Aliases for KCNJ6 Gene
Aliases for KCNJ6 Gene
External Ids for KCNJ6 Gene
- HGNC: 6267
- Entrez Gene: 3763
- Ensembl: ENSG00000157542
- OMIM: 600877
- UniProtKB: P48051
Previous HGNC Symbols for KCNJ6 Gene
- KCNJ7
Previous GeneCards Identifiers for KCNJ6 Gene
- GC21M035574
- GC21M037917
- GC21M037918
- GC21M038996
- GC21M024470
Summaries 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 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 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.
-
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.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ6 Gene
Genomics for KCNJ6 Gene
Regulatory Elements for KCNJ6 Gene
Enhancers for KCNJ6 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around KCNJ6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the KCNJ6 gene promoter:
Regulatory Element Products
Genomic Location for KCNJ6 Gene
- Chromosome:
- 21
- Start:
- 37,607,376 bp from pter
- End:
- 37,919,731 bp from pter
- Size:
- 312,356 bases
- Orientation:
- Minus strand
Genomic View for KCNJ6 Gene
Genes around KCNJ6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.13 by Ensembl
- 21q22.13 by Entrez Gene
- 21q22.13 by HGNC
KCNJ6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for KCNJ6 Gene
Post-translational modifications for KCNJ6 Gene
Other Protein References for KCNJ6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for KCNJ6
- Cell Signaling Technology (CST) Antibodies for KCNJ6 (GIRK2)
-
Custom Antibody ServicesOriGene Antibodies for KCNJ6
- Novus Biologicals Antibodies for KCNJ6
-
Abcam antibodies for KCNJ6
- Invitrogen Antibodies for KCNJ6
- antibodies-online Antibodies for KCNJ6: See all 75
- GeneTex KCNJ6 antibody for KCNJ6
Protein Products
-
OriGene Purified Proteins for KCNJ6
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNJ6
- Origene Custom Protein Services for KCNJ6
- antibodies-online Proteins for KCNJ6: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for KCNJ6
-
Abcam proteins for KCNJ6
Assay Products
No data available for DME Specific Peptides for KCNJ6 Gene
Domains & Families for KCNJ6 Gene
Gene Families for KCNJ6 Gene
- HGNC:
- IUPHAR :
Protein Domains for KCNJ6 Gene
Suggested Antigen Peptide Sequences for KCNJ6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P48051UniProtKB/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.
Function for KCNJ6 Gene
Molecular function for KCNJ6 Gene
- 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
- 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.
| 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 | -- |
Phenotypes for KCNJ6 Gene
- MGI mutant phenotypes for KCNJ6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KCNJ6:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Effect on mitosis
- Decreased IL-8 secretion
- Decreased shRNA abundance (Z-score < -2)
- Decreased Salmonella enterica Typhimurium invasion
Animal Models for KCNJ6 Gene
- MGI Knock Outs for KCNJ6:
-
- Kcnj6 tm1Stf
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNJ6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ6 gene
- Search ViGene Biosciences for KCNJ6
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ6
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ6
- GenScript: Design CRISPR guide RNA sequences for KCNJ6
miRNA for KCNJ6 Gene
- miRTarBase miRNAs that target KCNJ6
-
- hsa-mir-148b-3p (MIRT019353)
- hsa-mir-128-3p (MIRT021940)
- hsa-mir-3157-5p (MIRT495434)
- hsa-mir-6503-3p (MIRT495435)
- hsa-mir-3116 (MIRT495436)
- hsa-mir-1254 (MIRT495437)
- hsa-mir-422a (MIRT495438)
- hsa-mir-378i (MIRT495439)
- hsa-mir-378h (MIRT495440)
- hsa-mir-378f (MIRT495441)
- hsa-mir-378e (MIRT495442)
- hsa-mir-378d (MIRT495443)
- hsa-mir-378c (MIRT495444)
- hsa-mir-378b (MIRT495445)
- hsa-mir-378a-3p (MIRT495446)
- hsa-mir-645 (MIRT495447)
- hsa-mir-3690 (MIRT495448)
- hsa-mir-3910 (MIRT495449)
- hsa-mir-1277-5p (MIRT503233)
- hsa-mir-190a-3p (MIRT503234)
- hsa-mir-5011-5p (MIRT503235)
- hsa-mir-7702 (MIRT514061)
- hsa-mir-493-5p (MIRT514062)
- hsa-mir-584-5p (MIRT514063)
- hsa-mir-151a-3p (MIRT514064)
- hsa-mir-758-5p (MIRT514065)
- hsa-mir-218-2-3p (MIRT514066)
- hsa-mir-5580-3p (MIRT514067)
- hsa-mir-8076 (MIRT514068)
- hsa-mir-6867-5p (MIRT568660)
- hsa-mir-574-5p (MIRT568661)
- hsa-mir-210-3p (MIRT572273)
- hsa-mir-297 (MIRT572274)
- hsa-mir-567 (MIRT572275)
- hsa-mir-511-3p (MIRT572276)
- hsa-mir-7850-5p (MIRT623531)
- hsa-mir-5004-3p (MIRT623532)
- hsa-mir-4753-3p (MIRT623533)
- hsa-mir-6873-3p (MIRT623534)
- hsa-mir-130b-5p (MIRT623535)
- hsa-mir-6817-3p (MIRT623536)
- hsa-mir-7110-3p (MIRT623537)
- hsa-mir-6756-3p (MIRT623538)
- hsa-mir-6868-3p (MIRT623539)
- hsa-mir-6749-3p (MIRT623540)
- hsa-mir-6792-3p (MIRT623541)
- hsa-mir-4691-5p (MIRT623542)
- hsa-mir-4685-3p (MIRT623543)
- hsa-mir-4287 (MIRT623544)
- hsa-mir-4469 (MIRT623545)
- hsa-mir-6734-3p (MIRT623546)
- hsa-mir-5088-3p (MIRT623547)
- hsa-mir-4667-3p (MIRT623548)
- hsa-mir-1470 (MIRT623549)
- hsa-mir-4698 (MIRT640078)
- hsa-mir-2276-3p (MIRT657027)
- hsa-mir-4638-5p (MIRT657028)
- hsa-mir-1307-3p (MIRT657029)
- hsa-mir-6741-3p (MIRT657030)
- hsa-mir-4532 (MIRT657031)
- hsa-mir-1247-3p (MIRT657032)
- hsa-mir-6890-3p (MIRT657033)
- hsa-mir-3680-3p (MIRT657034)
- hsa-mir-557 (MIRT657035)
- hsa-mir-507 (MIRT657036)
- hsa-mir-450b-5p (MIRT657037)
- hsa-mir-6516-5p (MIRT657038)
- hsa-mir-3678-3p (MIRT657039)
- hsa-mir-1273h-3p (MIRT657040)
- hsa-mir-3667-3p (MIRT657041)
- hsa-mir-129-5p (MIRT657042)
- hsa-mir-4284 (MIRT667772)
- hsa-mir-1304-3p (MIRT667773)
- hsa-mir-122-3p (MIRT667774)
- hsa-mir-4279 (MIRT674016)
- hsa-mir-1976 (MIRT674017)
- hsa-mir-3653-5p (MIRT674018)
- hsa-mir-885-3p (MIRT712453)
- hsa-mir-8088 (MIRT712454)
- hsa-mir-5196-3p (MIRT712455)
- hsa-mir-4725-5p (MIRT715613)
- hsa-mir-6719-3p (MIRT715614)
- hsa-mir-502-3p (MIRT715615)
- hsa-mir-501-3p (MIRT715616)
- hsa-mir-888-3p (MIRT715617)
- hsa-mir-3148 (MIRT715618)
- hsa-mir-3675-3p (MIRT715619)
- hsa-mir-216b-5p (MIRT715620)
- hsa-mir-651-3p (MIRT715621)
- hsa-mir-548c-3p (MIRT715622)
miRNA Products
- Search ViGene Biosciences for KCNJ6
Inhibitory RNA Products
- Origene shRNA, RNAi, and siRNA products in human, mouse, rat for KCNJ6
- Browse OriGene Inhibitory RNA Products For KCNJ6
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ6 gene
Clone Products
-
OriGene ORF clones in human for KCNJ6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for KCNJ6
-
ViGene Biosciences adenoviral particle packaged cDNA for KCNJ6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNJ6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ6 gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IDA | 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 | -- |
Pathways & Interactions for KCNJ6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Inwardly rectifying K+ channels | ||
| 2 | Circadian entrainment | ||
| 3 | GABAergic synapse | ||
| 4 | GABA receptor activation | ||
| 5 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for KCNJ6 Gene
1 Cell Signaling Technology pathway for KCNJ6 Gene
9 KEGG pathways for KCNJ6 Gene
2 Qiagen pathways for KCNJ6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | TAS | 7796919 |
| GO:0010107 | potassium ion import | IBA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for KCNJ6 Gene
Drugs & Compounds for KCNJ6 Gene
| 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 | ||
| Fentanyl | Approved, Illicit, Investigational, Vet_approved | Pharma | Full agonist, Agonist | 821 | ||
| Methadone | Approved | Pharma | 330 | |||
| flupirtine | Approved, Investigational | Pharma | Activator | Analgesic agent | 3 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| trifluoroacetic acid |
|
76-05-1 |
|
(5) Tocris Compounds for KCNJ6 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 |
Transcripts for KCNJ6 Gene
mRNA/cDNA for KCNJ6 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (15) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KCNJ6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ6
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ6
- GenScript: Design CRISPR guide RNA sequences for KCNJ6
miRNA Products
- Search ViGene Biosciences for KCNJ6
Inhibitory RNA Products
- Origene shRNA, RNAi, and siRNA products in human, mouse, rat for KCNJ6
- Browse OriGene Inhibitory RNA Products For KCNJ6
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ6 gene
Clone Products
-
OriGene ORF clones in human for KCNJ6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for KCNJ6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KCNJ6 Gene:
