KCNJ11 - potassium inwardly rectifying channel subfamily J member 11 Gene

Also Known as BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3767

About KCNJ11

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,385,248-17,389,346 (from NCBI)

This gene has 7 transcripts (splice variants), 195 orthologues, 15 paralogues and is associated with 15 phenotypes. Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 other tissues.

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, 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]

KCNJ11 Products (4)

mRNA Protein Name
NM_000525.4 NP_000516.3 ATP-sensitive inward rectifier potassium channel 11 isoform 1
NM_001166290.2 NP_001159762.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2
NM_001377296.1 NP_001364225.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2
NM_001377297.1 NP_001364226.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2
Molecular Function GO Annotation Evidence References Source
enables ankyrin binding IPI
IPI: Inferred from physical interaction
20610380 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19805355 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
20610380 GOA
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
IDA: Inferred from direct assay
18945825 GOA
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
IMP: Inferred from mutant phenotype
18945825 GOA
enables voltage-gated potassium channel activity IDA
IDA: Inferred from direct assay
19805355 GOA
Biological Process GO Annotation Evidence References Source
involved in glucose metabolic process IMP
IMP: Inferred from mutant phenotype
8923010 GOA
involved in negative regulation of insulin secretion IMP
IMP: Inferred from mutant phenotype
8923010 GOA
involved in nervous system process IMP
IMP: Inferred from mutant phenotype
15115830 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
19805355 GOA
involved in regulation of insulin secretion IMP
IMP: Inferred from mutant phenotype
15115830 GOA
involved in regulation of membrane potential IDA
IDA: Inferred from direct assay
18073297 GOA
involved in response to ATP IDA
IDA: Inferred from direct assay
15583126 GOA
involved in response to xenobiotic stimulus IMP
IMP: Inferred from mutant phenotype
18073297 GOA
Cellular Component GO Annotation Evidence References Source
part of inward rectifying potassium channel IDA
IDA: Inferred from direct assay
19805355 GOA
part of inward rectifying potassium channel IPI
IPI: Inferred from physical interaction
29286281 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19805355 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNJ11 Protein Structure

IRK

IRK: Inward rectifier potassium channel (36 - 358)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
Protein Preferred Names Protein Names

ATP-sensitive inward rectifier potassium channel 11

  • beta-cell inward rectifier subunit

KCNJ11 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KCNJ11 Q14654 ABCC8 Homo sapiens Q09428-1 19805355
Intra
KCNJ11 Q14654 EXOSC8 Homo sapiens Q96B26 32296183
Intra
KCNJ11 Q14654 EXOSC8 Homo sapiens Q96B26 32296183
Intra
KCNJ11 Q14654 EXOSC8 Homo sapiens Q96B26 32296183
Intra
KCNJ11 Q14654 ANK2 Homo sapiens Q01484 19805355
Intra
KCNJ11 Q14654 ANK2 Homo sapiens Q01484 19805355
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hyperinsulinemic Hypoglycemia, Familial, 2
  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Phhi

  • Familial Hyperinsulinism

  • Congenital Hyperinsulinism

  • HHF2

  • Nesidioblastosis

  • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

  • Familial Hyperinsulinemic Hypoglycemia 2

  • Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

  • Chi

  • Congenital Isolated Hyperinsulinism

  • Hyperinsulinemic Hypoglycemia, Persistent

  • Hyperinsulinism, Neonatal

  • Hyperinsulinism, Congenital

  • Hyperinsulinism, Familial

  • Hyperinsulinemic Hypoglycemia Familial

  • Hyperinsulinism Congenital

  • Hyperinsulinism Familial With Pancreatic Nesidioblastosis

  • Hypoglycemia Hyperinsulinemic Of Infancy

  • Nesidioblastosis Of Pancreas

  • Hyperinsulinemic Hypoglycemia Familial 2

  • Hyperinsulinemia Hypoglycemia Of Infancy

  • Infancy Hyperinsulinemia Hypoglycemia

  • Neonatal Hyperinsulinism

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Persistent Hyperinsulinemic Hypoglycemia

  • Phhi Hypoglycemia

  • Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency

  • Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

  • Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency

  • Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form

  • Fhi

  • Familial Hyperinsulinemic Hypoglycemia

  • Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Familial, Type 2

  • Hi-C

Diabetes Mellitus, Permanent Neonatal, 2
  • Diabetes, Permanent Neonatal 2, With Or Without Neurologic Features

  • PNDM2

  • Diabetes Mellitus, Permanent Neonatal 2

  • Dend1

  • Developmental Delay, Epilepsy, And Neonatal Diabetes 1

Maturity-Onset Diabetes Of The Young, Type 13
  • Maturity-Onset Diabetes Of The Young Type 13

  • MODY13

  • Mody Type 13

  • Mody, Type 13

  • Maturity-Onset Diabetes Of The Young 13

  • Diabetes Of The Young, Maturity-Onset, Type 13

Diabetes Mellitus, Transient Neonatal, 3
  • TNDM3

  • Diabetes Mellitus, Transient Neonatal 3

  • Transient Neonatal Diabetes Mellitus 3

Permanent Neonatal Diabetes Mellitus
  • Pndm

  • Permanent Diabetes Mellitus Of Infancy

  • Pdmi

  • Neonatal Diabetes Mellitus, Permanent

Diabetes Mellitus
  • Diabetes

Neonatal Diabetes
  • Neonatal Diabetes Mellitus

  • Diabetes Mellitus Syndrome In Newborn Infant

  • Ndm

Diabetes Mellitus, Permanent Neonatal, 1
  • PNDM1

  • Pdmi

  • Dend Syndrome

  • Permanent Diabetes Mellitus Of Infancy

  • Permanent Neonatal Diabetes Mellitus 1

  • Diabetes Mellitus, Permanent, Of Infancy

  • Diabetes Mellitus, Permanent Neonatal 1

  • Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome

  • Dend

  • Developmental Delay Epilepsy And Neonatal Diabetes

  • Diabetes Mellitus Permanent Neonatal With Neurologic Features

  • Diabetes Mellitus, Permanent Neonatal, Type 1

Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent, Neonatal

  • Neonatal Insulin-Dependent Diabetes Mellitus

Intermediate Dend Syndrome
  • Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Hyperinsulinemic Hypoglycemia
  • Nesidioblastosis

  • Islet Cell Hyperplasia

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Hyperinsulinemic Hypoglycaemia

Hyperinsulinemic Hypoglycemia, Familial, 1
  • HHF1

  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Familial Hyperinsulinemic Hypoglycemia 1

  • Congenital Hyperinsulinism

  • Phhi

  • Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Of Infancy

  • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

  • Nesidioblastosis Of Pancreas

  • Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis

  • Hyperinsulinism, Congenital

  • Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Diazoxide-Resistant Focal Hyperinsulinism Due To Sur1 Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency, Diazoxide-Resistant Focal Form

  • Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency

  • Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Sur1 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Transient Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Transient Neonatal

  • Tndm

  • Chromosome 6-Associated Transient Diabetes Mellitus

  • Dmtn

  • Diabetes Mellitus, 6q24-Related Transient Neonatal

  • Tndm1

  • Neonatal Diabetes Mellitus, Transient

  • Tndm -[Transient Neonatal Diabetes Mellitus]

Isolated Permanent Neonatal Diabetes Mellitus
  • Isolated Pndm

  • Monogenic Diabetes Of Infancy

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Hypoglycemia
  • Hypoglycaemia

  • Low Blood Sugar

  • Hypoglycaemia Nos

  • Spontaneous Hypoglycaemia

  • Nondiabetic Hypoglycaemia

  • Hypoglycaemic Disorder Nos

  • Hypoglycaemic Syndrome

Hyperinsulinism
  • Hyperinsulinemia

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Hypertrichosis
Monogenic Diabetes
Dermatitis, Atopic
  • Atopic Dermatitis

