Details for: KCNH2

Gene ID: 3757

Symbol: KCNH2

Ensembl ID: ENSG00000055118

Description: potassium voltage-gated channel subfamily H member 2

Associated with

  • Cardiac conduction
    (R-HSA-5576891)
  • Muscle contraction
    (R-HSA-397014)
  • Neuronal system
    (R-HSA-112316)
  • Phase 3 - rapid repolarisation
    (R-HSA-5576890)
  • Potassium channels
    (R-HSA-1296071)
  • Voltage gated potassium channels
    (R-HSA-1296072)
  • C3hc4-type ring finger domain binding
    (GO:0055131)
  • Cardiac muscle contraction
    (GO:0060048)
  • Cell surface
    (GO:0009986)
  • Cellular response to xenobiotic stimulus
    (GO:0071466)
  • Delayed rectifier potassium channel activity
    (GO:0005251)
  • Identical protein binding
    (GO:0042802)
  • Inward rectifier potassium channel activity
    (GO:0005242)
  • Inward rectifier potassium channel complex
    (GO:1902937)
  • Membrane depolarization during action potential
    (GO:0086010)
  • Membrane repolarization
    (GO:0086009)
  • Membrane repolarization during action potential
    (GO:0086011)
  • Membrane repolarization during cardiac muscle cell action potential
    (GO:0086013)
  • Membrane repolarization during ventricular cardiac muscle cell action potential
    (GO:0098915)
  • Negative regulation of potassium ion export across plasma membrane
    (GO:1903765)
  • Negative regulation of potassium ion transmembrane transport
    (GO:1901380)
  • Perinuclear region of cytoplasm
    (GO:0048471)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of potassium ion transmembrane transport
    (GO:1901381)
  • Potassium ion export across plasma membrane
    (GO:0097623)
  • Potassium ion homeostasis
    (GO:0055075)
  • Potassium ion import across plasma membrane
    (GO:1990573)
  • Potassium ion transmembrane transport
    (GO:0071805)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of heart rate by cardiac conduction
    (GO:0086091)
  • Regulation of heart rate by hormone
    (GO:0003064)
  • Regulation of membrane potential
    (GO:0042391)
  • Regulation of membrane repolarization
    (GO:0060306)
  • Regulation of potassium ion transmembrane transport
    (GO:1901379)
  • Regulation of ventricular cardiac muscle cell membrane repolarization
    (GO:0060307)
  • Scaffold protein binding
    (GO:0097110)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Ubiquitin protein ligase binding
    (GO:0031625)
  • Ventricular cardiac muscle cell action potential
    (GO:0086005)
  • Voltage-gated potassium channel activity
    (GO:0005249)
  • Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
    (GO:0086008)
  • 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: erythroblast (CL0000765)
    Fold Change: 3.16
    Marker Score: 1974
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 2.01
    Marker Score: 1364
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2
    Marker Score: 2086
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1169
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.51
    Marker Score: 562
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.49
    Marker Score: 1115
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169513
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.32
    Marker Score: 20648
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.27
    Marker Score: 404
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.04
    Marker Score: 2104
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.01
    Marker Score: 1914.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71824
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48049
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.99
    Marker Score: 513
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.98
    Marker Score: 1984
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.95
    Marker Score: 2244
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • 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: 372
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.9
    Marker Score: 470
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.87
    Marker Score: 3619
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.84
    Marker Score: 31150
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.84
    Marker Score: 190
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.84
    Marker Score: 31899
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.83
    Marker Score: 3441
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.82
    Marker Score: 1704
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.82
    Marker Score: 18234
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.8
    Marker Score: 205
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 604
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 692
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.76
    Marker Score: 455
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.72
    Marker Score: 291
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.71
    Marker Score: 4226
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.71
    Marker Score: 856
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2954
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.7
    Marker Score: 5377
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.69
    Marker Score: 737
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.69
    Marker Score: 2809
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.69
    Marker Score: 650.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.68
    Marker Score: 286
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.68
    Marker Score: 214
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.67
    Marker Score: 2609
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.66
    Marker Score: 314
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.63
    Marker Score: 5374
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.61
    Marker Score: 9154
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.59
    Marker Score: 2099
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.56
    Marker Score: 5804
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.56
    Marker Score: 2593
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.56
    Marker Score: 247
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.55
    Marker Score: 207
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.54
    Marker Score: 5068
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.53
    Marker Score: 600.5
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.53
    Marker Score: 263
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.52
    Marker Score: 10262
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.52
    Marker Score: 555
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.51
    Marker Score: 791
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.51
    Marker Score: 1394
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.51
    Marker Score: 139
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.5
    Marker Score: 133
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.49
    Marker Score: 351
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.48
    Marker Score: 201
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.48
    Marker Score: 158
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.48
    Marker Score: 29303
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.44
    Marker Score: 963.5
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.43
    Marker Score: 4328
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.43
    Marker Score: 134
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 203
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.42
    Marker Score: 4020
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.42
    Marker Score: 205
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.41
    Marker Score: 661
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.4
    Marker Score: 208
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.39
    Marker Score: 257
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.38
    Marker Score: 182
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.38
    Marker Score: 96
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.37
    Marker Score: 371
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.37
    Marker Score: 647
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.36
    Marker Score: 114.5
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.36
    Marker Score: 160
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.35
    Marker Score: 151
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.34
    Marker Score: 143
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.34
    Marker Score: 2565
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.34
    Marker Score: 405
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.33
    Marker Score: 115
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.32
    Marker Score: 85
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.32
    Marker Score: 380
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.32
    Marker Score: 149
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.32
    Marker Score: 667
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.32
    Marker Score: 312