KCNJ6SOURCE GeneReport for Unigene cluster for KCNJ6 Gene:
Hs.658533mRNA 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for KCNJ6
-
OriGene qPCR primer pairs for KCNJ6
Orthologs for KCNJ6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNJ6 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KCNJ6 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ6 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KCNJ6 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kcnj6 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KCNJ6 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnj6 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | KCNJ6 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KCNJ6 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnj9 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | KCNJ6 35 |
|
OneToOne | |
| kcnj6 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Ir 36 |
|
|
|
| Irk2 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | irk-1 36 |
|
|
|
| irk-2 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for KCNJ6 Gene
Paralogs for KCNJ6 Gene
(16) SIMAP similar genes for KCNJ6 Gene using alignment to 1 proteins:
Variants for KCNJ6 Gene
| SNP ID | Clin | Chr 21 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs786204795 | Pathogenic, Keppen-Lubinsky syndrome (KPLBS) [MIM:614098] | 37,714,697(-) | CCATT(A/G)GTTAT | downstream-variant-500B, upstream-variant-2KB, reference, missense | |
| rs786204794 | Pathogenic | 37,714,700(-) | AACCA(-/CCA)TTGGT | downstream-variant-500B, upstream-variant-2KB, cds-indel | |
| rs1000000128 | -- | 37,863,069(+) | TACTG(A/G)TGAAG | intron-variant | |
| rs1000006159 | -- | 37,838,089(+) | GCAAT(C/G)TTTTT | intron-variant | |
| rs1000010589 | -- | 37,855,143(+) | TCACA(A/G)TGGAA | intron-variant |
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)
Relevant External Links for KCNJ6 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ6 Gene
Disorders for KCNJ6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| keppen-lubinsky syndrome |
|
|
| lubinsky syndrome |
|
|
| andersen syndrome |
|
|
| intellectual disability |
|
|
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.
Relevant External Links for KCNJ6
No data available for Genatlas for KCNJ6 Gene
Publications for KCNJ6 Gene
- Characterization and variation of a human inwardly-rectifying-K- channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. (PMID: 7796919) Sakura H. … Ashcroft F.M. (FEBS Lett. 1995) 2 3 4 64
- 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. (J. Biol. Chem. 1995) 3 4 22 64
- 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 M.-L. … Stoffel M. (Diabetes 1995) 3 4 22 64
- Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. (PMID: 25620207) Masotti A. … Dallapiccola B. (Am. J. Hum. Genet. 2015) 3 4 64
- 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) 3 25 64
Products for KCNJ6 Gene
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- Custom Antibody ServicesOriGene Antibodies for KCNJ6
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- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for KCNJ6
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for KCNJ6 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for KCNJ6
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- GenScript: Design CRISPR guide RNA sequences for KCNJ6
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Cell Signaling Technology (CST) Antibodies for KCNJ6 (GIRK2)
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- antibodies-online Antibodies for KCNJ6: See all 75
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- GeneTex KCNJ6 antibody for KCNJ6
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- ViGene Biosciences adenoviral particle packaged cDNA for KCNJ6 gene
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- Horizon Cell Lines for KCNJ6
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNJ6
- VectorBuilder custom plasmid, inducible vectors for KCNJ6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNJ6
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for KCNJ6 Gene
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
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