• Gene id: 3766

Gene Summary

• Gene Symbol: KCNJ10   Gene   UCSC   Ensembl
• Aliases: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME
• Gene name: potassium inwardly rectifying channel subfamily J member 10
• Alternate names: ATP-sensitive inward rectifier potassium channel 10, ATP-dependent inwardly rectifying potassium channel Kir4.1, glial ATP-dependent inwardly rectifying potassium channel KIR4.1, inward rectifier K(+) channel Kir1.2, inward rectifier K+ channel KIR1.2, potassi,
• Gene location: 1q23.2 (160070159: 160037466)     Exons: 2     NC_000001.11
• Gene summary(Entrez): 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 cha
• OMIM: 602208

SNPs

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

Protein Summary

• Protein general information: P78508  
  • Name: ATP sensitive inward rectifier potassium channel 10 (ATP dependent inwardly rectifying potassium channel Kir4.1) (Inward rectifier K(+) channel Kir1.2) (Potassium channel, inwardly rectifying subfamily J member 10)
  • Length: 379  
  • Mass: 42508
  • Tissue specificity: Expressed in kidney (at protein level). {ECO
• Sequence:

  MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATF
  AGTWFLFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQ
  LVLTTILEIFITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKE
  GENIRLNQVNVTFQVDTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSY
  LPEEILWGYEFTPAISLSASGKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVR
  ISNV

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003269  IPR013518   IPR040445  
  • STRING: ENSP00000357068
• Other Databases: GeneCards:  KCNJ10  Malacards:  KCNJ10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044297	cell body	ISS	cellular component
GO:0097449	astrocyte projection	ISS	cellular component
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: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:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0015272	ATP-activated inward rectifier potassium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006813	potassium ion transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005242	inward rectifier potassium channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0051935	glutamate reuptake	IEA	biological process
GO:0055075	potassium ion homeostasis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0022010	central nervous system myelination	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0060075	regulation of resting membrane potential	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0097449	astrocyte projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04971	Gastric acid secretion

Diseases

Associated diseases	References
Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance	KEGG:H00803
Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance	KEGG:H00803
EAST syndrome	PMID:19420365
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq