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Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and i... See more...
Aliases for KCNJ11 Gene
Aliases for KCNJ11 Gene
- Potassium Inwardly Rectifying Channel Subfamily J Member 11 2 3 5
- ATP-Sensitive Inward Rectifier Potassium Channel 11 2 3 4
- Potassium Channel, Inwardly Rectifying Subfamily J Member 11 3 4
- Inward Rectifier K(+) Channel Kir6.2 3 4
- IKATP 3 4
- BIR 2 3
- Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 2
- Inwardly-Rectifying Potassium Channel Subfamily J Member 11 3
- Inwardly Rectifing Potassium Channel Subfamily J Member 11 3
- Potassium Channel Inwardly Rectifing Subfamily J Member 11 3
- Potassium Voltage-Gated Channel Subfamily J Member 11 3
External Ids for KCNJ11 Gene
- HGNC: 6257
- NCBI Entrez Gene: 3767
- Ensembl: ENSG00000187486
- OMIM®: 600937
- UniProtKB/Swiss-Prot: Q14654
Previous GeneCards Identifiers for KCNJ11 Gene
- GC11M018547
- GC11M018350
- GC11M017446
- GC11M017372
- GC11M017371
- GC11M017363
- GC11M017090
- GC11M017406
- GC11M017364
Summaries for KCNJ11 Gene
-
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for KCNJ11 Gene
KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Maturity-Onset Diabetes Of The Young, Type 13. Among its related pathways are Type II diabetes mellitus and Antiarrhythmic Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNJ8.
UniProtKB/Swiss-Prot Summary for KCNJ11 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. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
-
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 KCNJ11 Gene
- HGNC (6257)
- NCBI Entrez Gene (3767)
- Ensembl (ENSG00000187486)
- OMIM® (600937)
- UniProtKB/Swiss-Prot (Q14654)
- Open Targets Platform(ENSG00000187486)
- Monarch Initiative
- Search for KCNJ11 at DataMed
- Search for KCNJ11 at HumanCyc
No data available for CIViC Summary , Rfam classification and piRNA Summary for KCNJ11 Gene
Genomics for KCNJ11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KCNJ11 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 KCNJ11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ11
- Top Transcription factor binding sites by QIAGEN in the KCNJ11 gene promoter:
-
- COMP1
- HNF-4alpha1
- HNF-4alpha2
- HOXA5
- NF-kappaB
- NF-kappaB1
Genomic Locations for KCNJ11 Gene
Latest Assembly
- chr11:17,385,246-17,389,346
- (GRCh38/hg38)
- Size:
- 4,101 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:17,406,795-17,410,893
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 4,099 bases
- Orientation:
- Minus strand
- chr11:17,407,406-17,410,878
- (GRCh37/hg19 by Ensembl)
- Size:
- 3,473 bases
- Orientation:
- Minus strand
Genomic View for KCNJ11 Gene
Genes around KCNJ11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.1 by HGNC
- 11p15.1 by Entrez Gene
- 11p15.1 by Ensembl
KCNJ11 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 KCNJ11 Gene
Proteins for KCNJ11 Gene
-
Protein details for KCNJ11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14654-KCJ11_HUMAN
- Recommended name:
- ATP-sensitive inward rectifier potassium channel 11
- Protein Accession:
- Q14654
- B4DWI4
- E9PNK0
- Q2M1H7
- Q58EX3
- Q8IW96
Protein attributes for KCNJ11 Gene
- Size:
- 390 amino acids
- Molecular mass:
- 43541 Da
- Quaternary structure:
-
- Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.
- SequenceCaution:
-
- Sequence=AAH40617.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Post-translational modifications for KCNJ11 Gene
- Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for KCNJ11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences KCNJ11 / Kir6.2 Antibody (LS-B3251) and KCNJ11 / Kir6.2 Antibody (LS-B7661)
- G Biosciences Immunotag™ Kir6.2 Antibody
- HUABIO Kir6.2 Antibody (ER1803-98)
- Novus Biologicals Antibodies for KCNJ11
-
Abcam antibodies for KCNJ11
- Invitrogen Antibodies for KCNJ11 (AFLGC-Kcnj11)
- antibodies-online: Show 39 available KCNJ11 Antibodies ranked by validation data
- Compare Top KCNJ11 Antibodies
-
Recommended
- 67 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 31 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 131 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
-
Boster Bio Antibodies for KCNJ11
-
Custom Antibody ServicesProSci Antibodies for KCNJ11
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ11
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KCNJ11
- Origene Custom Protein Services for KCNJ11
- Novus Biologicals proteins for KCNJ11
-
Abcam proteins for KCNJ11
Assay products for research
- antibodies-online: Show 3 available KCNJ11 Elisa Kits ranked by validation data
- Compare Top KCNJ11 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for KCNJ11 Gene
Domains & Families for KCNJ11 Gene
Gene Families for KCNJ11 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for KCNJ11 Gene
- InterPro:
- Blocks:
-
- Inward rectifier K+ channel superfamily signature
- Kir6.2 inward rectifier K+ channel signature
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNJ11 Gene
- GenScript: Design optimal peptide antigens:
-
- Mutant potassium inwardly-rectifying channel subfamily J member 11 (C5IU89_HUMAN)
- Mutant potassium inwardly-rectifying channel subfamily J member 11 (C5IU90_HUMAN)
- Potassium channel inwardly rectifing subfamily J member 11 (D2K1F9_HUMAN)
- Potassium channel, inwardly rectifying subfamily J member 11 (IRK11_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14654UniProtKB/Swiss-Prot:
KCJ11_HUMAN :- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily.
