• Gene id: 3759

Gene Summary

• Gene Symbol: KCNJ2   Gene   UCSC   Ensembl
• Aliases: ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
• Gene name: potassium inwardly rectifying channel subfamily J member 2
• Alternate names: inward rectifier potassium channel 2, IRK-1, cardiac inward rectifier potassium channel, hIRK1, inward rectifier K+ channel KIR2.1, potassium channel, inwardly rectifying subfamily J, member 2, potassium voltage-gated channel subfamily J member 2,
• Gene location: 17q24.3 (70169531: 70180043)     Exons: 2     NC_000017.11
• Gene summary(Entrez): Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, whi
• OMIM: 600813

Protein Summary

• Protein general information: P63252  
  • Name: Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK 1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2)
  • Length: 427  
  • Mass: 48288
  • Tissue specificity: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
• Sequence:

  MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTT
  CVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCV
  TDECPIAVFMVVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEA
  HVRAQLLKSRITSEGEYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
  MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFC
  YENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRPLRRESEI

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003271  IPR013518   IPR013673  IPR040445  
  • PDB: 6SPZ
  • PDBsum: 6SPZ
  • STRING: ENSP00000243457
• Other Databases: GeneCards:  KCNJ2  Malacards:  KCNJ2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0034765	regulation of ion transmembrane transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005242	inward rectifier potassium channel activity	IBA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0005242	inward rectifier potassium channel activity	IDA	molecular function
GO:0006813	potassium ion transport	IDA	biological process
GO:0005242	inward rectifier potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IEA	biological process
GO:0015693	magnesium ion transport	IEA	biological process
GO:0086001	cardiac muscle cell action potential	IEA	biological process
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:1901381	positive regulation of potassium ion transmembrane transport	IEA	biological process
GO:0005242	inward rectifier potassium channel activity	IDA	molecular function
GO:0005242	inward rectifier potassium channel activity	IDA	molecular function
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0060306	regulation of membrane repolarization	IDA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086011	membrane repolarization during action potential	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	TAS	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	TAS	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IMP	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0014861	regulation of skeletal muscle contraction via regulation of action potential	IMP	biological process
GO:0030007	cellular potassium ion homeostasis	TAS	biological process
GO:0055119	relaxation of cardiac muscle	IMP	biological process
GO:0060075	regulation of resting membrane potential	TAS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0090076	relaxation of skeletal muscle	IMP	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04921	Oxytocin signaling pathway
hsa04725	Cholinergic synapse
hsa04971	Gastric acid secretion
hsa04924	Renin secretion

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Periodic paralysis	KEGG:H00215
Short QT syndrome	KEGG:H00725
Andersen-Tawil syndrome	KEGG:H00748
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Periodic paralysis	KEGG:H00215
Short QT syndrome	KEGG:H00725
Andersen-Tawil syndrome	KEGG:H00748
Atrial fibrillation	PMID:23543060
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray