Aliases for KCNJ11 Gene
Aliases for KCNJ11 Gene
- Potassium Voltage-Gated Channel Subfamily J Member 11 2 3 5
- Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 2 3
- Potassium Channel, Inwardly Rectifying Subfamily J Member 11 3 4
- ATP-Sensitive Inward Rectifier Potassium Channel 11 2 3
- Inward Rectifier K(+) Channel Kir6.2 3 4
- IKATP 3 4
- 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
External Ids for KCNJ11 Gene
- HGNC: 6257
- Entrez Gene: 3767
- Ensembl: ENSG00000187486
- OMIM: 600937
- UniProtKB: Q14654
Previous GeneCards Identifiers for KCNJ11 Gene
- GC11M018547
- GC11M018350
- GC11M017446
- GC11M017372
- GC11M017371
- GC11M017363
- GC11M017090
- GC11M017406
- GC11M017385
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 Voltage-Gated Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Diabetes Mellitus, Permanent Neonatal and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Type II diabetes mellitus. 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 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
- Monarch Initiative
- Search for KCNJ11 at DataMed
- Search for KCNJ11 at HumanCyc
No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ11 Gene
Genomics for KCNJ11 Gene
GeneHancer (GH) Regulatory Elements for KCNJ11 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KCNJ11 gene promoter:
-
- NF-kappaB
- NF-kappaB1
- HNF-4alpha2
- HNF-4alpha1
- HOXA5
- COMP1
Regulatory Element Products
Genomic Locations for KCNJ11 Gene
Genomic Locations for KCNJ11 Gene
- chr11:17,364,824-17,389,331
- (GRCh38/hg38)
- Size:
- 24,508 bases
- Orientation:
- Minus strand
- chr11:17,406,795-17,410,878
- (GRCh37/hg19)
- Size:
- 4,084 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 Entrez Gene
- 11p15.1 by HGNC
- 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=Translation N-terminally shortened.; 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:
Antibody Products
- Novus Biologicals Antibodies for KCNJ11
-
Abcam antibodies for KCNJ11
- Invitrogen Antibodies for KCNJ11
- antibodies-online: Search results for 148 available KCNJ11 Antibodies ranked by validation data
- Compare Top KCNJ11 Antibodies
-
Recommended
- 60 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 27 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 113 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 60 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 27 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 113 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- GeneTex KCNJ11 Antibody for KCNJ11
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ11
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KCNJ11
- Origene Custom Protein Services for KCNJ11
- Search GeneTex for Proteins for KCNJ11
-
Abcam proteins for KCNJ11
Assay 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
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 | -- |
| 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
- cardiovascular system phenotype
- pigmentation phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- muscle phenotype
- adipose tissue phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for KCNJ11:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased HIV-1 infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Reduced mammosphere formation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance
Animal Models for KCNJ11 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNJ11
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNJ11
-
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ11
- genomics-online: gRNA clones - Search results for available KCNJ11 gene related products
- Applied Biological Materials CRISPR for KCNJ11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
- GenScript: Design CRISPR guide RNA sequences 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)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available KCNJ11 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCNJ11
- VectorBuilder custom plasmid, inducible vectors for KCNJ11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNJ11
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ11
- genomics-online: cdna clones - Search results for available KCNJ11 gene related products
- orf clones - Search results for available KCNJ11 gene related products
- Applied Biological Materials Clones for KCNJ11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| cytosol | 3 |
| endosome | 2 |
| extracellular | 1 |
| cytoskeleton | 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
2 KEGG pathways for KCNJ11 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ11 Gene
1 Qiagen pathway for KCNJ11 Gene
Interacting Proteins for KCNJ11 Gene
Selected Interacting proteins:
ENSP00000345708
Q14654-KCJ11_HUMAN
for KCNJ11 Gene via
STRING
IID
UniProtKB
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:0010107 | potassium ion import | ISS | -- |
Drugs & Compounds for KCNJ11 Gene
(46) Drugs for KCNJ11 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, blocker, Target, Target, inhibitor | Kir6 (KATP) channel blocker | 116 | |
| Minoxidil | Approved, Investigational | Pharma | Activator | Kir6 channel (KATP) opener | 35 | |
| Nicorandil | Approved, Investigational | Pharma | Activator, activator | Potassium channel activator, Kir6 (KATP) channel opener and NO donor | 19 | |
| Repaglinide | Approved, Investigational | Pharma | blocker | Kir6 (KATP) channel blocker | 52 | |
| Diazoxide | Approved | Pharma | Activator, Target, inducer | 22 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| O-Desmethylverapamil (D-702) |
|
|
(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 |
Drug Products
Transcripts for KCNJ11 Gene
mRNA/cDNA for KCNJ11 Gene
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (24) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000339994 2801 bps (uc001mna.4)
- ENST00000528731 2146 bps (uc001mnb.5)
- ENST00000526747 418 bps (uc057zmo.1)
- ENST00000526912 781 bps (uc057zmp.1)
- ENST00000528992 466 bps (uc057zmq.1)
Unigene Clusters for KCNJ11 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNJ11
- genomics-online: gRNA clones - Search results for available KCNJ11 gene related products
- Applied Biological Materials CRISPR for KCNJ11
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
- GenScript: Design CRISPR guide RNA sequences for KCNJ11
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available KCNJ11 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KCNJ11
- VectorBuilder custom plasmid, inducible vectors for KCNJ11
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNJ11
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNJ11
- genomics-online: cdna clones - Search results for available KCNJ11 gene related products
- orf clones - Search results for available KCNJ11 gene related products
- Applied Biological Materials Clones for KCNJ11
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | - | - | |||||||||||
| SP3: |
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).
NURSA nuclear receptor signaling pathways regulating expression of KCNJ11 Gene:
KCNJ11SOURCE GeneReport for Unigene cluster for KCNJ11 Gene:
Hs.248141Evidence on tissue expression from TISSUES for KCNJ11 Gene
- Spleen(4.2)
- Pancreas(3.2)
- Muscle(2.8)
- Heart(2.6)
- Nervous system(2.4)
- Blood(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
-
OriGene qPCR primer pairs and template standards for KCNJ11
-
OriGene qPCR primer pairs for KCNJ11
- genomics-online: primer clones - Search results for available KCNJ11 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KCNJ11 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KCNJ11 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ11 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Kcnj11 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kcnj11 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KCNJ11 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KCNJ11 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KCNJ11 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100492679 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kcnj11 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Irk2 34 |
|
ManyToMany | |
| Irk3 35 |
|
|
|||
| Ir 34 |
|
ManyToMany |
- Species where no ortholog for KCNJ11 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 squirt (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
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014188705 | uncertain-significance, Hyperinsulinism, Dominant/Recessive, Transient Neonatal Diabetes, Dominant, Maturity-onset diabetes of the young | 17,388,637(-) | C/A | 5_prime_UTR_variant, intron_variant | |
| rs1029730923 | uncertain-significance, Transient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive, Maturity-onset diabetes of the young | 17,385,864(-) | A/T | 3_prime_UTR_variant | |
| rs104894236 | pathogenic, Islet cell hyperplasia | 17,388,056(-) | G/A/T | coding_sequence_variant, intron_variant, stop_gained, synonymous_variant | |
| rs104894237 | pathogenic, Islet cell hyperplasia | 17,387,331(-) | G/A | coding_sequence_variant, missense_variant | |
| rs104894248 | pathogenic, Islet cell hyperplasia | 17,387,316(-) | T/C | coding_sequence_variant, missense_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ11 Gene
Disorders for KCNJ11 Gene
(51) MalaCards diseases for KCNJ11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, permanent neonatal |
|
|
| hyperinsulinemic hypoglycemia, familial, 2 |
|
|
| maturity-onset diabetes of the young, type 13 |
|
|
| diabetes mellitus, transient neonatal, 3 |
|
|
| hyperinsulinemic hypoglycemia |
|
|
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 mutations affecting the gene represented in this entry.
- Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for KCNJ11
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KCNJ11 Gene
Publications for KCNJ11 Gene
- Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (PMID: 15115830) Gloyn AL … Hattersley AT (The New England journal of medicine 2004) 3 4 22 44 58
- Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro. (PMID: 8897013) Sakura H … Ashcroft FM (Diabetologia 1996) 3 4 22 44 58
- Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N … Bryan J (Science (New York, N.Y.) 1995) 2 3 4 22 58
- Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan SE … Ellard S (European journal of endocrinology 2010) 3 22 44 58
- Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population. (PMID: 20079163) Wang F … Ji LN (Chinese medical journal 2009) 3 22 44 58
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Sources for KCNJ11 Gene
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