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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.99
    Marker Score: 1987
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1164
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.53
    Marker Score: 1055
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169165
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 865
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.15
    Marker Score: 280
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4806
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 499
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251797
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.04
    Marker Score: 6751
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.01
    Marker Score: 2225
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.01
    Marker Score: 15744
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.97
    Marker Score: 658
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.94
    Marker Score: 2223
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.94
    Marker Score: 390
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5346
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.85
    Marker Score: 460
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.83
    Marker Score: 486
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.81
    Marker Score: 796
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 620
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.8
    Marker Score: 5322
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.79
    Marker Score: 1488
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.77
    Marker Score: 709
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.69
    Marker Score: 790
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.67
    Marker Score: 177
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.66
    Marker Score: 1022
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.66
    Marker Score: 1390
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.61
    Marker Score: 267
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.61
    Marker Score: 974
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.6
    Marker Score: 728
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.6
    Marker Score: 423
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 394.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 376
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.58
    Marker Score: 2491
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.52
    Marker Score: 148
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.52
    Marker Score: 116
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.51
    Marker Score: 119
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 471
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.49
    Marker Score: 1272
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.48
    Marker Score: 768
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.47
    Marker Score: 10597
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.47
    Marker Score: 117
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.46
    Marker Score: 159
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.46
    Marker Score: 4348
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.45
    Marker Score: 296
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 444
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.43
    Marker Score: 699
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.43
    Marker Score: 407
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.42
    Marker Score: 525
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.42
    Marker Score: 94
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.4
    Marker Score: 287
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.39
    Marker Score: 747
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.38
    Marker Score: 2288
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.38
    Marker Score: 124
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.38
    Marker Score: 3787
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.37
    Marker Score: 361
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.37
    Marker Score: 458
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 369
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.36
    Marker Score: 91
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.35
    Marker Score: 218
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.34
    Marker Score: 21192
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.34
    Marker Score: 3870
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.34
    Marker Score: 192
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.34
    Marker Score: 161
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.32
    Marker Score: 3044
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.32
    Marker Score: 94
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.32
    Marker Score: 5130
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.32
    Marker Score: 985
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 0.31
    Marker Score: 177
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.31
    Marker Score: 4105
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.3
    Marker Score: 397
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.3
    Marker Score: 629
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.29
    Marker Score: 121
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.29
    Marker Score: 109
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.29
    Marker Score: 195
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.28
    Marker Score: 73
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.28
    Marker Score: 2340
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.27
    Marker Score: 100
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.27
    Marker Score: 92
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.26
    Marker Score: 1100
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.26
    Marker Score: 526
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.26
    Marker Score: 487
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.26
    Marker Score: 59

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Other Information

**Key characteristics:** - KCNJ8 is a transmembrane protein that is expressed in the plasma membrane. - It is a member of the potassium inwardly rectifying channel superfamily. - KCNJ8 is a protein that is highly expressed in the kidney. - It is a key regulator of cardiac muscle cell function. - It is also involved in the regulation of blood-brain barrier function. **Pathways and functions:** - KCNJ8 is involved in the adaptive immune response. It is expressed in cells that are involved in the immune response, such as enterocytes and macrophages. KCNJ8 is thought to be involved in the regulation of the immune response by controlling the flow of potassium ions into cells. - KCNJ8 is involved in cardiac muscle cell function. It is expressed in heart muscle cells, where it is involved in the regulation of cardiac contractility. - KCNJ8 is also involved in blood-brain barrier regulation. It is expressed in endothelial cells of blood-brain barriers, where it is involved in the regulation of water and solute transport across the blood-brain barrier. **Clinical significance:** Mutations in KCNJ8 have been linked to a number of human diseases, including kidney disease, hypertension, and heart disease. These diseases are characterized by abnormal potassium homeostasis, which can be caused by defects in KCNJ8.

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 Genevisible 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 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 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. For the full schema, download it here.