KCNJ11

potassium inwardly rectifying channel subfamily J member 11, the group of Potassium inwardly rectifying channel subfamily J

Basic information

Region (hg38): 11:17365171-17389331

Links

ENSG00000187486 ∙ NCBI:3767 ∙ OMIM:600937 ∙ HGNC:6257 ∙ Uniprot:Q14654 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hyperinsulinemic hypoglycemia, familial, 2 (Definitive), mode of inheritance: AR
• hyperinsulinemic hypoglycemia, familial, 2 (Strong), mode of inheritance: AD
• diabetes mellitus, permanent neonatal 2 (Strong), mode of inheritance: AD
• diabetes mellitus, noninsulin-dependent (Strong), mode of inheritance: AD
• diabetes mellitus, transient neonatal, 3 (Strong), mode of inheritance: AD
• maturity-onset diabetes of the young type 13 (Strong), mode of inheritance: AD
• hyperinsulinemic hypoglycemia, familial, 2 (Strong), mode of inheritance: AR
• hyperinsulinemic hypoglycemia, familial, 2 (Definitive), mode of inheritance: AR
• diabetes mellitus, transient neonatal, 3 (Definitive), mode of inheritance: AD
• maturity-onset diabetes of the young (Supportive), mode of inheritance: AD
• DEND syndrome (Supportive), mode of inheritance: AD
• autosomal recessive hyperinsulinism due to Kir6.2 deficiency (Supportive), mode of inheritance: AR
• permanent neonatal diabetes mellitus (Supportive), mode of inheritance: AD
• transient neonatal diabetes mellitus (Supportive), mode of inheritance: AD
• intermediate DEND syndrome (Supportive), mode of inheritance: AD
• autosomal dominant hyperinsulinism due to Kir6.2 deficiency (Supportive), mode of inheritance: AD
• diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (Supportive), mode of inheritance: AR
• hyperinsulinemic hypoglycemia, familial, 2 (Strong), mode of inheritance: AR
• diabetes mellitus, transient neonatal, 3 (Limited), mode of inheritance: AD
• maturity-onset diabetes of the young type 13 (Strong), mode of inheritance: AD
• monogenic diabetes (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hyperinsulinemic hypoglycemia, familial, 2; Diabetes mellitus, transient neonatal, 3; Diabetes, permanent neonatal 2; Diabetes, permanent neonatal, with neurologic features	AD/AR	Endocrine	Individuals may manifest in infancy with findings including intrauterine growth retardation, postnatal growth deficiency, and signs of diabetes mellitus (eg, hyperglycemia, glycosuria), as well as severe dehydration, and recognition can allow preventive measures related to potential sequelae, surveillance (eg, with blood glucose monitoring as well as surveillance for other common sequelae of diabetes mellitus affecting systems such as the renal and ophthalmogic systems); In the case of an acute diabetic crisis, rapid treatment (eg, with rehydration and IV insulin, transitioning to SQ insulin when stable) is indicated, though rapid-acting and (non-continuous) short-acting insulin preparations may result in severe hypoglycemia in young patients; Individuals with neonatal diabetes mellitus due to KCNJ11 variants may specifically respond well to oral sulfonylurea treatment	Endocrine; Neurologic	8923010; 9356020; 11395395; 15115830; 15579781; 15531505; 15562009; 15718250; 15998776; 15784703; 16731833; 16885550; 17327377; 17213273; 18556340; 18596924; 19357197; 20022885; 20049716; 20301620; 20546268; 22701567

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNJ11 gene.

