Property Summary

NCBI Gene PubMed Count 515
PubMed Score 1625.17
PubTator Score 1373.24

Knowledge Summary

Patent (63,697)

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
psoriasis 6685 1.15029036774947E-49
lung carcinoma 2844 3.70902523157244E-26
ependymoma 2514 3.83479684316193E-7
atypical teratoid/rhabdoid tumor 1095 4.73943445448333E-7
malignant mesothelioma 3163 5.69124785665799E-6
ovarian cancer 8492 7.60718997871672E-5
group 3 medulloblastoma 2254 2.2025314813077E-4
osteosarcoma 7933 3.74240099784244E-4
subependymal giant cell astrocytoma 2287 0.0101886221038324
adrenocortical carcinoma 1427 0.0173351393371913
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Heart conduction disease 65 0.0 2.0
Disease Target Count Z-score Confidence
Short QT syndrome 12 6.441 3.2
Disease Target Count Z-score Confidence
Heart disease 279 5.196 2.6
Hypokalemia 40 3.651 1.8
Timothy syndrome 12 3.524 1.8

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.800 0.000
osteosarcoma -2.961 0.000
ependymoma -1.200 0.000
atypical teratoid/rhabdoid tumor -1.400 0.000
adrenocortical carcinoma 1.708 0.017
group 3 medulloblastoma 1.300 0.000
subependymal giant cell astrocytoma -1.485 0.010
lung carcinoma 2.000 0.000
ovarian cancer 1.100 0.000
psoriasis -1.800 0.000

Synonym

Accession Q12809 A5H1P7 C4PFH9 D3DX04 O75418 O75680 Q708S9 Q9BT72 Q9BUT7 Q9H3P0
Symbols ERG1
HERG
LQT2
SQT1
ERG-1
H-ERG
HERG1
Kv11.1

Gene

PDB

1BYW   1UJL   2L0W   2L1M   2L4R   2LE7   2N7G   4HP9   4HQA  

  Ortholog (6)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Opossum OMA Inparanoid

MLP Assay (8)

AID Type Active / Inconclusive / Inactive Description
1788 other 0 / 0 / 0 Discovery of novel allosteric modulators of the M1 muscarinic receptor: Agonist Ancillary Activity
1921 other 2 / 0 / 0 Discovery of a Highly Selective in vitro and in vivo M4 Positive Allosteric Modulator: Ancillary Activity
504920 confirmatory 0 / 0 / 5 SAR Analysis for the identification of selective inhibitors of the two-pore domain potassium channel KCNK9 in hERG expressing cells: FluxOR Assay CRC for hERG Specificity
540323 confirmatory 5 / 0 / 102 SAR Analysis for the identification of selective inhibitors of the two-pore domain potassium channel KCNK9 in hERG expressing cells: FluxOR Assay CRC 2
588741 confirmatory 7 / 0 / 38 SAR Analysis for the identification of selective inhibitors of the two-pore domain potassium channel KCNK9 in hERG expressing cells: FluxOR Assay CRC 3
623883 confirmatory 10 / 0 / 18 SAR Analysis for the identification of inhibitors of the two-pore domain potassium channel KCNK9 - Selectivity assay against hERG: FluxOR Assay CRC 4
623988 confirmatory 1 / 0 / 0 Activators of the GIRK family of Potassium Channels (hERG_ThalliumFlux_CRC)
652194 confirmatory 6 / 0 / 98 SAR Analysis for the identification of selective inhibitors of the two-pore domain potassium channel TASK1 in hERG expressing cells: FluxOR Assay CRC

Gene RIF (481)

PMID Text
26859003 we carried out an in silico screen for the naturally occurring hERG mutation, the M54T MiRP1 mutation, which has been implicated in drug-induced LQTS and arrhythmia.
26829745 HERG mutations resulted in HERG protein trafficking defect are associated with long QT syndrome. [review]
26746457 Among laboratories there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype.
26659724 that activation of calpains by reactive oxygen species-dependent elevation of [Ca(2+)]i mediates Human ether-a-go-go-related gene protein degradation by IH
26543354 Propose that berberine reduces hERG membrane stability with multiple mechanisms.
26519040 The human ether-a-go-go-related gene (hERG) encodes the pore-forming subunit of a delayed rectifier voltage gated K+ channel.
26496715 Mutational screening identified 104 mutations (44% novel), i.e. 46 KCNQ1, 54 KCNH2 and 4 SCN5A mutations for long QT syndrome in China.
26481172 Risk alleles in intron 2 of KCNH2 in patients who are slow drug metabolizers will respond better to treatment with risperidone compared with other antipsychotic drugs.
26403377 The altered channel gating kinetics in combination with defective trafficking of mutated Kv11.1 channels is expected to result in reduced repolarizing current density and, thus, a long QT syndrome phenotype.
26363003 Data show that membrane protein Ndfip1 recruits E3 ubiquitin (Ub) ligase Nedd4-2 to the Golgi to target ether-a-go-go-related gene (hERG) channel for degradation while membrane protein Ndfip2 also mediates Nedd4-2 interaction with hERG in the Golgi.
More...

AA Sequence

MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLH      1 - 70
GPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGS     71 - 140
PAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESL    141 - 210
ALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVR    211 - 280
RASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLA    281 - 350
SPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIY    351 - 420
TAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIA    421 - 490
VHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALI    491 - 560
AHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNV    561 - 630
SPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEY    631 - 700
FQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLV    701 - 770
HAGDLLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLE    771 - 840
VLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGP    841 - 910
GRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKS    911 - 980
SDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQLN    981 - 1050
RLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEEL   1051 - 1120
PPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS                                  1121 - 1159
//

Text Mined References (520)

PMID Year Title
26859003 2015 In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.
26829745 2016 [Progress in research on defective protein trafficking and functional restoration in HERG-associated long QT syndrome].
26746457 2016 Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
26659724 2016 Calpain activation by ROS mediates human ether-a-go-go-related gene protein degradation by intermittent hypoxia.
26543354 2015 Mechanism and pharmacological rescue of berberine-induced hERG channel deficiency.
26519040 2016 Reduced expression of voltage-gated Kv11.1 (hERG) K(+) channels in aganglionic colon in Hirschsprung's disease.
26503718 2015 Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate.
26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.
26481172 2016 Differential Response to Risperidone in Schizophrenia Patients by KCNH2 Genotype and Drug Metabolizer Status.
26403377 2015 Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.
More...