  • Atopic Eczema

  • Dermatitis, Atopic, Susceptibility To, 1

  • Atod

  • Eczema, Atopic

  • Dermatitis, Atopic 1

  • Allergic Dermatitis

  • Atopic Neurodermatitis

  • Besnier'S Prurigo

  • Dermatitis, Atopic, 1

  • Dermatitis Atopic

  • Eczema

  • Besnier Prurigo

Cantu Syndrome
  • Hypertrichotic Osteochondrodysplasia

  • Hypertrichotic Osteochondrodysplasia Cantu Type

  • Cantú Syndrome

  • Craniofaciocardioskeletal Syndrome

  • Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

  • Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

  • Congenital Hypertrichosis-Coarse Facial Features Spectrum

  • HTOCD

  • Osteochondrodysplasia, Hypertrichotic

Hyperglycemia
Cardiomyopathy, Dilated, 1o
  • Dilated Cardiomyopathy 1o

  • CMD1O

  • Dilated Cardiomyopathy With Ventricular Tachycardia

  • Cardiomyopathy, Dilated, With Ventricular Tachycardia

  • Cardiomyopathy, Dilated 1o

  • Cardiomyopathy, Dilated, Type 1o

Chronic Duodenal Ileus
Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Maturity-Onset Diabetes Of The Young, Type 9
  • Maturity-Onset Diabetes Of The Young Type 9

  • MODY9

  • Maturity-Onset Diabetes Of The Young, Type Ix

  • Maturity-Onset Diabetes Of The Young 9

  • Mody-9

  • Mody Type 9

  • Diabetes Of The Young, Maturity-Onset, Type 9

Maturity-Onset Diabetes Of The Young, Type 11
  • Maturity-Onset Diabetes Of The Young Type 11

  • MODY11

  • Maturity-Onset Diabetes Of The Young 11

  • Mody-11

  • Mody Type 11

  • Diabetes Of The Young, Maturity-Onset, Type 11

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
  • Wolcott-Rallison Syndrome

  • Med-Iddm Syndrome

  • Iddm-Med Syndrome

  • Wolcott Rallison Syndrome

  • WRS

  • Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

  • Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

  • Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Maturity-Onset Diabetes Of The Young, Type 7
  • Maturity-Onset Diabetes Of The Young Type 7

  • MODY7

  • Maturity-Onset Diabetes Of The Young, Type Vii

  • Maturity-Onset Diabetes Of The Young 7

  • Mody-7

  • Mody Type 7

  • Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
  • Maturity-Onset Diabetes Of The Young Type 8

  • MODY8

  • Dped

  • Maturity-Onset Diabetes Of The Young, Type Viii

  • Mody Type 8

  • Diabetes And Pancreatic Exocrine Dysfunction

  • Diabetes-Pancreatic Exocrine Dysfunction Syndrome

  • Diabetes And Pancreatic Exocrine

  • Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction

  • Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction

  • Diabetes And Pancreatic Exocrine Dysfunction Syndrome

  • Mody-8

  • Diabetes Of The Young, Maturity-Onset, Type 8

Wolfram Syndrome 1
  • WFS1

  • Didmoad

  • Wfs

  • Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome

  • Wolfram Syndrome

Maturity-Onset Diabetes Of The Young, Type 14
  • Maturity-Onset Diabetes Of The Young Type 14

  • MODY14

  • Maturity-Onset Diabetes Of The Young 14

  • Diabetes Of The Young, Maturity-Onset, Type 14

Glucose Intolerance
  • Glucose: Intolerance

  • Glucose: Malabsorption

  • Malabsorption Of Glucose

  • Impaired Glucose Tolerance

Maturity-Onset Diabetes Of The Young, Type 2
  • Maturity-Onset Diabetes Of The Young Type 2

  • MODY2

  • Mody Glucokinase-Related

  • Mody Type 2

  • Mody, Type 2

  • Mody, Glucokinase-Related

  • Mody, Type Ii

  • Maturity-Onset Diabetes Of The Young 2

  • Mody-2

  • Diabetes Of The Young, Maturity-Onset, Type 2

  • Diabetes Mellitus Autosomal Dominant Type Ii

Munchausen By Proxy
  • Munchausen Syndrome By Proxy

  • Munchausen By Proxy Syndrome

  • Münchausen Syndrome By Proxy

Maturity-Onset Diabetes Of The Young, Type 10
  • Maturity-Onset Diabetes Of The Young Type 10

