KCNJ10

KCNJ10

Identifiers

KCNJ10, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, potassium voltage-gated channel subfamily J member 10, potassium inwardly rectifying channel subfamily J member 10

External IDs

OMIM: 602208; MGI: 1194504; HomoloGene: 1689; GeneCards: KCNJ10; OMA:KCNJ10 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1q23.2	Start	159,998,651 bp^[1]
Band	1q23.2	End	160,070,160 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1 H3\|1 79.69 cM	Start	172,168,777 bp^[2]
Band	1 H3\|1 79.69 cM	End	172,201,652 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

C1 segment

internal globus pallidus

inferior ganglion of vagus nerve

external globus pallidus

pars reticulata

subthalamic nucleus

nucleus accumbens

endothelial cell

caudate nucleus

Pars compacta

Top expressed in

deep cerebellar nuclei

mammillary body

medial vestibular nucleus

lateral geniculate nucleus

dorsal tegmental nucleus

medial dorsal nucleus

superior colliculus

substantia nigra

suprachiasmatic nucleus

ventromedial nucleus

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	nucleotide binding potassium channel activity voltage-gated ion channel activity protein binding ATP-activated inward rectifier potassium channel activity ATP binding G-protein activated inward rectifier potassium channel activity inward rectifier potassium channel activity
Cellular component	integral component of membrane membrane plasma membrane integral component of plasma membrane basolateral plasma membrane presynapse
Biological process	regulation of long-term neuronal synaptic plasticity central nervous system myelination regulation of membrane potential regulation of ion transmembrane transport ion transport potassium ion transport potassium ion homeostasis potassium ion transmembrane transport glutamate reuptake regulation of resting membrane potential oligodendrocyte development visual perception adult walking behavior potassium ion import across plasma membrane
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3766


16513

Ensembl


ENSG00000177807


ENSMUSG00000044708

UniProt


P78508


Q9JM63

RefSeq (mRNA)


NM_002241


NM_001039484 NM_020269

RefSeq (protein)


NP_002232


NP_001034573

Location (UCSC)

Chr 1: 160 – 160.07 Mb

Chr 1: 172.17 – 172.2 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.^[5]^[6]^[7]^[8]

YouTube Encyclopedic

1/5
Views:
17 847
1 697
10 493
373
7 921

Transcription

Function

This gene encodes a member of the inward rectifier-type potassium channel family, K_ir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. K_ir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.^[8]

EAST syndrome

Humans with mutations in the KCNJ10 gene that cause loss of function in related K⁺ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney.^[9] The K_ir4.1 channel is expressed in the Stria vascularis and is essential for formation of the endolymph, the fluid that surrounds the mechanosensitive stereocilia of the sensory hair cells that make hearing possible.^[10]

Rett Syndrome

Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2.^[11] MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.^[12]

Interactions

KCNJ10 has been shown to interact with Interleukin 16.^[13]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177807 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000044708 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, et al. (November 1997). "Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1". Genomics. 45 (3): 629–30. doi:10.1006/geno.1997.4957. PMID 9367690.
^ Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ (January 1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)". The Journal of Biological Chemistry. 272 (1): 586–93. doi:10.1074/jbc.272.1.586. PMID 8995301.
^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.
^ ^a ^b "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10".
^ Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365.
^ Nin F, Hibino H, Doi K, Suzuki T, Hisa Y, Kurachi Y (February 2008). "The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner ear". Proceedings of the National Academy of Sciences of the United States of America. 105 (5): 1751–6. Bibcode:2008PNAS..105.1751N. doi:10.1073/pnas.0711463105. PMC 2234216. PMID 18218777.
^ Kahanovitch U, Cuddapah VA, Pacheco NL, Holt LM, Mulkey DK, Percy AK, Olsen ML (January 2018). "MeCP2 Deficiency Leads to Loss of Glial Kir4.1". eNeuro. 5 (1): ENEURO.0194–17.2018. doi:10.1523/ENEURO.0194-17.2018. PMC 5818552. PMID 29464197.
^ Cresto N, Pillet LE, Billuart P, Rouach N (August 2019). "Do Astrocytes Play a Role in Intellectual Disabilities?". Trends in Neurosciences. 42 (8): 518–527. doi:10.1016/j.tins.2019.05.011. PMID 31300246. S2CID 195834131.
^ Kurschner C, Yuzaki M (September 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience. 19 (18): 7770–80. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.

External links

GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
KCNJ10+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

This page was last edited on 8 November 2023, at 08:48

From Wikipedia, the free encyclopedia