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Aliases for KCNJ6 Gene

Aliases for KCNJ6 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 6 2 3 5
  • Inward Rectifier K(+) Channel Kir3.2 3 4
  • GIRK-2 3 4
  • KATP-2 3 4
  • KCNJ7 3 4
  • GIRK2 3 4
  • KATP2 3 4
  • BIR1 3 4
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 6 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 6 2
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 6 4
  • G Protein-Activated Inward Rectifier Potassium Channel 2 3
  • Inward Rectifier Potassium Channel KIR3.2 3
  • HiGIRK2 3
  • KIR3.2 3
  • KPLBS 3

External Ids for KCNJ6 Gene

Previous HGNC Symbols for KCNJ6 Gene

  • KCNJ7

Previous GeneCards Identifiers for KCNJ6 Gene

  • GC21M035574
  • GC21M037917
  • GC21M037918
  • GC21M038996
  • GC21M024470

Summaries for KCNJ6 Gene

Entrez Gene Summary for KCNJ6 Gene

  • This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

GeneCards Summary for KCNJ6 Gene

KCNJ6 (Potassium Voltage-Gated Channel Subfamily J Member 6) is a Protein Coding gene. Diseases associated with KCNJ6 include Keppen-Lubinsky Syndrome and Lubinsky Syndrome. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. Gene Ontology (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 KCNJ6 Gene

  • This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.

Tocris Summary for KCNJ6 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 KCNJ6 Gene

Additional gene information for KCNJ6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ6 Gene

Genomics for KCNJ6 Gene

GeneHancer (GH) Regulatory Elements for KCNJ6 Gene

Promoters and enhancers for KCNJ6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J037862 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.3 +257.0 257015 4.5 PKNOX1 FOXA2 ATF1 RXRA ATF2 RFX5 YY1 SP1 RFXANK POLR2A KCNJ6 DYRK1A ENSG00000224790 KCNJ15 GC21M037911 GC21M037910 GC21M037815
GH21J037915 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.1 +205.1 205053 1.8 RB1 ZSCAN4 KLF17 SIN3A KLF14 RAD21 ZNF335 GLIS2 EGR1 ZNF143 KCNJ6 GC21M037909 DSCR4-IT1
GH21J038120 Promoter/Enhancer 1.4 EPDnew ENCODE 650.7 -0.3 -317 1.5 HDGF PKNOX1 SMAD1 ATF1 ARNT YY1 POLR2B E2F8 ZFP91 FOS DSCR4 DSCR8 KCNJ6 KCNJ15
GH21J037762 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 17.1 +358.1 358143 2.3 POLR2A SCRT2 FOS PRDM10 FOXA1 KCNJ6 LOC101928368 GC21P037799
GH21J037879 Enhancer 0.9 ENCODE dbSUPER 11.6 +242.2 242202 0.2 ZSCAN26 NFIB ZNF140 ZNF195 KLF14 LCORL ZNF776 ZNF350 FOSL2 FOS ENSG00000242553 TTC3-AS1 ENSG00000224790 KCNJ6 GC21M037910 GC21M037911 GC21M037815
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNJ6 gene promoter:
  • NF-kappaB1
  • NF-kappaB

Genomic Locations for KCNJ6 Gene

Genomic Locations for KCNJ6 Gene
chr21:37,607,376-38,121,345
(GRCh38/hg38)
Size:
513,970 bases
Orientation:
Minus strand
chr21:38,979,678-39,288,749
(GRCh37/hg19)
Size:
309,072 bases
Orientation:
Minus strand

Genomic View for KCNJ6 Gene

Genes around KCNJ6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ6 Gene

Proteins for KCNJ6 Gene

  • Protein details for KCNJ6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48051-KCNJ6_HUMAN
    Recommended name:
    G protein-activated inward rectifier potassium channel 2
    Protein Accession:
    P48051
    Secondary Accessions:
    • Q3MJ74
    • Q53WW6

    Protein attributes for KCNJ6 Gene

    Size:
    423 amino acids
    Molecular mass:
    48451 Da
    Quaternary structure:
    • Associates with GIRK1 or GIRK4 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger. 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 KCNJ6 Gene

Post-translational modifications for KCNJ6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ6 Gene

Domains & Families for KCNJ6 Gene

Gene Families for KCNJ6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNJ6 Gene