  • MODY10

  • Maturity-Onset Diabetes Of The Young 10

  • Mody-10

  • Mody Type 10

  • Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 1
  • Maturity-Onset Diabetes Of The Young Type 1

  • MODY1

  • Mild Juvenile Diabetes Mellitus

  • Mody, Type I

  • Diabetes Mellitus Type 2

  • Mody Type 1

  • Mody, Type 1

  • Maturity-Onset Diabetes Of The Young 1

  • Mody-1

  • Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 4
  • Maturity-Onset Diabetes Of The Young Type 4

  • MODY4

  • Mody, Type Iv

  • Mody Type 4

  • Mody, Type 4

  • Maturity-Onset Diabetes Of The Young 4

  • Mody-4

  • Diabetes Of The Young, Maturity-Onset, Type 4

  • Maturity-Onset Diabetes Of The Young, Type Iv

Maturity-Onset Diabetes Of The Young, Type 6
  • MODY6

  • Maturity-Onset Diabetes Of The Young Type 6

  • Maturity-Onset Diabetes Of The Young 6

  • Mody Type 6

  • Mody, Type 6

  • Mody-6

  • Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Hyperinsulinemic Hypoglycemia, Familial, 6
  • Hyperinsulinism-Hyperammonemia Syndrome

  • HHF6

  • Familial Hyperinsulinemic Hypoglycemia 6

  • Hi/Ha Syndrome

  • Ha/Hi Syndrome

  • Hyperinsulinemic Hypoglycemia Familial 6

  • Hyperinsulinism Hyperammonemia Syndrome

  • Hhs

Renal Cysts And Diabetes Syndrome
  • RCAD

  • Mody5

  • Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

  • Cakut With Diabetes

  • Maturity-Onset Diabetes Of The Young Type 5

  • Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

  • Adtkd3

  • Atypical Familial Juvenile Hyperuricemic Nephropathy

  • Atypical Fjhn

  • Familial Hypoplastic Glomerulocystic Kidney

  • Maturity-Onset Diabetes Of The Young, Type 5

  • Hyperuricemic Nephropathy, Familial Juvenile, Atypical

  • Fjhn, Atypical

  • Glomerulocystic Kidney Disease, Hypoplastic Type

  • Glomerulocystic Kidney, Familial Hypoplastic

  • Hypoplastic Type Glomerulocystic Kidney Disease

  • Glomerulocystic Kidney Disease Hypoplastic Type

  • Renal-Diabetes Mody5 Syndrome

Asphyxia Neonatorum
  • Birth Asphyxia

  • Postnatal Asphyxia

  • Asphyxia - Birth

  • Asphyxia, In Liveborn Infant

  • Hypoxia Neonatorum

  • Hypoxia, In Liveborn Infant

  • Intrapartum Asphyxia

  • Neonatal Asphyxia

  • Newborn Asphyxia

  • Asphyxia In Liveborn Infant

  • Asphyxia Of Newborn Nos

  • Perinatal Asphyxia

  • Perinatal Hypoxia

  • Newborn Asphyxiation

Pancreatic Agenesis
  • Partial Pancreatic Agenesis

  • Congenital Pancreatic Agenesis

  • Partial Agenesis Of The Pancreas

  • Agenesis, Pancreatic

  • Pancreatic Agenesis, Congenital

Prediabetes Syndrome
  • Prediabetes

  • Impaired Glucose Tolerance

  • Prediabetic State

  • IGT

  • Igt - [Impaired Glucose Tolerance]

