KCNJ12 - potassium inwardly rectifying channel subfamily J member 12 Gene

Homo sapiens

Also known as IRK2; hIRK; IRK-2; hIRK1; KCNJN1; Kir2.2; kcnj12x; hkir2.2x

Gene ID: 3768 | Gene type: protein coding

About KCNJ12

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:21,376,357-21,419,870 (from NCBI)

This gene has 2 transcripts (splice variants), 251 orthologues and 15 paralogues. Broad expression in heart (RPKM 2.3), brain (RPKM 1.4) and 20 other tissues.

Summary

This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

KCNJ12 Products(1)

mRNA	Protein	Name
NM_021012.5	NP_066292.2	ATP-sensitive inward rectifier potassium channel 12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	20921230	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24550280	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in potassium ion transport	IDA IDA: Inferred from direct assay	20921230	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	21874019	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	20921230	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

KCNJ12 Protein Structure

IRK_N

IRK

0
100
200
300
400
433 a.a.

Protein Preferred Names

Protein Names

ATP-sensitive inward rectifier potassium channel 12

potassium channel, inwardly rectifying subfamily J, member 12

Related Diseases

Diseases

Alias

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

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

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

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

Long Qt Syndrome 9

LQT9	Long Qt Syndrome-9
Qt Syndrome, Long, Type 9

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis	Fhl
Familial Erythrophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome
FHL1	Hplh1
Hlh1	Fel
Familial Hemophagocytic Lymphohistiocytosis 1	Primary Hemophagocytic Lymphohistiocytosis
Familial Hlh	Hlh
Familial Hemophagocytic Lymphocytosis	Hemophagocytic Lymphohistiocytosis, Familial
Reticulosis, Familial Histiocytic	Hemophagocytic Reticulosis, Familial
Erythrophagocytic Lymphohistiocytosis, Familial	Familial Histiocytic Reticulosis
Familial Hemophagocytic Histiocytosis	Familial Hemophagocytic Reticulosis
Fhlh	Hplh
Primary Hemophagocytic Hymphohistiocytosis	Genetic Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis Type 1

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

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

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

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

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]

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-RS07139	KCNJ12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCNJ12	MGD	MGI:108495
Rattus norvegicus	KCNJ12	RGD	RGD:621660

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