• not provided (265 variants)
• Maturity onset diabetes mellitus in young (166 variants)
• Hyperinsulinemic hypoglycemia, familial, 2 (88 variants)
• Diabetes mellitus, transient neonatal, 3 (73 variants)
• Permanent neonatal diabetes mellitus (72 variants)
• Maturity-onset diabetes of the young type 13 (71 variants)
• not specified (54 variants)
• Type 2 diabetes mellitus (36 variants)
• Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2 (29 variants)
• Inborn genetic diseases (26 variants)
• Diabetes mellitus, permanent neonatal 2 (17 variants)
• Neonatal diabetes mellitus (12 variants)
• Transitory neonatal diabetes mellitus (12 variants)
• Hyperinsulinemia (9 variants)
• KCNJ11-related condition (7 variants)
• Hyperinsulinism, Dominant/Recessive (7 variants)
• Transient Neonatal Diabetes, Dominant (7 variants)
• Diabetes mellitus (7 variants)
• Monogenic diabetes (7 variants)
• Neonatal insulin-dependent diabetes mellitus (6 variants)
• Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 (5 variants)
• Neonatal hypoglycemia (5 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3 (3 variants)
• Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2 (3 variants)
• KCNJ11-Related Disorders (3 variants)
• Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2 (3 variants)
• Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13 (2 variants)
• Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2;Type 2 diabetes mellitus (2 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 (2 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3;Permanent neonatal diabetes mellitus (2 variants)
• Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3 (2 variants)
• Hypoglycemia (2 variants)
• sulfonylureas response (1 variants)
• Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2 (1 variants)
• Hyperinsulinemic hypoglycemia (1 variants)
• Diabetes mellitus type 2, susceptibility to (1 variants)
• Diabetes mellitus type 1;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 3 (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus (1 variants)
• Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 (1 variants)
• Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2 (1 variants)
• Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, permanent neonatal 2 (1 variants)
• Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13 (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3;Maturity-onset diabetes of the young type 13;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 2 (1 variants)
• Glibenclamide response (1 variants)
• Exercise stress response, impaired, association with (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13 (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus (1 variants)
• DEND syndrome (1 variants)
• Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2 (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 2 (1 variants)
• Permanent neonatal diabetes mellitus 1 (1 variants)
• Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3;Permanent neonatal diabetes mellitus;Maturity-onset diabetes of the young type 13;Type 2 diabetes mellitus (1 variants)
• Diabetes mellitus, permanent neonatal 2;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Hyperinsulinemic hypoglycemia, familial, 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	86	1	90
missense	7	22	107	6	7	149
nonsense	2	2				4
start loss			2			2
frameshift	3	8				11
inframe indel			6			6
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			39	2	2	43
Total	12	32	157	94	10

Highest pathogenic variant AF is 0.00000657

Variants in KCNJ11

This is a list of pathogenic ClinVar variants found in the KCNJ11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-17367104-A-G		not specified	Uncertain significance (Dec 21, 2022)
11-17367116-T-C		not specified	Uncertain significance (Dec 09, 2023)
11-17367161-G-A		not specified	Uncertain significance (Sep 26, 2023)
11-17367168-T-A		not specified	Uncertain significance (Apr 04, 2023)
11-17368911-T-A		not specified	Uncertain significance (Jul 21, 2021)
11-17368941-A-T		not specified	Uncertain significance (Sep 28, 2021)
11-17385357-T-C		Diabetes mellitus, transient neonatal, 3 • Maturity-onset diabetes of the young type 13 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 12, 2018)
11-17385504-C-G		Maturity onset diabetes mellitus in young	Uncertain significance (-)
11-17385504-C-T		Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3	Uncertain significance (Jan 13, 2018)
11-17385699-C-T		Diabetes mellitus, transient neonatal, 3 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 13, 2018)
11-17385722-C-T		Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jun 01, 2023)
11-17385751-C-T		Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Nov 02, 2021)
11-17385864-A-T		Diabetes mellitus, transient neonatal, 3 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 12, 2018)
11-17385882-C-A		Hyperinsulinemic hypoglycemia, familial, 2 • Diabetes mellitus, transient neonatal, 3 • Maturity-onset diabetes of the young type 13 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 12, 2018)
11-17385982-G-A		Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 13, 2018)
11-17386057-C-A		Maturity-onset diabetes of the young type 13 • Hyperinsulinemic hypoglycemia, familial, 2 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jan 13, 2018)
11-17386070-G-C		Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 12, 2018)
11-17386071-T-C		Hyperinsulinemic hypoglycemia, familial, 2 • Diabetes mellitus, transient neonatal, 3 • Maturity-onset diabetes of the young type 13 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jan 12, 2018)
11-17386077-G-C		Hyperinsulinemic hypoglycemia, familial, 2 • Diabetes mellitus, transient neonatal, 3 • Maturity-onset diabetes of the young type 13 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 13, 2018)
11-17386091-G-GGA		Hyperinsulinism, Dominant/Recessive • Transient Neonatal Diabetes, Dominant • Maturity onset diabetes mellitus in young	Uncertain significance (Jun 14, 2016)
11-17386153-C-T		Diabetes mellitus, transient neonatal, 3 • Maturity-onset diabetes of the young type 13 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (May 01, 2023)
11-17386187-G-A		Maturity-onset diabetes of the young type 13 • Hyperinsulinemic hypoglycemia, familial, 2 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 13, 2018)
11-17386218-T-A		Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Uncertain significance (Jan 12, 2018)
11-17386222-C-T		Hyperinsulinemic hypoglycemia, familial, 2 • Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jan 13, 2018)
11-17386233-T-C		Maturity-onset diabetes of the young type 13 • Diabetes mellitus, transient neonatal, 3 • Hyperinsulinemic hypoglycemia, familial, 2 • Maturity onset diabetes mellitus in young	Conflicting classifications of pathogenicity (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNJ11	protein_coding	protein_coding	ENST00000339994	1	3473

