)
KCNJ9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ9 Gene

Disorders for KCNJ9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNJ9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNJ9

Genetic Association Database (GAD)
KCNJ9
Human Genome Epidemiology (HuGE) Navigator
KCNJ9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ9
genes like me logo Genes that share disorders with KCNJ9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNJ9 Gene

Publications for KCNJ9 Gene

  1. Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3). (PMID: 10913335) Vaughn J. … Permana P.A. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  2. Association analysis of chromosome 1 migraine candidate genes. (PMID: 17727731) Fernandez F. … Griffiths L.R. (BMC Med. Genet. 2007) 3 46 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3 64
  5. No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. (PMID: 15911117) Lohoff F.W. … Buono R.J. (Neurosci. Lett. 2005) 3 46 64

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