Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3767
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium inwardly rectifying channel subfamily J member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNJ11
Synonyms (NCBI Gene) Gene synonyms aliases
BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, PNDM2, TNDM3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez 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, whi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs5219 T>A,C,G Likely-benign, benign, risk-factor, drug-response, benign-likely-benign Intron variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant
rs28936678 A>G Pathogenic Coding sequence variant, missense variant
rs74162102 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs74339576 C>A,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs80356610 A>G Pathogenic Missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT616628 hsa-miR-339-5p HITS-CLIP 19536157
MIRT616627 hsa-miR-5193 HITS-CLIP 19536157
MIRT616626 hsa-miR-660-3p HITS-CLIP 19536157
MIRT616625 hsa-miR-221-5p HITS-CLIP 19536157
MIRT616624 hsa-miR-8073 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
HNF4A Unknown 17894829
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001508 Process Action potential IEA
GO:0001666 Process Response to hypoxia IEA
GO:0002931 Process Response to ischemia IEA
GO:0003229 Process Ventricular cardiac muscle tissue development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600937 6257 ENSG00000187486
Protein
UniProt ID Q14654
Protein name ATP-sensitive inward rectifier potassium channel 11 (IKATP) (Inward rectifier K(+) channel Kir6.2) (Potassium channel, inwardly rectifying subfamily J member 11)
Protein function Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:3481534
PDB 6C3O , 6C3P , 7S5T , 7S5X , 7S5Y , 7S5Z , 7S60 , 7S61
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK 36 174 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 181 354 Inward rectifier potassium channel C-terminal domain Domain
Sequence
Sequence length 390
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes diabetes rs80356611 N/A
Diabetes Mellitus permanent neonatal diabetes mellitus, diabetes mellitus, neonatal diabetes mellitus, Type 2 diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3 rs193929356, rs587783669, rs80356624, rs80356611, rs80356616, rs954727530, rs104894237, rs1564865302, rs80356625, rs80356613, rs587783672, rs193929355 N/A
Hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia, familial, 2 rs797045637, rs766891274, rs104894237, rs267607196 N/A
Mason type diabetes maturity onset diabetes mellitus in young rs104894237, rs587783672, rs80356625 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
DEND Syndrome intermediate DEND syndrome, DEND syndrome N/A N/A GenCC
Hyperinsulinism autosomal recessive hyperinsulinism due to Kir6.2 deficiency, Familial hyperinsulinism, autosomal dominant hyperinsulinism due to Kir6.2 deficiency, diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency N/A N/A GenCC, ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 27223594
Amyotrophic Lateral Sclerosis Associate 29492846
Anxiety Disorders Associate 27086753
Arrhythmias Cardiac Associate 24222218
Arteriolosclerosis Associate 24135527
Atrial Fibrillation Inhibit 11693772
Atrial Remodeling Associate 18504616
Attention Deficit Disorder with Hyperactivity Associate 27555491
Autism Spectrum Disorder Associate 30377186
Beckwith Wiedemann Syndrome Associate 27173951, 36339418