Details for: KCNJ5

Gene ID: 3762

Symbol: KCNJ5

Ensembl ID: ENSG00000120457

Description: potassium inwardly rectifying channel subfamily J member 5

Associated with

  • Activation of gabab receptors
    (R-HSA-991365)
  • Activation of g protein gated potassium channels
    (R-HSA-1296041)
  • Gaba b receptor activation
    (R-HSA-977444)
  • Gaba receptor activation
    (R-HSA-977443)
  • G protein gated potassium channels
    (R-HSA-1296059)
  • Inhibition of voltage gated ca2+ channels via gbeta/gamma subunits
    (R-HSA-997272)
  • Inwardly rectifying k+ channels
    (R-HSA-1296065)
  • Neuronal system
    (R-HSA-112316)
  • Neurotransmitter receptors and postsynaptic signal transmission
    (R-HSA-112314)
  • Potassium channels
    (R-HSA-1296071)
  • Transmission across chemical synapses
    (R-HSA-112315)
  • G-protein activated inward rectifier potassium channel activity
    (GO:0015467)
  • Inward rectifier potassium channel activity
    (GO:0005242)
  • Membrane repolarization during atrial cardiac muscle cell action potential
    (GO:0098914)
  • Membrane repolarization during ventricular cardiac muscle cell action potential
    (GO:0098915)
  • Plasma membrane
    (GO:0005886)
  • Potassium ion import across plasma membrane
    (GO:1990573)
  • Potassium ion transport
    (GO:0006813)
  • Protein binding
    (GO:0005515)
  • Regulation of heart rate by cardiac conduction
    (GO:0086091)
  • Regulation of monoatomic ion transmembrane transport
    (GO:0034765)
  • Ventricular cardiac muscle cell membrane repolarization
    (GO:0099625)
  • Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
    (GO:0086089)
  • Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
    (GO:1902282)
  • Voltage-gated potassium channel complex
    (GO:0008076)

Cells (max top 100)

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

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1173
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.3
    Marker Score: 2650
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 858
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.25
    Marker Score: 689.5
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.24
    Marker Score: 12521
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 488
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4821
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.08
    Marker Score: 684
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16419
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 799
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5338
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.83
    Marker Score: 382
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.8
    Marker Score: 258
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.75
    Marker Score: 1427
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.73
    Marker Score: 885
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 464
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.7
    Marker Score: 657
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.58
    Marker Score: 11491
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.51
    Marker Score: 301
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.49
    Marker Score: 8703
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.44
    Marker Score: 209
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.44
    Marker Score: 164
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.43
    Marker Score: 137
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.43
    Marker Score: 136
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.4
    Marker Score: 840
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.4
    Marker Score: 533
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.39
    Marker Score: 122
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.39
    Marker Score: 203
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.37
    Marker Score: 123
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.36
    Marker Score: 747
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.35
    Marker Score: 428
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.35
    Marker Score: 1456
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.32
    Marker Score: 511
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.31
    Marker Score: 1118
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.31
    Marker Score: 752
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.3
    Marker Score: 183
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.3
    Marker Score: 1262
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.29
    Marker Score: 289.5
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.29
    Marker Score: 76
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.28
    Marker Score: 1054
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.28
    Marker Score: 6186
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.27
    Marker Score: 496
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.26
    Marker Score: 126
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.25
    Marker Score: 64
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.24
    Marker Score: 264
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.23
    Marker Score: 95
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.23
    Marker Score: 251
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.23
    Marker Score: 531
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.22
    Marker Score: 80
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.22
    Marker Score: 109
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.21
    Marker Score: 50
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.2
    Marker Score: 524
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.19
    Marker Score: 1260
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.19
    Marker Score: 239
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.17
    Marker Score: 463
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.16
    Marker Score: 972
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.16
    Marker Score: 503
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 96
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.15
    Marker Score: 250
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.14
    Marker Score: 95
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.14
    Marker Score: 1873
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.14
    Marker Score: 223
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.14
    Marker Score: 74
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.14
    Marker Score: 45
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.13
    Marker Score: 121
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.13
    Marker Score: 557
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.13
    Marker Score: 59
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.13
    Marker Score: 141
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.13
    Marker Score: 61
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.13
    Marker Score: 126
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 0.12
    Marker Score: 68
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.11
    Marker Score: 59
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.11
    Marker Score: 64
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.11
    Marker Score: 109
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.11
    Marker Score: 43
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.11
    Marker Score: 1692
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.1
    Marker Score: 58
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1
    Marker Score: 104
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.1
    Marker Score: 66

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Other Information

**Key characteristics:** * KCNJ5 is a transmembrane protein that is expressed in the plasma membrane. * It is a member of the potassium inwardly rectifying channel family of proteins. * It is a G protein-activated inward rectifier potassium channel. * It is significantly expressed in cardiac muscle cells. **Pathways and functions:** * KCNJ5 is involved in the regulation of heart rate by controlling the opening and closing of potassium channels in the heart. * It is activated by G protein-mediated signaling pathways. * It is involved in the inhibition of voltage-gated calcium channels, which can lead to a decrease in heart rate. * It is also involved in the regulation of monoatomic ion transmembrane transport, which can also affect heart rate. **Clinical significance:** * Mutations in the KCNJ5 gene have been linked to a number of human diseases, including hyperkalemia, heart failure, and stroke. * KCNJ5 is a potential therapeutic target for these diseases. **Other important points:** * KCNJ5 is a highly conserved protein, with a sequence that is similar in humans and mice. * It is a key player in the regulation of cardiac function. * It is a potential target for the treatment of a variety of cardiovascular diseases.

Genular Protein ID: 59207568

Symbol: KCNJ5_HUMAN

Name: G protein-activated inward rectifier potassium channel 4

UniProtKB Accession Codes:

P48544 B2R744 Q6DK13 Q6DK14 Q92807

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 13 EMDB 2 Ensembl 3 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 1 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 2 RefSeq 3 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: 8047164

Title: Cloning and functional expression of a rat heart KATP channel.

PubMed ID: 8047164

DOI: 10.1038/370456a0

PubMed ID: 8524415

Title:

PubMed ID: 8524415

DOI: 10.1038/378792a0

PubMed ID: 8558261

Title: A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels.

PubMed ID: 8558261

DOI: 10.1523/jneurosci.16-03-00930.1996

PubMed ID: 10659995

Title: Co-expression of human Kir3 subunits can yield channels with different functional properties.

PubMed ID: 10659995

DOI: 10.1016/s0898-6568(99)00059-5

PubMed ID: 8834003

Title: Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel.

PubMed ID: 8834003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 21311022

Title: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

PubMed ID: 21311022

DOI: 10.1126/science.1198785

PubMed ID: 20560207

Title: Identification of a Kir3.4 mutation in congenital long QT syndrome.

PubMed ID: 20560207

DOI: 10.1016/j.ajhg.2010.04.017

PubMed ID: 22315453

Title: Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

PubMed ID: 22315453

DOI: 10.1210/en.2011-1733

PubMed ID: 22203740

Title: KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

PubMed ID: 22203740

DOI: 10.1161/hypertensionaha.111.183996

PubMed ID: 22275527

Title: Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

PubMed ID: 22275527

DOI: 10.1161/hypertensionaha.111.186478

PubMed ID: 22628607

Title: A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

PubMed ID: 22628607

DOI: 10.1210/jc.2012-1334

PubMed ID: 22848660

Title: Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

PubMed ID: 22848660

DOI: 10.1371/journal.pone.0041926

PubMed ID: 22308486

Title: Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

PubMed ID: 22308486

DOI: 10.1073/pnas.1121407109

PubMed ID: 24037882

Title: a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

PubMed ID: 24037882

DOI: 10.1210/jc.2013-2428

PubMed ID: 27293068

Title: Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.

PubMed ID: 27293068

DOI: 10.1111/cen.13132

PubMed ID: 27099398

Title: Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

PubMed ID: 27099398

DOI: 10.1530/jme-15-0324

Sequence Information:

  • Length: 419
  • Mass: 47668
  • Checksum: 7C14A6B0B7EA0FD4
  • Sequence:
    • MAGDSRNAMN QDMEIGVTPW DPKKIPKQAR DYVPIATDRT RLLAEGKKPR QRYMEKSGKC 
NVHHGNVQET YRYLSDLFTT LVDLKWRFNL LVFTMVYTVT WLFFGFIWWL IAYIRGDLDH 
VGDQEWIPCV ENLSGFVSAF LFSIETETTI GYGFRVITEK CPEGIILLLV QAILGSIVNA 
FMVGCMFVKI SQPKKRAETL MFSNNAVISM RDEKLCLMFR VGDLRNSHIV EASIRAKLIK 
SRQTKEGEFI PLNQTDINVG FDTGDDRLFL VSPLIISHEI NQKSPFWEMS QAQLHQEEFE 
VVVILEGMVE ATGMTCQARS SYMDTEVLWG HRFTPVLTLE KGFYEVDYNT FHDTYETNTP 
SCCAKELAEM KREGRLLQYL PSPPLLGGCA EAGLDAEAEQ NEEDEPKGLG GSREARGSV

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.