Graphical View of Domain Structure for InterPro Entry

P48051

UniProtKB/Swiss-Prot:

KCNJ6_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
genes like me logo Genes that share domains with KCNJ6: view

Function for KCNJ6 Gene

Molecular function for KCNJ6 Gene

UniProtKB/Swiss-Prot Function:
This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.
GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 6,Kir3.2,ATP-regulated,coexpressed with SUR (see symbol) in pancreatic islet,beta cell,unlikely to be involved in juvenile myoclonic epilepsy

Phenotypes From GWAS Catalog for KCNJ6 Gene

Gene Ontology (GO) - Molecular Function for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS 7796919
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,IEA --
genes like me logo Genes that share ontologies with KCNJ6: view
genes like me logo Genes that share phenotypes with KCNJ6: view

Human Phenotype Ontology for KCNJ6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ6 Gene

MGI Knock Outs for KCNJ6:

Animal Model Products

CRISPR Products

miRNA for KCNJ6 Gene

miRTarBase miRNAs that target KCNJ6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ6 Gene

Localization for KCNJ6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ6 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 KCNJ6 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus HDA 16780588
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 7796919
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ6 Gene

Pathways & Interactions for KCNJ6 Gene

genes like me logo Genes that share pathways with KCNJ6: view

Interacting Proteins for KCNJ6 Gene

Gene Ontology (GO) - Biological Process for KCNJ6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS,IEA 7796919
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ6: view

No data available for SIGNOR curated interactions for KCNJ6 Gene

Drugs & Compounds for KCNJ6 Gene

(22) Drugs for KCNJ6 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 2326
Halothane Approved, Vet_approved Pharma Inhibitor, Activator, Target, inhibitor 2
Isavuconazole Approved, Investigational Pharma Target, inhibitor 0
Fentanyl Approved, Illicit, Investigational, Vet_approved Pharma Full agonist, Agonist, Partial agonist 894
Methadone Approved Pharma 341

(4) Additional Compounds for KCNJ6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Perfluoroacetic acid
  • Trifluoressigsaeure
  • Trifluoroacetate
76-05-1

(5) Tocris Compounds for KCNJ6 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
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 KCNJ6: view

Transcripts for KCNJ6 Gene

mRNA/cDNA for KCNJ6 Gene

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

Unigene Clusters for KCNJ6 Gene

Potassium inwardly-rectifying channel, subfamily J, member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ6

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ6 Gene

No ASD Table

Relevant External Links for KCNJ6 Gene

GeneLoc Exon Structure for
KCNJ6
ECgene alternative splicing isoforms for
KCNJ6

Expression for KCNJ6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ6 Gene

mRNA differential expression in normal tissues according to GTEx for KCNJ6 Gene

This gene is overexpressed in Pituitary (x5.5), Brain - Cerebellar Hemisphere (x5.5), Brain - Substantia nigra (x5.5), and Brain - Cerebellum (x4.4).

Protein differential expression in normal tissues from HIPED for KCNJ6 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNJ6 Gene



Protein tissue co-expression partners for KCNJ6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ6 Gene:

KCNJ6

SOURCE GeneReport for Unigene cluster for KCNJ6 Gene:

Hs.658533

mRNA Expression by UniProt/SwissProt for KCNJ6 Gene:

P48051-KCNJ6_HUMAN
Tissue specificity: Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas.

Evidence on tissue expression from TISSUES for KCNJ6 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KCNJ6: view

Orthologs for KCNJ6 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ6 34 33
  • 99.45 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ6 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ6 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ6 34 33
  • 92.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj6 33
  • 91.33 (n)
cow
(Bos Taurus)
Mammalia KCNJ6 34 33
  • 90.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj6 16 34 33
  • 90.23 (n)
chicken
(Gallus gallus)
Aves KCNJ6 34 33
  • 83.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ6 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj9 33
  • 72.63 (n)
zebrafish
(Danio rerio)
Actinopterygii KCNJ6 34
  • 81 (a)
OneToOne
kcnj6 33
  • 75.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ir 35
  • 50 (a)
Irk2 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea irk-1 35
  • 45 (a)
irk-2 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToMany
Species where no ortholog for KCNJ6 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 KCNJ6 Gene

ENSEMBL:
Gene Tree for KCNJ6 (if available)
TreeFam:
Gene Tree for KCNJ6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ6: view image