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0109	0.848	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.65	186	261	0.713	0.0000184	2554
Missense in Polyphen		80	126	0.63494		1247
Synonymous	0.809	98	109	0.901	0.00000800	830
Loss of Function	1.20	4	7.54	0.530	3.30e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000250, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:28842488, ECO:0000269|PubMed:9831708}.
• Disease: DISEASE: 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.; DISEASE: 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.; DISEASE: 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.; DISEASE: Note=Defects in KCNJ11 may contribute to non-insulin- dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.; DISEASE: 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.
• Pathway: Type II diabetes mellitus - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics;Antiarrhythmic Pathway, Pharmacodynamics;Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Bupranolol Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Type II diabetes mellitus;Metabolism;Ion homeostasis;Transport of small molecules;Regulation of insulin secretion;Neuronal System;Cardiac conduction;Muscle contraction;ABC-family proteins mediated transport;ATP sensitive Potassium channels;Integration of energy metabolism;Inwardly rectifying K+ channels;Potassium Channels;FOXA2 and FOXA3 transcription factor networks (Consensus)

Recessive Scores

• pRec: 0.421

Intolerance Scores

• loftool: 0.0189
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.46

Haploinsufficiency Scores

• pHI: 0.216
• hipred: Y
• hipred_score: 0.714
• ghis: 0.508

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.789

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kcnj11
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: kcnj11
• Affected structure: pancreatic B cell
• Phenotype tag: abnormal
• Phenotype quality: decreased area

Gene ontology

• Biological process: response to ischemia;glucose metabolic process;response to estradiol;response to ATP;response to testosterone;regulation of membrane potential;response to drug;negative regulation of insulin secretion;regulation of insulin secretion;nervous system process;cellular response to nicotine;cellular response to glucose stimulus;cellular response to tumor necrosis factor;potassium ion transmembrane transport;positive regulation of protein localization to plasma membrane;potassium ion import across plasma membrane;positive regulation of cation channel activity
• Cellular component: acrosomal vesicle;nuclear envelope;mitochondrion;endosome;endoplasmic reticulum;cytosol;plasma membrane;integral component of plasma membrane;inward rectifying potassium channel;intercalated disc;T-tubule;axolemma;neuronal cell body;myelin sheath;cell body fiber
• Molecular function: inward rectifier potassium channel activity;voltage-gated potassium channel activity;protein binding;ATP binding;protein C-terminus binding;ATP-activated inward rectifier potassium channel activity;ankyrin binding;potassium ion binding;heat shock protein binding;ion channel binding