Details for: KCNJ8

Gene ID: 3764

Symbol: KCNJ8

Ensembl ID: ENSG00000121361

Description: potassium inwardly rectifying channel subfamily J member 8

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 81.8411
    Cell Significance Index: -12.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.0703
    Cell Significance Index: -12.7000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.3410
    Cell Significance Index: -12.7500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.2361
    Cell Significance Index: -12.7700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.8579
    Cell Significance Index: 45.8500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.8932
    Cell Significance Index: 66.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.8251
    Cell Significance Index: 58.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.4198
    Cell Significance Index: 30.7600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.2588
    Cell Significance Index: 18.9700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.1672
    Cell Significance Index: 29.1800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.8953
    Cell Significance Index: 7.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.3886
    Cell Significance Index: 23.8300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.3373
    Cell Significance Index: 8.1700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3373
    Cell Significance Index: 25.8900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.2792
    Cell Significance Index: 4.6000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2169
    Cell Significance Index: 9.8300
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.1982
    Cell Significance Index: 0.9200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1856
    Cell Significance Index: 11.1500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1470
    Cell Significance Index: 3.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1381
    Cell Significance Index: 26.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1145
    Cell Significance Index: 15.7200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1098
    Cell Significance Index: 11.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1039
    Cell Significance Index: 10.2800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0716
    Cell Significance Index: 1.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0693
    Cell Significance Index: 11.8400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0682
    Cell Significance Index: 11.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0555
    Cell Significance Index: 50.1100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0522
    Cell Significance Index: 0.7700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0422
    Cell Significance Index: 8.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0406
    Cell Significance Index: 18.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0380
    Cell Significance Index: 7.6200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0310
    Cell Significance Index: 3.9700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0212
    Cell Significance Index: 1.4700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0084
    Cell Significance Index: 0.1300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0038
    Cell Significance Index: 2.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0009
    Cell Significance Index: -0.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0017
    Cell Significance Index: -3.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0035
    Cell Significance Index: -2.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0094
    Cell Significance Index: -0.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0111
    Cell Significance Index: -7.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0131
    Cell Significance Index: -7.3700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0138
    Cell Significance Index: -10.1500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0154
    Cell Significance Index: -0.2600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0171
    Cell Significance Index: -4.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0220
    Cell Significance Index: -4.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0231
    Cell Significance Index: -3.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0237
    Cell Significance Index: -12.9700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0275
    Cell Significance Index: -0.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0325
    Cell Significance Index: -11.6500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0326
    Cell Significance Index: -3.7200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0376
    Cell Significance Index: -1.9000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0473
    Cell Significance Index: -0.9900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0570
    Cell Significance Index: -10.2700
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.0760
    Cell Significance Index: -0.4000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0800
    Cell Significance Index: -9.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0803
    Cell Significance Index: -10.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0835
    Cell Significance Index: -6.2200
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0863
    Cell Significance Index: -1.0500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0868
    Cell Significance Index: -1.8000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0921
    Cell Significance Index: -11.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0930
    Cell Significance Index: -9.5000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1059
    Cell Significance Index: -3.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1098
    Cell Significance Index: -11.4400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1314
    Cell Significance Index: -1.9400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1319
    Cell Significance Index: -5.4000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1396
    Cell Significance Index: -3.6700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1432
    Cell Significance Index: -11.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1478
    Cell Significance Index: -4.1300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1664
    Cell Significance Index: -7.8200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1666
    Cell Significance Index: -10.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1817
    Cell Significance Index: -12.2200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1831
    Cell Significance Index: -5.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2045
    Cell Significance Index: -7.1100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2138
    Cell Significance Index: -12.0000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2230
    Cell Significance Index: -2.8600
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.2253
    Cell Significance Index: -2.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2323
    Cell Significance Index: -5.9700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2339
    Cell Significance Index: -3.7100
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2414
    Cell Significance Index: -3.4300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2449
    Cell Significance Index: -12.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2587
    Cell Significance Index: -12.0600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2646
    Cell Significance Index: -9.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2770
    Cell Significance Index: -14.3900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2833
    Cell Significance Index: -8.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2957
    Cell Significance Index: -9.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3218
    Cell Significance Index: -14.2400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3351
    Cell Significance Index: -8.3600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3453
    Cell Significance Index: -9.2200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3706
    Cell Significance Index: -9.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3739
    Cell Significance Index: -14.1600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3741
    Cell Significance Index: -4.2500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3848
    Cell Significance Index: -6.8000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3868
    Cell Significance Index: -16.8200
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.3922
    Cell Significance Index: -3.6300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3938
    Cell Significance Index: -7.6900
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.3952
    Cell Significance Index: -3.7600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3988
    Cell Significance Index: -14.6400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4020
    Cell Significance Index: -4.3700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4160
    Cell Significance Index: -10.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4202
    Cell Significance Index: -11.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KCNJ8 protein is an inwardly rectifying potassium channel, which means it allows potassium ions to flow into the cell more easily than they flow out. This property allows the protein to regulate the balance of potassium ions across the cell membrane, which is essential for maintaining proper cellular function. The KCNJ8 protein is also sensitive to ATP (adenosine triphosphate), a molecule that provides energy for various cellular processes. When ATP binds to the KCNJ8 protein, it closes the channel, reducing potassium ion flow into the cell. This mechanism helps regulate the electrical activity of the cell and maintain proper ion balance. **Pathways and Functions** The KCNJ8 protein is involved in various cellular pathways, including: 1. **Adaptive immune response**: KCNJ8 is expressed on conventional dendritic cells, which are critical for initiating immune responses. The protein helps regulate the electrical activity of these cells, enabling them to respond to pathogens and antigens. 2. **Apoptotic process**: KCNJ8 is involved in regulating the apoptosis (programmed cell death) of various cell types, including granulocyte monocyte progenitor cells and type II pneumocytes. 3. **Atrioventricular node cell differentiation**: KCNJ8 is expressed in the atrioventricular node, a region of the heart that regulates heart rate. The protein helps regulate the electrical activity of these cells, enabling proper heart rate regulation. 4. **Calcium ion transmembrane transport**: KCNJ8 is involved in regulating the transport of calcium ions across the cell membrane, which is essential for various cellular processes, including muscle contraction and neurotransmission. 5. **Camkk-ampk signaling cascade**: KCNJ8 is part of the Camkk-AMPK signaling cascade, which regulates energy metabolism and cellular homeostasis. **Clinical Significance** Dysregulation of the KCNJ8 gene has been implicated in various diseases, including: 1. **Hypertension**: KCNJ8 mutations have been associated with hypertension, a condition characterized by elevated blood pressure. 2. **Heart failure**: KCNJ8 dysfunction has been linked to heart failure, a condition characterized by impaired heart function. 3. **Neurological disorders**: KCNJ8 mutations have been associated with neurological disorders, including epilepsy and cognitive impairment. 4. **Cancer**: KCNJ8 is overexpressed in certain types of cancer, including colorectal cancer, and has been implicated in cancer progression. In summary, the KCNJ8 gene plays a critical role in maintaining cellular homeostasis and regulating various physiological processes. Dysregulation of the KCNJ8 gene has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2935084544

