• Gene id: 3761

Gene Summary

• Gene Symbol: KCNJ4   Gene   UCSC   Ensembl
• Aliases: HIR, HIRK2, HRK1, IRK-3, IRK3, Kir2.3
• Gene name: potassium inwardly rectifying channel subfamily J member 4
• Alternate names: inward rectifier potassium channel 4, hippocampal inward rectifier potassium channel, inward rectifier K(+) channel Kir2.3, potassium channel, inwardly rectifying subfamily J, member 4, potassium voltage-gated channel subfamily J member 4,
• Gene location: 22q13.1 (38455198: 38426326)     Exons: 3     NC_000022.11
• Gene summary(Entrez): Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they
• OMIM: 602630

Protein Summary

• Protein general information: P48050  
  • Name: Inward rectifier potassium channel 4 (HIRK2) (HRK1) (Hippocampal inward rectifier) (HIR) (Inward rectifier K(+) channel Kir2.3) (IRK 3) (Potassium channel, inwardly rectifying subfamily J member 4)
  • Length: 445  
  • Mass: 49500
  • Tissue specificity: Heart, skeletal muscle, and several different brain regions including the hippocampus.
• Sequence:

  MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLMIFSAAFLVSWLFFGL
  LFWCIAFFHGDLEASPGVPAAGGPAAGGGGAAPVAPKPCIMHVNGFLGAFLFSVETQTTIGYGFRCVTEECPLAV
  IAVVVQSIVGCVIDSFMIGTIMAKMARPKKRAQTLLFSHHAVISVRDGKLCLMWRVGNLRKSHIVEAHVRAQLIK
  PYMTQEGEYLPLDQRDLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMT
  TQARSSYLASEILWGHRFEPVVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITVLPAPPPPPSAFCYEN
  ELALMSQEEEEMEEEAAAAAAVAAGLGLEAGSKEEAGIIRMLEFGSHLDLERMQASLPLDNISYRRESAI

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003273  IPR013518   IPR040445  
  • PDB: 3GJ9
  • PDBsum: 3GJ9
  • STRING: ENSP00000306497
• Other Databases: GeneCards:  KCNJ4  Malacards:  KCNJ4

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005242	inward rectifier potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005242	inward rectifier potassium channel activity	IBA	molecular function
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:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005242	inward rectifier potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005242	inward rectifier potassium channel activity	IBA	molecular function
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:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04921	Oxytocin signaling pathway
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq