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FLASH GENE

Symbol

KCNJ10

contributors: mct - updated : 10-12-2014

HGNC name	potassium inwardly-rectifying channel, subfamily J, member 10
HGNC id	6256

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SESAME seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome
Location	1q23.2      Physical location : 160.007.257 - 160.040.051
Synonym name	glial inwardly rectifying potassium channel
	inward rectifier K+ channel KIR1.2
	ATP-dependent inwardly rectifying potassium channel Kir4.1
Synonym symbol(s)	KCNJ13, KIR1.2, KIR4.1, BIRK-10, KCNJ13-PEN

DNA

TYPE	anonymous DNA segment
SPECIAL FEATURE	arranged in tandem
text	arranged in tandem with KCNJ9
STRUCTURE	31.92 kb     2 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002241 2 - 5323 NP_002232 - 379 - 2009 19420365

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner vestibule     Mus musculus Nervous brain         Homo sapiens   spinal cord         Urinary kidney tubule collecting duct   highly Homo sapiens   kidney tubule convoluted tubule   highly Homo sapiens Visual eye anterior segment cornea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Epithelial sensory visual     Nervous central gray matter

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium epithelial cell Mus musculus Nervous astrocyte Homo sapiens Nervous glia Homo sapiens Nervous oligodendrocyte Homo sapiens Visual epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two membrane-spanning domains
	an amphipatic region pore, including the P domain with the K+ channel signature
	an ATP-binding regulatory domain

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY	inward rectifier-type potassium channel family
	potassium channel subfamily J

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the development of spinal cord and in the regulation of crucial steps during the maturation of oligodendrocytes
	key regulator of glial functions, which in turn determine neuronal excitability and axonal conduction
	role of KCNJ10 function in the physiology of proximal and possibly also the distal human retina
	KCNJ10 channels are involved in the control of acid secretion, suggesting that they may also affect secretory membrane recycling
	mediates spatial K(+)-buffering in the CNS
	tyrosine phosphorylation of KCNJ10 plays a role in regulating membrane transport in distal convoluted tubule (DCT1)
	plays a dominant role in determining the basolateral K conductance and membrane potential of early distal convoluted tubule (DCT1)
	is a main K(+) channel expressed in corneal epithelial cells and the inhibition of KCNJ10 resulted in depolarization, which in turn induced an EGF-like effect

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming heterotetramers with Kir4.2 (KCNJ5) and Kir5.1 (KCNJ16)
	KCNJ10 and KCNJ16, form a heterotetramer in the basolateral membrane of the distal convoluted tubule (DCT)

INTERACTION

DNA

RNA

small molecule

protein	interacts directly with CASR and KCNJ15 and can decrease their currents, which in turn could reduce recycling of K(+) for the basolateral Na(+)-K(+)-ATPase and thereby contribute to inhibition of Na(+) reabsorption
	is a main contributor to the basolateral K conductance in the early distal convoluted tubule (DCT1) and determines the expression of the apical SLC12A3 in the DCT

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SESAME

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in severe hypomyelination constitutional germinal mutation       associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with enlarged vestibular aqueduct

Susceptibility

to general seizures to common types of childhood epilepsy

Variant & Polymorphism SNP , other	increasing the risk of general seizures
	G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice deficient for KCNJ10 show a related phenotype with seizures, ataxia, and hearing loss, further supporting KCNJ10's role in this syndrome