KCNJ10 - potassium inwardly rectifying channel subfamily J member 10 Gene

Also Known as KIR1.2; KIR4.1; SESAME; BIRK-10; KCNJ13-PEN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3766

About KCNJ10

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,037,467-160,070,160 (from NCBI)

This gene has 10 transcripts (splice variants), 260 orthologues, 15 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 52.7), kidney (RPKM 14.4) and 2 other tissues.

Summary

This gene encodes a member of the inward rectifier-type Potassium Channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another Potassium Channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

KCNJ10 Products (1)

mRNA	Protein	Name
NM_002241.5	NP_002232.2	ATP-sensitive inward rectifier potassium channel 10

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables inward rectifier potassium channel activity	IMP IMP: Inferred from mutant phenotype	20651251	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17628813	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	20651251	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	20651251	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

KCNJ10 Protein Structure

IRK

0
100
200
300
379 a.a.

Protein Preferred Names	Protein Names
ATP-sensitive inward rectifier potassium channel 10	ATP-dependent inwardly rectifying potassium channel Kir4.1

KCNJ10 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCNJ10	P78508	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

KCNJ10 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810896	Kir4.1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Rare Renal Tubular Disease
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Developmental And Epileptic Encephalopathy 35	DEE35 Epileptic Encephalopathy, Early Infantile, 35 Eiee35 Developmental And Epileptic Encephalopathy, 35 Early Infantile Epileptic Encephalopathy 35 Itpa-Related Encephalopathy Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement Martsolf-Like Syndrome
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
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
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Deafness, Autosomal Dominant 7	DFNA7 Autosomal Dominant Nonsyndromic Deafness 7 Autosomal Dominant Deafness 7 Deafness, Autosomal Dominant, 7 Deafness, Autosomal Dominant, Type 7
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1	Van Der Knaap Disease Leukoencephalopathy With Swelling And Cysts MLC1 Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Lvm Vl Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1 Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1 Megalencephalic Leukoencephalopathy With Subcortical Cysts
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Alexander Disease	Alexander'S Disease ALXDRD Alexanders Leukodystrophy Axd Demyelinogenic Leukodystrophy Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia Alx Dysmyelinogenic Leukodystrophy Fibrinoid Degeneration Of Astrocytes Leukodystrophy With Rosenthal Fibers Alexander Disease Type Ii Axd Type Ii Alexander Disease Type I Axd Type I Alexanders Disease Alexander'S Leukodystrophy
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Autoimmune Disease Of Peripheral Nervous System
Peripheral Vertigo	Vertigo, Peripheral
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Retinal Degeneration	Degeneration Of Retina
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
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
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 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.	Product Name	Effect	Purity	Rare Diseases
HY-RS07137	KCNJ10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCNJ10	MGD	MGI:1194504
Rattus norvegicus	KCNJ10	RGD	RGD:61822
Macaca mulatta	KCNJ10	VGNC	VGNC:99986
Felis catus	KCNJ10	VGNC	VGNC:107886
Bos taurus	KCNJ10	VGNC	VGNC:30454
Others	KCNJ10	NCBI