- Family:
-
- Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily.
Function for KCNJ11 Gene
Molecular function for KCNJ11 Gene
- 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. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
- GENATLAS Biochemistry:
- potassium non voltage-gated channel,weakly inwardly rectifying,member 11,component with SUR1 of an ATP dependent potassium channel,expressed in pancreatic islet,beta cell
Phenotypes From GWAS Catalog for KCNJ11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005242 | inward rectifier potassium channel activity | IEA,IBA | 21873635 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005249 | voltage-gated potassium channel activity | IDA | 19805355 |
| GO:0005515 | protein binding | IPI | 19805355 |
| GO:0005524 | ATP binding | TAS | -- |
Phenotypes for KCNJ11 Gene
- MGI mutant phenotypes for KCNJ11:
-
inferred from 4 alleles
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for KCNJ11:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Reduced mammosphere formation
- Decreased shRNA abundance (Z-score < -2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased HIV-1 infection
Animal Models for KCNJ11 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for KCNJ11
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KCNJ11 - Starting at $85 >
- * KCNJ11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KCNJ11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
miRNA for KCNJ11 Gene
- miRTarBase miRNAs that target KCNJ11
-
- hsa-miR-548au-3p (MIRT488962)
- hsa-miR-4673 (MIRT488963)
- hsa-miR-4692 (MIRT488964)
- hsa-miR-4645-5p (MIRT488965)
- hsa-miR-4514 (MIRT488966)
- hsa-miR-449c-5p (MIRT488967)
- hsa-miR-34b-5p (MIRT488968)
- hsa-miR-2682-5p (MIRT488969)
- mmu-miR-873a-5p (MIRT578417)
- hsa-miR-6845-3p (MIRT616610)
- hsa-miR-550b-2-5p (MIRT616611)
- hsa-miR-4642 (MIRT616612)
- hsa-miR-4279 (MIRT616613)
- hsa-miR-6749-3p (MIRT616614)
- hsa-miR-550a-5p (MIRT616615)
- hsa-miR-550a-3-5p (MIRT616616)
- hsa-miR-1271-3p (MIRT616617)
- hsa-miR-6889-3p (MIRT616618)
- hsa-miR-5588-5p (MIRT616619)
- hsa-miR-4799-3p (MIRT616620)
- hsa-miR-4720-5p (MIRT616621)
- hsa-miR-7113-3p (MIRT616622)
- hsa-miR-1914-5p (MIRT616623)
- hsa-miR-8073 (MIRT616624)
- hsa-miR-221-5p (MIRT616625)
- hsa-miR-660-3p (MIRT616626)
- hsa-miR-5193 (MIRT616627)
- hsa-miR-339-5p (MIRT616628)
- hsa-miR-6779-3p (MIRT616629)
- hsa-miR-4722-5p (MIRT646977)
- hsa-miR-1233-3p (MIRT646978)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ11
- Browse OriGene Inhibitory RNA Products For KCNJ11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ11
Clone products for research
- Applied Biological Materials (abm): Clones for KCNJ11 - Starting at $45 >
- * KCNJ11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206089
- MR206089
- MR206089L3
- MR206089L4
- MR229118
- RC209103
- RC209103L1
- RC209103L2
- RC209103L3
- RC209103L4
- RC228816
- RC228816L3
- RC228816L4
- RG209103
- RG228816
- RR209218
- RR209218L3
- RR209218L4
- MR206089L3V
- MR206089L4V
- RC209103L1V
- RC209103L2V
- RC209103L3V
- RC209103L4V
- RC228816L3V
- RC228816L4V
- RR209218L3V
- RR209218L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNJ11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ11
Cell Lines for research
-
Horizon Cell Lines for KCNJ11
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ11 Gene
Localization for KCNJ11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KCNJ11 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| endosome | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001669 | acrosomal vesicle | IEA | -- |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ11 Gene
Pathways & Interactions for KCNJ11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Type II diabetes mellitus | ||
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | Inwardly rectifying K+ channels | ||
| 4 | Cardiac conduction |
.39
|
|
| 5 | Integration of energy metabolism | ||
Pathways by source for KCNJ11 Gene
2 BioSystems pathways for KCNJ11 Gene
16 Reactome pathways for KCNJ11 Gene
2 PharmGKB pathways for KCNJ11 Gene
3 KEGG pathways for KCNJ11 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ11 Gene
- Development_Leptin signaling via PI3K-dependent pathway
1 Qiagen pathway for KCNJ11 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
Interacting Proteins for KCNJ11 Gene
Selected Interacting proteins:
Q14654-KCJ11_HUMAN
ENSP00000345708
for KCNJ11 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for KCNJ11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002931 | response to ischemia | IEA | -- |
| GO:0006006 | glucose metabolic process | IMP | 8923010 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0032355 | response to estradiol | IEA | -- |
Drugs & Compounds for KCNJ11 Gene
