KCNJ6 - potassium inwardly rectifying channel subfamily J member 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3763

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

KCNJ6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	KCNJ6	P48051	TMEM120B	Homo sapiens	A0PK00	Y2H Prey Pooling	32296183
Intra	KCNJ6	P48051	EDDM3B	Homo sapiens	P56851	Validated Y2H	32296183
Intra	KCNJ6	P48051	RTP2	Homo sapiens	Q5QGT7	Validated Y2H	32296183
Intra	KCNJ6	P48051	ZDHHC24	Homo sapiens	Q6UX98	Validated Y2H	32296183
Intra	KCNJ6	P48051	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	KCNJ6	P48051	RPRM	Homo sapiens	Q9NS64	Validated Y2H	32296183
Intra	KCNJ6	P48051	ORMDL2	Homo sapiens	Q53FV1	Validated Y2H	32296183
Intra	KCNJ6	P48051	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	32296183
Intra	KCNJ6	P48051	TMPPE	Homo sapiens	Q6ZT21	Validated Y2H	32296183
Intra	KCNJ6	P48051	AIG1	Homo sapiens	Q9NVV5-2	Validated Y2H	32296183
Intra	KCNJ6	P48051	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	KCNJ6	P48051	NRAC	Homo sapiens	Q8N912	Validated Y2H	32296183
Intra	KCNJ6	P48051	SCARF1	Homo sapiens	Q14162	Validated Y2H	32296183
Intra	KCNJ6	P48051	VSTM1	Homo sapiens	Q6UX27-3	Validated Y2H	32296183
Intra	KCNJ6	P48051	TSPO2	Homo sapiens	Q5TGU0	Validated Y2H	32296183
Intra	KCNJ6	P48051	TMEM203	Homo sapiens	Q969S6	Validated Y2H	32296183
Intra	KCNJ6	P48051	TMEM107	Homo sapiens	Q6UX40	Validated Y2H	32296183
Intra	KCNJ6	P48051	TMEM208	Homo sapiens	Q9BTX3	Validated Y2H	32296183
Intra	KCNJ6	P48051	TM6SF2	Homo sapiens	Q9BZW4	Validated Y2H	32296183
Intra	KCNJ6	P48051	SYT3	Homo sapiens	Q9BQG1	Validated Y2H	32296183
Intra	KCNJ6	P48051	PEX11G	Homo sapiens	Q96HA9	Validated Y2H	32296183
Intra	KCNJ6	P48051	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
Intra	KCNJ6	P48051	CNPY3	Homo sapiens	Q9BT09	Validated Y2H	32296183
Intra	KCNJ6	P48051	PMP22	Homo sapiens	Q01453	Validated Y2H	32296183
Intra	KCNJ6	P48051	FIS1	Homo sapiens	Q9Y3D6	Validated Y2H	32296183
Intra	KCNJ6	P48051	PLLP	Homo sapiens	Q9Y342	Validated Y2H	32296183
Intra	KCNJ6	P48051	LPCAT2	Homo sapiens	Q7L5N7	Validated Y2H	32296183
Intra	KCNJ6	P48051	SCAMP4	Homo sapiens	Q969E2	Validated Y2H	32296183
Intra	KCNJ6	P48051	BCL2L2	Homo sapiens	Q92843	Validated Y2H	32296183
Intra	KCNJ6	P48051	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183
Intra	KCNJ6	P48051	FXYD6	Homo sapiens	Q9H0Q3	Validated Y2H	32296183
Intra	KCNJ6	P48051	FUNDC2	Homo sapiens	Q9BWH2	Validated Y2H	32296183
Intra	KCNJ6	P48051	YIPF6	Homo sapiens	Q96EC8	Validated Y2H	32296183
Intra	KCNJ6	P48051	UNC50	Homo sapiens	Q53HI1	Validated Y2H	32296183
Intra	KCNJ6	P48051	YIPF1	Homo sapiens	Q9Y548	Validated Y2H	32296183
Intra	KCNJ6	P48051	PNLIPRP1	Homo sapiens	P54315	Validated Y2H	32296183
Intra	KCNJ6	P48051	PEX16	Homo sapiens	Q9Y5Y5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07149	KCNJ6 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	KCNJ6	NCBI