Gene Gene information from NCBI Gene database.
Entrez ID 3767
Gene name Potassium inwardly rectifying channel subfamily J member 11
Gene symbol KCNJ11
Synonyms (NCBI Gene)
BIRHHF2IKATPKIR6.2MODY13PHHIPNDM2TNDM3
Chromosome 11
Chromosome location 11p15.1
Summary 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.
66
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.
545
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HNF4A Unknown 17894829
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600937 6257 ENSG00000187486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1015
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atopic eczema Likely pathogenic rs1057518775 RCV000415398
Diabetes Likely pathogenic; Pathogenic rs80356611 RCV004798749
Diabetes mellitus Pathogenic; Likely pathogenic rs587783673, rs587783672, rs587783669, rs80356625, rs193929355 RCV000146117
RCV000146115
RCV000146107
RCV000146113
RCV000146122
Diabetes mellitus, permanent neonatal 2 Likely pathogenic; Pathogenic rs141145502, rs587783673, rs80356624, rs80356616, rs80356625, rs80356611, rs74339576, rs267607196, rs2496411976, rs766891274 RCV002501960
RCV003338421
RCV001089463
RCV000009201
RCV001089465
RCV001089464
RCV005042016
RCV005042017
RCV003387624
RCV002481620
RCV003387732
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DEND syndrome Conflicting classifications of pathogenicity rs1554901822 RCV000626154
Diabetes mellitus type 1 Uncertain significance rs1393796559 RCV003336590
Glibenclamide response drug response rs80356618 RCV002247280
Hyperinsulinemic hypoglycemia Conflicting classifications of pathogenicity rs5216, rs587783666 RCV003993826
RCV002227072
Associations from Text MiningDisease 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