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - The KCNH2 gene is located on chromosome 19q21.1. - The protein is a member of the potassium voltage-gated channel subfamily H. - It is a transmembrane protein with a predicted molecular weight of approximately 140 kDa. - The protein is expressed in a variety of cell types, including erythroblast, proerythroblast, erythroid progenitor cell, colon goblet cell, P/D1 enteroendocrine cell, primitive red blood cell, mural cell, cardiac muscle myoblast, A2 amacrine cell, and GABAergic amacrine cell. **Pathways and functions:** - The KCNH2 gene product is a key component of the cardiac conduction pathway. It is expressed in cardiac muscle cells and is involved in the repolarization of cardiac action potentials. - The protein is also involved in delayed rectifier potassium channel activity, inward rectifier potassium channel activity, and muscle contraction. - It is involved in the regulation of cardiac excitability and contractility. **Clinical significance:** - Mutations in the KCNH2 gene have been linked to human diseases, including cardiac arrhythmias, heart failure, and vascular disease. - Inhibitors of the KCNH2 channel have been shown to be effective in treating these diseases.

Genular Protein ID: 3718779724

Symbol: KCNH2_HUMAN

Name: Potassium voltage-gated channel subfamily H member 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8159766

Title: A family of potassium channel genes related to eag in Drosophila and mammals.

PubMed ID: 8159766

DOI: 10.1073/pnas.91.8.3438

PubMed ID: 9600240

Title: Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

PubMed ID: 9600240

DOI: 10.1007/s004390050717

PubMed ID: 11374908

Title: Isolation of novel heart-specific genes using the BodyMap database.

PubMed ID: 11374908

DOI: 10.1006/geno.2001.6527

PubMed ID: 12431979

Title: Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells.

PubMed ID: 12431979

DOI: 10.1074/jbc.m210789200

PubMed ID: 18559421

Title: Identification of a posttranslational mechanism for the regulation of hERG1 K+ channel expression and hERG1 current density in tumor cells.

PubMed ID: 18559421

DOI: 10.1128/mcb.00304-08

PubMed ID: 19412172

Title: A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia.

PubMed ID: 19412172

DOI: 10.1038/nm.1962

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 9351462

Title: Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current.

PubMed ID: 9351462

DOI: 10.1161/01.res.81.5.870

PubMed ID: 9351446

Title: Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts.

PubMed ID: 9351446

DOI: 10.1161/01.res.81.5.719

PubMed ID: 10790218

Title: Analysis of the human KCNH2(HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion.

PubMed ID: 10790218

DOI: 10.1002/(sici)1098-1004(200005)15:5<483::aid-humu18>3.0.co;2-t

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: 9765245

Title: A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current.

