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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-prote... See more...
Aliases for KCNJ6 Gene
Aliases for KCNJ6 Gene
- KCNJ7 3 4
- Potassium Inwardly-Rectifying Channel, Subfamily J, Member 6 2
- Potassium Channel, Inwardly Rectifying Subfamily J, Member 6 3
- Potassium Channel, Inwardly Rectifying Subfamily J Member 6 4
- Potassium Voltage-Gated Channel Subfamily J Member 6 3
- Inward Rectifier Potassium Channel KIR3.2 3
- KIR3.2 3
- Kir3.2 2
- KPLBS 3
- KCNJ6 5
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 Inwardly Rectifying Channel Subfamily J Member 6) is a Protein Coding gene. Diseases associated with KCNJ6 include Keppen-Lubinsky Syndrome and Mental Retardation, Autosomal Dominant 7. Among its related pathways are Neuroscience and GABAergic synapse. 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 Summary 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.
Additional gene information for KCNJ6 Gene
- HGNC(6267)
- Entrez Gene(3763)
- Ensembl(ENSG00000157542)
- OMIM(600877)
- UniProtKB(P48051)
- Open Targets Platform(ENSG00000157542)
- Monarch Initiative
- Search for KCNJ6 at DataMed
- Search for KCNJ6 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ6 Gene
Genomics for KCNJ6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNJ6 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ6
- Top Transcription factor binding sites by QIAGEN in the KCNJ6 gene promoter:
-
- NF-kappaB
- NF-kappaB1
Genomic Locations for KCNJ6 Gene
Genomic Locations for KCNJ6 Gene
- chr21:37,607,373-38,121,345
- (GRCh38/hg38)
- Size:
- 513,973 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:
-
- 21q22.13 by HGNC
- 21q22.13 by Entrez Gene
- 21q22.13 by Ensembl
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
- LifeSpan BioSciences KCNJ6 / GIRK2 Antibody (LS-A9571) and KCNJ6 / GIRK2 Antibody (LS-A8377)
- Novus Biologicals Antibodies for KCNJ6
-
Abcam antibodies for KCNJ6
- Invitrogen Antibodies for KCNJ6 (AFLGC-KCNJ6)
-
Biorbyt antibodies for KCNJ6
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNJ6
- Origene Custom Protein Services for KCNJ6
- antibodies-online: Show 7 available KCNJ6 Proteins ranked by validation data
- Compare Top KCNJ6 Proteins
-
Quality Products:
-
Abcam proteins for KCNJ6
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
Protein Domains for KCNJ6 Gene
- InterPro:
- Blocks:
-
- Inward rectifier K+ channel superfamily signature
- Kir3.2 inward rectifier K+ channel signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNJ6 Gene
- GenScript: Design optimal peptide antigens:
-
- Potassium channel, inwardly rectifying subfamily J member 6 (IRK6_HUMAN)
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
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005242 | inward rectifier potassium channel activity | TAS,IBA | 21873635 |
| 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 | -- |
Phenotypes for KCNJ6 Gene
- MGI mutant phenotypes for KCNJ6:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for KCNJ6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Increased IL-8 secretion
- Increased Salmonella enterica Typhimurium invasion
- Decreased viability in pancreas lineage
- Decreased shRNA abundance (Z-score < -2)
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), polylobed nuclei, decreased viability (cell death)
Animal Models for KCNJ6 Gene
- MGI Knock Outs for KCNJ6:
-
- Kcnj6 Kcnj6<tm1Stf>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNJ6 - Select products 50% OFF >
- * KCNJ6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for KCNJ6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ6
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ6
miRNA for KCNJ6 Gene
- miRTarBase miRNAs that target KCNJ6
-
- mmu-miR-340-5p (MIRT010332)
- mmu-miR-30e-5p (MIRT013342)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ6
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ6
Clone Products
- Applied Biological Materials (abm): Clones for KCNJ6 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227309
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- MG227314
- MG227316
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- RC210938
- RC210938L1
- RC210938L2
- RC210938L3
- RC210938L4
- RG210938
- RR207977
- RR207977L3
- RR207977L4
- MR227309L3V
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- MR227311L3V
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- RC210938L1V
- RC210938L2V
- RC210938L3V
- RC210938L4V
- RR207977L3V
- RR207977L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNJ6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ6
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ6 Gene
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
11 Reactome pathways for KCNJ6 Gene
10 KEGG pathways for KCNJ6 Gene
2 Qiagen pathways for KCNJ6 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
- G-Beta Gamma Signaling
1 Cell Signaling Technology pathway for KCNJ6 Gene
Interacting Proteins for KCNJ6 Gene
Selected Interacting proteins:
P48051-KCNJ6_HUMAN
ENSP00000477437
for KCNJ6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KCNJ6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | TAS | 7796919 |
| GO:0034765 | regulation of ion transmembrane transport | IBA | 21873635 |
| GO:1990573 | potassium ion import across plasma membrane | IBA | 21873635 |
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 | 3266 | ||
| Halothane | Approved, Vet_approved | Pharma | Activator, Inhibitor, Target, inhibitor | 3 | ||
