KCNJ10 Gene

Aliases
for KCNJ10 gene

Previous GC identifers: GC01M157802 GC01M155740 GC01M156785 GC01M157224 GC01M156821 GC01M158273 GC01M131363

Summaries
for KCNJ10 gene

Genomic Views
for KCNJ10 gene

RefSeq DNA sequence:

NC_000001.10  NC_018912.1  NT_004487.19  

SwitchGear Promoter luciferase reporter plasmid: KCNJ10 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ10

KCNJ10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M160007:  view genomic region     (about GC identifiers)

Proteins
for KCNJ10 gene

Explore the universe of human proteins at neXtProt for KCNJ10: NX_P78508

Post-translational modifications:

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	Uscn Proteins for KCNJ10

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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	Uscn ELISAs and CLIAs for KCNJ10

Protein Domains /
Families
for KCNJ10 gene

ProtoNet protein and cluster: P78508

Function
for KCNJ10 gene

     Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

(inferred from 2 alleles) (MGI details for Kcnj10)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KCNJ10

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		hsa-miR-3152-3p hsa-miR-3194-5p hsa-miR-631 hsa-miR-199a-3p hsa-miR-106a hsa-miR-578 hsa-miR-519a hsa-miR-3916
		SwitchGear 3'UTR luciferase reporter plasmid: KCNJ10 3' UTR sequence

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ10

Pathways & Interactions
for KCNJ10 gene

	Super-pathway	contained gene-specific pathways
1	Inwardly rectifying K+ channels	Inwardly rectifying K+ channels 1.00 G protein gated Potassium channels 0.81 Activation of G protein gated Potassium channels 0.81 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits 0.81
2	Activation of GABAB receptors	Activation of GABAB receptors 1.00 GABA receptor activation 0.72 GABA B receptor activation 1.00
3	Transmission across Chemical Synapses	Transmission across Chemical Synapses 1.00 Neuronal System 0.67 Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell 0.72
4	Potassium Channels	Potassium Channels 1.00
5	Potassium transport channels	Potassium transport channels 1.00

1 EMD Millipore Pathway for KCNJ10

Potassium transporters- inward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ10

Dopamine-DARPP32 Feedback onto cAMP Pathway

5/12        Reactome Pathways for KCNJ10

	Transmission across Chemical Synapses
	G protein gated Potassium channels
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
	Inwardly rectifying K+ channels

1         Kegg Pathway  (Kegg details for KCNJ10)

Gastric acid secretion

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

Drugs & Compounds
for KCNJ10 gene

Transcripts
for KCNJ10 gene

Expression
for KCNJ10 gene

KCNJ10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGCTTTTG

About this image

KCNJ10 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeInner Nuclear LayerMature Muller Glia Cells			Muller Glia, Retina
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ10

Orthologs
for KCNJ10 gene

Paralogs
for KCNJ10 gene

Paralogs for KCNJ10 gene

KCNJ4²  KCNJ9²  KCNJ16²  KCNJ8²  KCNJ1²  KCNJ12²  KCNJ15²  KCNJ5²  

KCNJ6²  KCNJ2²  KCNJ14²  KCNJ3²  KCNJ11²  

16 SIMAP similar genes for KCNJ10 using alignment to 3 protein entries:     IRK10_HUMAN (see all proteins):

KCNJ1    KCNJ15    KCNJ3    KCNJ5    KCNJ12    kcnj12x

KCNJ6    KCNJ11    KCNJ18    KCNJ2    KCNJ9    KCNJ14

KCNJ16    KCNJ13    KCNJ4    KCNJ8

KCNJ10 for paralogs           About GeneDecksing

Genomic Variants
for KCNJ10 gene

10/573 NCBI SNPs in KCNJ10 are shown (see all 573)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1378530741,2	C	pathogenic	134164912(-)	CTGTAC/TGCTAC	2	R C	mis1		0	--	--	--	--
rs168313051,2	C,F,H	--	131363640(+)	ATATAA/GGGAAA	1	--	ds5001		13		NA NS EA CSA WA	1450
rs771751571,2		--	131363752(+)	GATTAA/CGCTGA	1	--	ds5001		1		WA	118
rs767247321,2		--	131364002(+)	GTCATC/GCATTT	1	--	ut31		0	--	--	--	--
rs790128311,2		--	131364404(+)	ATTTCA/GGAAGC	1	--	ut31		0	--	--	--	--
rs748550571,2		--	131364660(+)	TAGTGC/GCTCCC	1	--	ut31		2		CSA WA	120
rs753056131,2		--	131365475(+)	TGATAT/CTCCAA	1	--	ut31		1		EA	120
rs1151208911,2	C,F	--	131365668(+)	TTAATA/GGGACA	1	--	ut31		1		WA	118
rs752821711,2		--	131365762(+)	CTCACT/CGTTTC	1	--	ut31		1		EA	120
rs2015064261,2	C	--	131366018(+)	TCTTGG/TCNNNN	1	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for KCNJ10 (160007257 - 160040051 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KCNJ10
     1 Indel: 59961
Human Gene Mutation Database (HGMD): KCNJ10

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNJ10

DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ10

Disorders / Diseases
for KCNJ10 gene

Publications
for KCNJ10 gene

PubMed articles for KCNJ10 gene, integrated from 9 sources (see all 49): (articles sorted by number of sources associating them with KCNJ10)

Utopia: connect your pdf to the dynamic world of online information

1. Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). (PubMed id 8995301)^{1, 2, 3} Shuck M.E....Bienkowski M.J. (1997)
2. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. (PubMed id 19420365)^{1, 2} Bockenhauer D....Kleta R. (2009)
3. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. (PubMed id 19289823)^{1, 2} Scholl U.I.... Lifton R.P. (2009)
4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
5. International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)^{1, 3} Kubo Y....Vandenberg C.A. (2005)
6. Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. (PubMed id 15725393)^{1, 4} Lenzen K.P....Sander T. (2005)
7. Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. (PubMed id 15120748)^{1, 4} Buono R.J....Ferraro T.N. (2004)
8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
9. Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians. (PubMed id 12401729)^{1, 4} Farook V.S....Prochazka M. (2002)
10. Co-expression of human Kir3 subunits can yield channels with different functional properties. (PubMed id 10659995)^{1, 2} Schoots O....Van Tol H.H.M. (1999)

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