KCNJ6 - potassium inwardly rectifying channel subfamily J member 6 Gene

Homo sapiens

Also known as BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2

Gene ID: 3763 | Gene type: protein coding

About KCNJ6

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,607,373-37,916,457 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues, 15 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 1.1), stomach (RPKM 0.3) and 7 other tissues.

Summary

This gene encodes a member of the G protein-coupled inwardly-rectifying Potassium Channel family of inward rectifier potassium channels. This type of Potassium Channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

KCNJ6 Products(1)

mRNA	Protein	Name
NM_002240.5	NP_002231.1	G protein-activated inward rectifier potassium channel 2

KCNJ6 Protein Structure

IRK

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

G protein-activated inward rectifier potassium channel 2

inward rectifier K(+) channel Kir3.2

Related Diseases

Diseases

Alias

Keppen-Lubinsky Syndrome

KPLBS

Generalized Lipodystrophy-Progeroid Features-Severe Intellectual Disability Syndrome

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

Intellectual Developmental Disorder, Autosomal Dominant 7

MRD7	Mental Retardation, Autosomal Dominant 7
Autosomal Dominant Non-Syndromic Intellectual Disability 7	Dyrk1a Syndrome
Autosomal Dominant Intellectual Developmental Disorder 7	Autosomal Dominant Mental Retardation 7
Mental Retardation, Autosomal Dominant, Type 7

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h	CSNB1H
Congenital Stationary Night Blindness Type 1h	Night Blindness, Congenital Stationary, 1h

Chromosomal Duplication Syndrome

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07149	KCNJ6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNJ6	RGD	RGD:2959
Felis catus	KCNJ6	VGNC	VGNC:67916
Canis familiaris	KCNJ6	VGNC	VGNC:42267
Bos taurus	KCNJ6	VGNC	VGNC:53585
Macaca mulatta	KCNJ6	VGNC	VGNC:73991
Mus musculus	KCNJ6	MGD	MGI:104781

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