(56) Drugs for KCNJ11 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glyburide | Approved | Pharma | Inhibitor, Target, Target, blocker | Kir6 (KATP) channel blocker | 126 | |
| Glimepiride | Approved | Pharma | Target, inhibitor, blocker | Sulfonylurea compound | 252 | |
| Minoxidil | Approved, Investigational | Pharma | Activator | Kir6 channel (KATP) opener | 50 | |
| Nicorandil | Approved, Investigational | Pharma | Activator | Potassium channel activator, Kir6 (KATP) channel opener and NO donor | 27 | |
| Diazoxide | Approved | Pharma | Activator, Target, inducer | 29 |
(5) Tocris Compounds for KCNJ11 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 |
(15) ApexBio Compounds for KCNJ11 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Amiodarone HCl | Anti-arrhythmic drug | 19774-82-4 |
| Dofetilide | 115256-11-6 | |
| Dronedarone HCl | Antiarrhythmic drugs | 141625-93-6 |
| Gliclazide | 21187-98-4 | |
| Glipizide | 29094-61-9 | |
| Gliquidone | 33342-05-1 | |
| Hydralazine HCl | 304-20-1 | |
| Indapamide | 26807-65-8 | |
| Minoxidil | 38304-91-5 | |
| Mitiglinide Calcium | 145525-41-3 | |
| ML133 HCl | Potassium channel inhibitor for Kir2.1 | 1222781-70-5 |
| Nateglinide | Insulin secretagog agent | 105816-04-4 |
| Nicorandil | Potassium channel activator | 65141-46-0 |
| Repaglinide | Kir6 (KATP) channel blocker | 135062-02-1 |
| TRAM-34 | KCa3.1 blocker,potent and highly selective | 289905-88-0 |
Transcripts for KCNJ11 Gene
mRNA/cDNA for KCNJ11 Gene
- 4 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000339994 3412 nts (view in UCSC)
- ENST00000526747 418 nts (view in UCSC)
- ENST00000526912 781 nts (view in UCSC)
- ENST00000528731 2146 nts (view in UCSC)
- ENST00000528992 466 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KCNJ11 - Starting at $85 >
- * KCNJ11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KCNJ11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNJ11
- Browse OriGene Inhibitory RNA Products For KCNJ11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ11
Clone products for research
- Applied Biological Materials (abm): Clones for KCNJ11 - Starting at $45 >
- * KCNJ11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206089
- MR206089
- MR206089L3
- MR206089L4
- MR229118
- RC209103
- RC209103L1
- RC209103L2
- RC209103L3
- RC209103L4
- RC228816
- RC228816L3
- RC228816L4
- RG209103
- RG228816
- RR209218
- RR209218L3
- RR209218L4
- MR206089L3V
- MR206089L4V
- RC209103L1V
- RC209103L2V
- RC209103L3V
- RC209103L4V
- RC228816L3V
- RC228816L4V
- RR209218L3V
- RR209218L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNJ11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ11
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | - | - | |||||||||||
| SP3: |
Relevant External Links for KCNJ11 Gene
- GeneLoc Exon Structure for
- KCNJ11
Expression for KCNJ11 Gene
mRNA differential expression in normal tissues according to GTEx for KCNJ11 Gene
This gene is overexpressed in Muscle - Skeletal (x20.8).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ11
SOURCE GeneReport for Unigene cluster for KCNJ11 Gene:
Hs.248141Evidence on tissue expression from TISSUES for KCNJ11 Gene
- Spleen(4.3)
- Pancreas(3.2)
- Muscle(2.9)
- Heart(2.7)
- Nervous system(2.6)
- Liver(2.2)
- Blood(2.2)
- Intestine(2.1)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- lip
- nose
- skull
Thorax:
- chest wall
- heart
Abdomen:
- abdominal wall
- adrenal gland
- kidney
- pancreas
Pelvis:
- penis
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for KCNJ11
-
OriGene qPCR primer pairs and template standards for KCNJ11
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for KCNJ11 Gene
Orthologs for KCNJ11 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ11 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kcnj11 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kcnj11 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KCNJ11 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KCNJ11 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KCNJ11 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100492679 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | kcnj11 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Irk2 31 |
|
ManyToMany | |
| Irk3 32 |
|
|
|||
| Ir 31 |
|
ManyToMany |
- Species where no ortholog for KCNJ11 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 Squirt (Ciona savignyi)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for KCNJ11 Gene
- ENSEMBL:
- Gene Tree for KCNJ11 (if available)
- TreeFam:
- Gene Tree for KCNJ11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KCNJ11: view image
Paralogs for KCNJ11 Gene
Paralogs for KCNJ11 Gene
(16) SIMAP similar genes for KCNJ11 Gene using alignment to 6 proteins:
- IRK11_HUMAN
- C5IU89_HUMAN
