1. Gene
  2. KCNJ18 - potassium inwardly rectifying channel subfamily J member 18 Gene

KCNJ18 - potassium inwardly rectifying channel subfamily J member 18 Gene

Homo sapiens

Also known as TTPP2; KIR2.6

Gene ID: 100134444 | Gene type: protein coding

About KCNJ18

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:21,692,523-21,704,612 (from NCBI)

This gene has 1 transcript (splice variant), 251 orthologues, 15 paralogues and is associated with 2 phenotypes. Biased expression in skin (RPKM 1.2), heart (RPKM 0.3) and 9 other tissues.

Summary

This gene encodes a member of the inwardly rectifying Potassium Channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]

KCNJ18 Products(1)

mRNA Protein Name
NM_001194958.2 NP_001181887.2 inward rectifier potassium channel 18
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables inward rectifier potassium channel activity IDA
IDA: Inferred from direct assay
20074522 GOA
enables inward rectifier potassium channel activity IMP
IMP: Inferred from mutant phenotype
21665951 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
20074522 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

KCNJ18 Protein Structure

IRK_N

IRK_N: Inward rectifier potassium channel N-terminal (2 - 46)

IRK

IRK: Inward rectifier potassium channel (47 - 379)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 433 a.a.
Protein Preferred Names Protein Names

inward rectifier potassium channel 18

inward rectifier K(+) channel Kir2.6

Related Diseases

Diseases Alias
Thyrotoxic Periodic Paralysis 2

Thyrotoxic Periodic Paralysis, Susceptibility To, 2

TTPP2

Thyrotoxic Hypokalemic Periodic Paralysis

Tpp

Thyrotoxic Periodic Paralysis

Thyrotoxic Hypokalemic Periodic Paralysis

Periodic Paralysis

Westphal Disease

Periodic Myotonia

Myoplegic Dystrophy

Familial Recurrent Paralysis

Familial Myoplegia

Cavare Disease

Cavarre Disease

Familial Paralysis

Familial Periodic Paralysis

Myotonic Periodic Paralysis

Exophthalmic Ophthalmoplegia
Uvulitis

Acute Uvulitis

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Graves Disease 1

Thyrotoxicosis

Graves Disease, Susceptibility To, 1

GRD1

Grd

Hyperthyroidism, Autoimmune

Hyperthyroidism

Hyperactive Thyroid Gland

Overactive Thyroid

Toxic Diffuse Goitre

Toxic Primary Thyroid Hyperplasia

Stokes Disease

Thyrotoxicosis With Goitre

Thyrotoxicosis Struma

Graves Disease

Goitre With Hyperthyroidism

Basedow Disease

Exophthalmic Goitre

Exophthalmic Struma

Flajani Disease

Graves Disease With Exophthalmos

Hyperthyroid Goitre

Hyperthyroidism Struma

Thyroid Exophthalmos

Malignant Exophthalmos

Parry Disease

Toxic Diffuse Goitre With Exophthalmos

Toxic Goitre

Toxic Goitre Nos

Thyrotoxicosis Due To Uninodular Goitre

Toxic Thyroid Nodule

Toxic Uninodular Goitre

Uninodular Toxic Struma

Uninodular Toxic Struma With Hyperthyroidism

Thyrotoxicosis Due To Single Thyroid Nodule

Toxic Uninodular Goitre With Hyperthyroidism

Hyperthyroidism With Thyroid Nodule

Thyrotoxicosis With Toxic Uninodular Goitre

Uninodular Goitre In Hyperthyroidism

Uninodular Goitre In Thyrotoxicosis

Toxic Multinodular Goitre

Multinodular Goitre With Thyrotoxicosis

Thyrotoxicosis Nodular Goitre

Nodular Goitre With Thyrotoxicosis

Adenomatous Goitre With Hyperthyroidism

Multinodular Goitre With Hyperthyroidism

Nodular Goitre With Hyperthyroidism

Nodular Struma With Hyperthyroidism

Plummer Disease

Thyrotoxicosis Adenomatous Goitre

Thyrotoxicosis Adenomatous Struma

Toxic Adenomatous Goitre

Toxic Adenomatous Struma

Toxic Nodular Goitre Nos

Toxic Struma Nodosa

Toxic Nodular Struma

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

Hyperthyroidism

Overactive Thyroid

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

Hyperkalemic Periodic Paralysis

HYPP

Gamstorp Disease

Gamstorp Episodic Adynamy

Adynamia Episodica Hereditaria With Or Without Myotonia

Familial Hyperkalemic Periodic Paralysis

Hyperkpp

Hyperpp

Adynamia Episodica Hereditaria

Primary Hyperkalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis, Type 2

Sodium Channel Muscle Disease

Familial Hyperpp

Hyperkalemic Pp

Primary Hyperpp

Periodic Paralysis Hyperkalemic

Periodic Paralysis Normokalemic

NKPP

Periodic Paralysis Eukalemic

Paralysis, Hyperkalemic Periodic

Paralysis, Periodic, Hyperkalemic

Potassium Aggravated Myotonia

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita

PMC

Paralysis Periodica Paramyotonica

Eulenburg Disease

Myotonia Congenita Intermittens

Von Eulenburg Paramyotonia Congenita

Paralysis Periodica Paramyotonia

Von Eulenberg'S Disease

Paramyotonia Congenita Without Cold Paralysis

Eulenburg Syndrome

Paramyotonia

Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type

Jequier Kozlowski Skeletal Dysplasia

Smd Kozlowski Type

SMDK

Dysmorphism Arthrogryposis Skeletal Maturation Advanced

Jequier-Kozlowski Syndrome

Skeletal Dysplasia Jequier-Kozlowski Type

Smd, Kozlowski Type

Scapuloperoneal Spinal Muscular Atrophy

SPSMA

Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Neurogenic Scapuloperoneal Amyotrophy, New England Type

Scapuloperoneal Neuronopathy

Spinal Muscular Atrophy, Scapuloperoneal

Amyotrophy Neurogenic Scapuloperoneal New England Type

Muscular Atrophy, Spinal

Scapuloperoneal Form Of Spinal Muscular Atrophy

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form

Congenital Myotonia

Thomsen And Becker Disease

Thomsen Disease

Thomsen'S Disease

Generalized Myotonia Of Thomsen

Congenital Myotonic Muscular Dystrophy

Myotonia Congenita Nos

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

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
Mus musculus KCNJ18 MGD MGI:108495