Paralogs for KCNJ6 Gene

(16) SIMAP similar genes for KCNJ6 Gene using alignment to 1 proteins:

  • IRK6_HUMAN
genes like me logo Genes that share paralogs with KCNJ6: view

Variants for KCNJ6 Gene

Sequence variations from dbSNP and Humsavar for KCNJ6 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs786204794 pathogenic, Keppen-Lubinsky syndrome 37,714,700(-) TGGTGGT/TGGT coding_sequence_variant, inframe_deletion
rs786204795 pathogenic, Keppen-Lubinsky syndrome, Keppen-Lubinsky syndrome (KPLBS) [MIM:614098] 37,714,697(-) C/T coding_sequence_variant, missense_variant
rs1064796826 uncertain-significance, not specified 37,715,081(-) C/A coding_sequence_variant, missense_variant
rs1000000128 -- 37,863,069(-) G/A intron_variant
rs1000006159 -- 37,838,089(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ6 Gene

Variant ID Type Subtype PubMed ID
esv1008565 CNV deletion 20482838
esv1076046 CNV insertion 17803354
esv1381725 CNV insertion 17803354
esv1461344 CNV insertion 17803354
esv1561266 CNV insertion 17803354
esv1930202 CNV deletion 18987734
esv2611134 CNV insertion 19546169
esv26215 CNV loss 19812545
esv2650741 CNV deletion 19546169
esv2723400 CNV deletion 23290073
esv2723401 CNV deletion 23290073
esv2723402 CNV deletion 23290073
esv2723403 CNV deletion 23290073
esv2723404 CNV deletion 23290073
esv2723405 CNV deletion 23290073
esv2723407 CNV deletion 23290073
esv2723408 CNV deletion 23290073
esv2723409 CNV deletion 23290073
esv2723410 CNV deletion 23290073
esv2723411 CNV deletion 23290073
esv2723412 CNV deletion 23290073
esv3310566 CNV novel sequence insertion 20981092
esv3330468 CNV insertion 20981092
esv3344252 CNV insertion 20981092
esv3371266 CNV insertion 20981092
esv3398083 CNV insertion 20981092
esv3410541 CNV insertion 20981092
esv3432323 CNV insertion 20981092
esv3432776 CNV duplication 20981092
esv3557693 CNV deletion 23714750
nsv1059823 CNV gain 25217958
nsv1072601 CNV deletion 25765185
nsv1127895 CNV deletion 24896259
nsv1129223 CNV insertion 24896259
nsv1139023 CNV deletion 24896259
nsv1139024 CNV deletion 24896259
nsv187226 CNV insertion 16902084
nsv473237 CNV novel sequence insertion 20440878
nsv476318 CNV novel sequence insertion 20440878
nsv587472 CNV loss 21841781
nsv587473 CNV loss 21841781
nsv587474 CNV loss 21841781

Variation tolerance for KCNJ6 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ6 Gene

Human Gene Mutation Database (HGMD)
KCNJ6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ6 Gene

Disorders for KCNJ6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KCNJ6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
keppen-lubinsky syndrome
  • kplbs
lubinsky syndrome
  • hypogonadism-cataract syndrome
chromosomal disease
  • chromosomal disorders
- elite association - COSMIC cancer census association via MalaCards
Search KCNJ6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNJ6_HUMAN
  • Keppen-Lubinsky syndrome (KPLBS) [MIM:614098]: A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. {ECO:0000269 PubMed:25620207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNJ6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNJ6: view

No data available for Genatlas for KCNJ6 Gene

Publications for KCNJ6 Gene

  1. Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. (PMID: 7796919) Sakura H … Ashcroft FM (FEBS letters 1995) 2 3 4 58
  2. Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels. (PMID: 7592809) Ferrer J … Permutt A (The Journal of biological chemistry 1995) 3 4 22 58
  3. Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. (PMID: 7729621) Tsaur ML … German MS (Diabetes 1995) 3 4 22 58
  4. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. (PMID: 25620207) Masotti A … Dallapiccola B (American journal of human genetics 2015) 3 4 58
  5. Molecular mechanism underlying ethanol activation of G-protein-gated inwardly rectifying potassium channels. (PMID: 24145411) Bodhinathan K … Slesinger PA (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 25 58

Products for KCNJ6 Gene

Sources for KCNJ6 Gene

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