PubMed ID: 9765245

DOI: 10.1074/jbc.273.42.27231

PubMed ID: 12063277

Title: Role of glycosylation in cell surface expression and stability of HERG potassium channels.

PubMed ID: 12063277

DOI: 10.1152/ajpheart.00008.2002

PubMed ID: 10837251

Title: Cyclic AMP regulates the HERG K(+) channel by dual pathways.

PubMed ID: 10837251

DOI: 10.1016/s0960-9822(00)00516-9

PubMed ID: 9230439

Title: A minK-HERG complex regulates the cardiac potassium current I(Kr).

PubMed ID: 9230439

DOI: 10.1038/40882

PubMed ID: 10219239

Title: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

PubMed ID: 10219239

DOI: 10.1016/s0092-8674(00)80728-x

PubMed ID: 16361248

Title: Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

PubMed ID: 16361248

DOI: 10.1074/jbc.m511765200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25281747

Title: RING finger protein RNF207, a novel regulator of cardiac excitation.

PubMed ID: 25281747

DOI: 10.1074/jbc.m114.592295

PubMed ID: 26363003

Title: Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips).

PubMed ID: 26363003

DOI: 10.1042/bj20141282

PubMed ID: 27916661

Title: Tetrameric assembly of K(+) channels requires ER-located chaperone proteins.

PubMed ID: 27916661

DOI: 10.1016/j.molcel.2016.10.027

PubMed ID: 9845367

Title: Crystal structure and functional analysis of the HERG potassium channel N-terminus: a eukaryotic PAS domain.

PubMed ID: 9845367

DOI: 10.1016/s0092-8674(00)81635-9

PubMed ID: 7889573

Title: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PubMed ID: 7889573

DOI: 10.1016/0092-8674(95)90358-5

PubMed ID: 8914737

Title: Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

PubMed ID: 8914737

DOI: 10.1002/(sici)1096-8628(19961002)65:1<27::aid-ajmg4>3.0.co;2-v

PubMed ID: 8635257

Title: Missense mutation in the pore region of HERG causes familial long QT syndrome.

PubMed ID: 8635257

DOI: 10.1161/01.cir.93.10.1791

PubMed ID: 8877771

Title: A mutation in HERG associated with notched T waves in long QT syndrome.