- C5IU90_HUMAN
- D2K1F9_HUMAN
- E9PPF1_HUMAN
- H0YES9_HUMAN
Variants for KCNJ11 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ11 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 847800 | Conflicting Interpretations: Monogenic diabetes; not provided | 17,387,190(-) |
C/G NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) |
MISSENSE | |
| 877473 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,385,504(-) |
C/T NM_000525.4(KCNJ11):c.*1415G>A |
THREE_PRIME_UTR | |
| 877474 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,385,699(-) |
C/T NM_000525.4(KCNJ11):c.*1220G>A |
THREE_PRIME_UTR | |
| 877518 | Conflicting Interpretations: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,386,071(-) |
T/C NM_000525.4(KCNJ11):c.*848A>G |
THREE_PRIME_UTR | |
| 877519 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,386,077(-) |
G/C NM_000525.4(KCNJ11):c.*842C>G |
THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.87;
48.34% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KCNJ11 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ11 Gene
Disorders for KCNJ11 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperinsulinemic hypoglycemia, familial, 2 |
|
|
| maturity-onset diabetes of the young, type 13 |
|
|
| diabetes mellitus, transient neonatal, 3 |
|
|
| diabetes mellitus, permanent neonatal, 2 |
|
|
| permanent neonatal diabetes mellitus |
|
|
Search KCNJ11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KCJ11_HUMAN- Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269 PubMed:10204114, ECO:0000269 PubMed:12364426, ECO:0000269 PubMed:15562009, ECO:0000269 PubMed:15579781, ECO:0000269 PubMed:15807877, ECO:0000269 PubMed:15998776, ECO:0000269 PubMed:16332676, ECO:0000269 PubMed:16357843, ECO:0000269 PubMed:18596924, ECO:0000269 PubMed:19357197, ECO:0000269 PubMed:7847376, ECO:0000269 PubMed:8923010}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Diabetes mellitus, permanent neonatal 2 (PNDM2) [MIM:618856]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269 PubMed:15115830, ECO:0000269 PubMed:15292329, ECO:0000269 PubMed:15448106, ECO:0000269 PubMed:15448107, ECO:0000269 PubMed:15580558, ECO:0000269 PubMed:15583126, ECO:0000269 PubMed:16609879, ECO:0000269 PubMed:16731833, ECO:0000269 PubMed:17213273, ECO:0000269 PubMed:17652641, ECO:0000269 PubMed:17855752, ECO:0000269 PubMed:20022885, ECO:0000269 PubMed:28842488}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]: Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269 PubMed:15718250, ECO:0000269 PubMed:15784703}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Note=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.
- Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:22701567}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for KCNJ11
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KCNJ11 Gene
Publications for KCNJ11 Gene
- Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. (PMID: 19357197) Taneja TK … Sivaprasadarao A (Human molecular genetics 2009) 3 4 23 74
- Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. (PMID: 18596924) Pinney SE … Stanley CA (The Journal of clinical investigation 2008) 3 4 23 74
- Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. (PMID: 16731833) Shimomura K … Ashcroft FM (Diabetes 2006) 3 4 23 74
- The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. (PMID: 15784703) Yorifuji T … Nakahata T (The Journal of clinical endocrinology and metabolism 2005) 3 4 23 74
- KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (PMID: 15580558) Massa O … Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (Human mutation 2005) 3 4 23 74
ExternalLinks
Products for KCNJ11 Gene
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- RR209218
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- RC228816L3V
- RC228816L4V
- RR209218L3V
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- VectorBuilder Custom and pre-made DNA vectors for KCNJ11 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 39 available KCNJ11 Antibodies ranked by validation data
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- 131 WB Antibodies (anti-human)
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- 1 IHC (p) Antibody (anti-human)
- antibodies-online: Show 3 available KCNJ11 Elisa Kits ranked by validation data
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- Boster Bio Antibodies for KCNJ11
Sources for KCNJ11 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (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) MedlinePlus Genetics
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- (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
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- (160) Synthego
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