Symbol: KCNJ8_HUMAN

Name: ATP-sensitive inward rectifier potassium channel 8

UniProtKB Accession Codes:

Q15842 O00657

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 9 DrugCentral 1 ELM 1 EMBL 3 Ensembl 3 ExpressionAtlas 1 GO 60 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8595887

Title: cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8).

PubMed ID: 8595887

DOI: 10.1006/geno.1995.0018

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9573340

Title: Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel.

PubMed ID: 9573340

DOI: 10.1016/s0378-1119(98)00086-9

PubMed ID: 20153265

Title: J wave syndromes.

PubMed ID: 20153265

DOI: 10.1016/j.hrthm.2009.12.006

PubMed ID: 20558321

Title: Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.

PubMed ID: 20558321

DOI: 10.1016/j.hrthm.2010.06.016

PubMed ID: 24700710

Title: Cantu syndrome resulting from activating mutation in the KCNJ8 gene.

PubMed ID: 24700710

DOI: 10.1002/humu.22555

PubMed ID: 28842488

Title: Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

PubMed ID: 28842488

DOI: 10.1074/jbc.m117.804971

PubMed ID: 21836131

Title: Loss-of-function mutations in the KCNJ8-encoded Kir6.1 KATP channel and sudden infant death syndrome.

PubMed ID: 21836131

DOI: 10.1161/circgenetics.111.960195

PubMed ID: 24176758

Title: Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

PubMed ID: 24176758

DOI: 10.1016/j.ejmg.2013.09.009

Sequence Information:

  • Length: 424
  • Mass: 47968
  • Checksum: 973EAA5900C6447C
  • Sequence:
    • MLARKSIIPE EYVLARIAAE NLRKPRIRDR LPKARFIAKS GACNLAHKNI REQGRFLQDI 
FTTLVDLKWR HTLVIFTMSF LCSWLLFAIM WWLVAFAHGD IYAYMEKSGM EKSGLESTVC 
VTNVRSFTSA FLFSIEVQVT IGFGGRMMTE ECPLAITVLI LQNIVGLIIN AVMLGCIFMK 
TAQAHRRAET LIFSRHAVIA VRNGKLCFMF RVGDLRKSMI ISASVRIQVV KKTTTPEGEV 
VPIHQLDIPV DNPIESNNIF LVAPLIICHV IDKRSPLYDI SATDLANQDL EVIVILEGVV 
ETTGITTQAR TSYIAEEIQW GHRFVSIVTE EEGVYSVDYS KFGNTVKVAA PRCSARELDE 
KPSILIQTLQ KSELSHQNSL RKRNSMRRNN SMRRNNSIRR NNSSLMVPKV QFMTPEGNQN 
TSES

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.