PubMed ID: 8877771

DOI: 10.1006/jmcc.1996.0151

PubMed ID: 9024139

Title: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PubMed ID: 9024139

DOI: 10.1161/01.cir.95.3.565

PubMed ID: 9693036

Title: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PubMed ID: 9693036

DOI: 10.1006/geno.1998.5361

PubMed ID: 9544837

Title: Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PubMed ID: 9544837

DOI: 10.1007/s004390050690

PubMed ID: 9452080

Title: Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PubMed ID: 9452080

DOI: 10.1002/humu.1380110159

PubMed ID: 10086971

Title: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

PubMed ID: 10086971

DOI: 10.1161/01.cir.99.11.1464

PubMed ID: 10220144

Title: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PubMed ID: 10220144

DOI: 10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v

PubMed ID: 10187793

Title: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

PubMed ID: 10187793

DOI: 10.1074/jbc.274.15.10113

PubMed ID: 10517660

Title: Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

PubMed ID: 10517660

DOI: 10.1111/j.1540-8167.1999.tb00304.x

PubMed ID: 10735633

Title: Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

PubMed ID: 10735633

DOI: 10.1034/j.1399-0004.2000.570206.x

PubMed ID: 10973849

Title: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PubMed ID: 10973849

DOI: 10.1161/01.cir.102.10.1178

PubMed ID: 10862094

Title: Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PubMed ID: 10862094

DOI: 10.1002/1098-1004(200006)15:6<580::aid-humu16>3.0.co;2-0

PubMed ID: 10753933

Title: The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

PubMed ID: 10753933

DOI: 10.1074/jbc.275.15.11241

PubMed ID: 11170080

Title: Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

PubMed ID: 11170080

DOI: 10.1002/1096-8628(20010201)98:4<348::aid-ajmg1109>3.0.co;2-a

PubMed ID: 12062363

Title: Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PubMed ID: 12062363

DOI: 10.1016/s0008-6363(02)00240-7

PubMed ID: 11997281

Title: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

PubMed ID: 11997281

DOI: 10.1161/01.cir.0000014448.19052.4c

PubMed ID: 12442276

Title: KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PubMed ID: 12442276

DOI: 10.1002/humu.9085

PubMed ID: 12354768

Title: A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

PubMed ID: 12354768

DOI: 10.1074/jbc.m206569200

PubMed ID: 12621127

Title: Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PubMed ID: 12621127

DOI: 10.1203/01.pdr.0000059750.17002.b6

PubMed ID: 14676148

Title: Sudden death associated with short-QT syndrome linked to mutations in HERG.

PubMed ID: 14676148

DOI: 10.1161/01.cir.0000109482.92774.3a

PubMed ID: 15051636

Title: Compound mutations: a common cause of severe long-QT syndrome.

PubMed ID: 15051636

DOI: 10.1161/01.cir.0000125524.34234.13

PubMed ID: 15840476

Title: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PubMed ID: 15840476

DOI: 10.1016/j.hrthm.2005.01.020

PubMed ID: 16414944

Title: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PubMed ID: 16414944

DOI: 10.1001/jama.294.23.2975

PubMed ID: 15828882

Title: Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PubMed ID: 15828882

DOI: 10.1046/j.1540-8167.2005.40621.x

PubMed ID: 16922724

Title: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PubMed ID: 16922724

DOI: 10.1111/j.1399-0004.2006.00671.x

PubMed ID: 19716085

Title: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PubMed ID: 19716085

DOI: 10.1016/j.hrthm.2009.05.021

PubMed ID: 22314138

Title: Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.

PubMed ID: 22314138

DOI: 10.1016/j.bbrc.2012.01.118

Sequence Information:

  • Length: 1159
  • Mass: 126655
  • Checksum: D03BD4F657641FBA
  • Sequence:
  • MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
    QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
    AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
    RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
    PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
    RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
    PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
    TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
    EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
    RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
    GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
    AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
    PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
    FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE 
    VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE 
    QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS 
    PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP 
    SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA 
    VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG 
    QLGALTSQPL HRHGSDPGS

Genular Protein ID: 177037351

Symbol: Q15BH2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16723117

Title: Template switching within exons 3 and 4 of KV11.1 (HERG) gives rise to a 5' truncated cDNA.

PubMed ID: 16723117

DOI: 10.1016/j.bbrc.2006.05.032

Sequence Information:

  • Length: 1159
  • Mass: 126601
  • Checksum: 0EEB67221C8799A2
  • Sequence:
  • MPVRRGHVAP QSTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
    QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
    AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
    RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
    PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
    RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
    PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
    TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
    EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
    RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
    GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
    AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
    PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
    FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE 
    VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDTDTE 
    QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS 
    PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP 
    SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA 
    VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG 
    QLGALTSQPL HRHGSDPGS

Genular Protein ID: 3962558469

Symbol: A0A090N7X5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 819
  • Mass: 90108
  • Checksum: 6C3F360C310C178A
  • Sequence:
  • MAAPAGKASR TGALRPRAQK GRVRRAVRIS SLVAQEVLSL GADVLPEYKL QAPRIHRWTI 
    LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD 
    IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL 
    IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD 
    SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF 
    SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY 
    FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT 
    THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG 
    DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG 
    FSRQRKRKLS FRRRTDKDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES 
    SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF 
    WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM 
    ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL 
    PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS

Genular Protein ID: 3688181182

Symbol: A0A090N7W1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 888
  • Mass: 97542
  • Checksum: 2C9582876D520E39
  • Sequence:
  • MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
    QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
    AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
    RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
    PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
    RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
    PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
    TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
    EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
    RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
    GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
    AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
    PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
    FISRGSIEIL RGDVVVAILG MGWGAGTGLE MPSAASRGAS LLNMQSLGLW TWDCLQGHWA 
    PLIHLNSGPP SGAMERSPTW GEAAELWGSH ILLPFRIRHK QTLFASLK

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.