  • Impaired Glucose Tolerance With Unspecified Complication

  • Impaired Glucose Tolerance Without Complication

  • Abnormal Glucose Tolerance

Hyperinsulinemic Hypoglycemia, Familial, 7
  • HHF7

  • Exercise-Induced Hyperinsulinemic Hypoglycemia

  • Exercise-Induced Hyperinsulinism

  • Familial Hyperinsulinemic Hypoglycemia 7

  • Eihi

  • Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency

  • Hyperinsulinism Due To Slc16a1 Deficiency

  • Hyperinsulinemic Hypoglycemia, Exercise-Induced

  • Exercise Induced Hyperinsulinemic Hypoglycemia

  • Hyperinsulinemic Hypoglycemia Exercise-Induced

  • Hyperinsulinemic Hypoglycemia Familial 7

Factitious Disorder
  • Munchausen Syndrome

  • Factitious Disorders

  • Münchausen Syndrome

Hypoglycemia, Leucine-Induced
  • Leucine-Sensitive Hypoglycemia Of Infancy

  • Leucine-Induced Hypoglycemia

  • LIH

  • Hypoglycemia Of Infancy, Leucine-Sensitive

  • Familial Infantile Hypoglycemia Precipitated By Leucine

  • Hypoglycemia Leucine Induced

  • Hypoglycemia Leucine-Induced

Developmental Coordination Disorder
  • Motor Skills Disorders

Wolfram Syndrome
  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Diabetes Mellitus, Ketosis-Prone
  • Diabetic Ketoacidosis

  • KPD

  • Diabetes Mellitus, Ketosis-Prone, Susceptibility To

  • Ketosis-Prone Diabetes Mellitus

  • Diabetes Mellitus, Insulin-Dependent

  • Diabetic Ketoacidosis Nos

  • Dka - [Diabetic Ketoacidosis] Nos

  • Dka - [Diabetic Ketoacidosis] Without Coma

  • Dka - [Diabetic Ketoacidosis] With Coma

Coronary Artery Vasospasm
  • Coronary Vasospasm

  • Coronary Artery Spasm

Fetal Erythroblastosis
  • Erythroblastosis, Fetal

  • Ef - Erythroblastosis Foetalis

  • Erythroblastosis Fetalis

  • Haemolytic Disease Due To Rhesus Isoimmunisation

  • Rhesus Isoimmunisation Of The Newborn

Type 1 Diabetes Mellitus 12
  • Diabetes Mellitus, Insulin-Dependent, 12

  • IDDM12

  • Insulin-Dependent Diabetes Mellitus 12

  • T1D12

  • Type 1 Diabetes Mellitus 12, Susceptibility To

  • Diabetes Mellitus, Insulin-Dependent, Type 12

Andersen Cardiodysrhythmic Periodic Paralysis
  • Andersen Syndrome

  • Andersen-Tawil Syndrome

  • LQT7

  • Long Qt Syndrome 7

  • Ats

  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

  • Long Qt Syndrome Type 7

  • Andersen Tawil Syndrome

  • Potassium-Sensitive Cardiodysrhythmic Type

  • Lqts Type 7

  • Long Qt Syndrome-7

Umbilical Hernia
  • Hernia, Umbilical

Hypokalemic Periodic Paralysis, Type 1
  • Hypokalemic Periodic Paralysis

  • Hokpp

  • Hypopp

  • Westphall Disease

  • HOKPP1

  • Familial Hypokalemic Periodic Paralysis

  • Familial Periodic Paralysis

  • Westphal Disease

  • Hypokalemic Periodic Paralysis Type 1

  • Hypokalemic Familial Periodic Paralysis

  • Periodic Hypokalemic Paralysis

  • Periodic Paralysis I

  • Hypokpp

  • Primary Hypokalemic Periodic Paralysis

  • Periodic Paralysis Hypokalemic 1

  • Paralysis, Hypokalemic, Periodic

  • Paralysis, Hypokalemic, Periodic, Type 1

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris KCNJ11 VGNC VGNC:42259
Mus musculus KCNJ11 MGD MGI:107501
Rattus norvegicus KCNJ11 RGD RGD:69247
Bos taurus KCNJ11 VGNC VGNC:30455
Felis catus KCNJ11 VGNC VGNC:67911
Others KCNJ11 NCBI