| Isavuconazole | Approved, Investigational | Pharma | Target, inhibitor | 40 | ||
| Fentanyl | Approved, Illicit, Investigational, Vet_approved | Pharma | Agonist, Full agonist, Partial agonist | 1229 | ||
| Methadone | Approved | Pharma | 402 |
| 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 |
| 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 |
Transcripts for KCNJ6 Gene
mRNA/cDNA for KCNJ6 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000609713 19659 nts (view in UCSC)
- ENST00000645093 3219 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KCNJ6 - Select products 50% OFF >
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OriGene CRISPR knockouts for KCNJ6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ6
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ6
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Clone Products
- Applied Biological Materials (abm): Clones for KCNJ6 - Select products 50% OFF >
- * KCNJ6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227309
- MG227311
- MG227314
- MG227316
- MR227309
- MR227309L3
- MR227309L4
- MR227311
- MR227311L3
- MR227311L4
- MR227314
- MR227314L3
- MR227314L4
- MR227316
- MR227316L3
- MR227316L4
- RC210938
- RC210938L1
- RC210938L2
- RC210938L3
- RC210938L4
- RG210938
- RR207977
- RR207977L3
- RR207977L4
- MR227309L3V
- MR227309L4V
- MR227311L3V
- MR227311L4V
- MR227314L3V
- MR227314L4V
- MR227316L3V
- MR227316L4V
- RC210938L1V
- RC210938L2V
- RC210938L3V
- RC210938L4V
- RR207977L3V
- RR207977L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNJ6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ6
Relevant External Links for KCNJ6 Gene
- GeneLoc Exon Structure for
- KCNJ6
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ6
SOURCE 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)
- Skin(2.2)
- Heart(2.2)
- Pancreas(2.1)
- Muscle(2)
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
Primer Products
-
OriGene qPCR primer pairs for KCNJ6
-
OriGene qPCR primer pairs and template standards for KCNJ6
Gene Expression Assay Products
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 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ6 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | KCNJ6 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNJ6 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcnj6 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | KCNJ6 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kcnj6 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KCNJ6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KCNJ6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnj9 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | KCNJ6 31 |
|
OneToOne | |
| kcnj6 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ir 32 |
|
|
|
| Irk2 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | irk-1 32 |
|
|
|
| irk-2 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KCNJ6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Paralogs for KCNJ6 Gene
(16) SIMAP similar genes for KCNJ6 Gene using alignment to 1 proteins:
- IRK6_HUMAN
Variants for KCNJ6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ6 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 735390 | Likely Benign: not provided | 37,714,950(-) | G/A | SYNONYMOUS_VARIANT | |
| 740126 | Likely Benign: not provided | 37,714,755(-) | G/A | SYNONYMOUS_VARIANT | |
| 741240 | Likely Benign: not provided | 37,715,094(-) | G/A | SYNONYMOUS_VARIANT | |
| 745083 | Likely Benign: not provided | 37,714,977(-) | G/A | SYNONYMOUS_VARIANT | |
| 745621 | Likely Benign: not provided | 37,840,651(-) | T/C | 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)
Additional Variant Information for KCNJ6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ6 Gene
Disorders for KCNJ6 Gene
(10) MalaCards diseases for KCNJ6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| keppen-lubinsky syndrome |
|
|
| mental retardation, autosomal dominant 7 |
|
|
| arthrogryposis, distal, type 2a |
|
|
| arthrogryposis, distal, type 1a |
|
|
| arthrogryposis, distal, type 1b |
|
|
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
- Open Targets Platform
No data available for Genatlas for KCNJ6 Gene
Publications for KCNJ6 Gene
- 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 23
- 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
- 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 23
- 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
- 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 26
ExternalLinks
Products for KCNJ6 Gene
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- VectorBuilder Viral vectors for KCNJ6 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Stable cell line generation for KCNJ6
- antibodies-online: Show 20 available KCNJ6 Antibodies ranked by validation data
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- antibodies-online: Search results for available KCNJ6 related products ranked by validation data
- antibodies-online: Show 7 available KCNJ6 Proteins ranked by validation data
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- Quality Products:
- Horizon Cell Lines for KCNJ6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ6
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for KCNJ6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ6
- Biorbyt antibodies for KCNJ6
Sources for KCNJ6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB