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KCNJ12 - potassium inwardly rectifying channel subfamily J member 12 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3768

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	References	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	References	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	References	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

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 Set	/	Unkown

Orthologs Information

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