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Aliases for KCNH2 Gene

Aliases for KCNH2 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 2 2 3 5
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 2 2 3
  • Ether-A-Go-Go-Related Gene Potassium Channel 1 3 4
  • Voltage-Gated Potassium Channel Subunit Kv11.1 3 4
  • Ether-A-Go-Go-Related Protein 1 3 4
  • Eag-Related Protein 1 3 4
  • Eag Homolog 3 4
  • ERG-1 3 4
  • HERG1 3 4
  • H-ERG 3 4
  • ERG1 3 4
  • HERG 3 4
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2 3
  • Ether-A-Go-Go-Related Potassium Channel Protein 3
  • Kv11.1 3
  • HERG-1 4
  • SQT1 3
  • LQT2 3
  • ERG 4

External Ids for KCNH2 Gene

Previous HGNC Symbols for KCNH2 Gene

  • LQT2

Previous GeneCards Identifiers for KCNH2 Gene

  • GC07M148888
  • GC07M149956
  • GC07M150033
  • GC07M150079
  • GC07M150272
  • GC07M150642
  • GC07M144454

Summaries for KCNH2 Gene

Entrez Gene Summary for KCNH2 Gene

  • This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNH2 Gene

KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2) is a Protein Coding gene. Diseases associated with KCNH2 include Long Qt Syndrome 2 and Short Qt Syndrome 1. Among its related pathways are Potassium Channels and Cardiac conduction. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is KCNH7.

UniProtKB/Swiss-Prot for KCNH2 Gene

  • Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.

Tocris Summary for KCNH2 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNH2 Gene

PharmGKB "VIP" Summary for KCNH2 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for KCNH2 Gene

Genomics for KCNH2 Gene

Regulatory Elements for KCNH2 Gene

Enhancers for KCNH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNH2 on UCSC Golden Path with GeneCards custom track

Promoters for KCNH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for KCNH2 Gene

Chromosome:
7
Start:
150,944,956 bp from pter
End:
150,978,315 bp from pter
Size:
33,360 bases
Orientation:
Minus strand

Genomic View for KCNH2 Gene

Genes around KCNH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH2 Gene

Proteins for KCNH2 Gene

  • Protein details for KCNH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12809-KCNH2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 2
    Protein Accession:
    Q12809
    Secondary Accessions:
    • A5H1P7
    • C4PFH9
    • D3DX04
    • O75418
    • O75680
    • Q708S9
    • Q9BT72
    • Q9BUT7
    • Q9H3P0

    Protein attributes for KCNH2 Gene

    Size:
    1159 amino acids
    Molecular mass:
    126655 Da
    Quaternary structure:
    • The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH6/ERG2 and KCNH7/ERG3 (By similarity). Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2 (PubMed:9230439, PubMed:10219239). Interacts with CANX (PubMed:16361248). The core-glycosylated, but not the fully glycosylated form interacts with RNF207 (PubMed:25281747).
    SequenceCaution:
    • Sequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNH2 Gene

    Alternative splice isoforms for KCNH2 Gene

neXtProt entry for KCNH2 Gene

Post-translational modifications for KCNH2 Gene

  • Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction.
  • Glycosylation at Asn 598
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH2 Gene

No data available for DME Specific Peptides for KCNH2 Gene

Domains & Families for KCNH2 Gene

Gene Families for KCNH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q12809

UniProtKB/Swiss-Prot:

KCNH2_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Contains 1 cyclic nucleotide-binding domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily.
genes like me logo Genes that share domains with KCNH2: view

Function for KCNH2 Gene

Molecular function for KCNH2 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,with homology to cyclic nucleotide gated channel,similar to IKr,the cardiac rapid delayed rectified potassium channel
UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.
UniProtKB/Swiss-Prot Induction:
Up-regulated by RNF207 (at protein level).

Gene Ontology (GO) - Molecular Function for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0005242 inward rectifier potassium channel activity IDA 7604285
GO:0005249 voltage-gated potassium channel activity IDA 11953308
GO:0005251 delayed rectifier potassium channel activity IGI 25281747
GO:0005515 protein binding IPI 11953308
genes like me logo Genes that share ontologies with KCNH2: view
genes like me logo Genes that share phenotypes with KCNH2: view

Human Phenotype Ontology for KCNH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNH2 Gene

MGI Knock Outs for KCNH2:

Animal Model Products

CRISPR Products

miRNA for KCNH2 Gene

Clone Products

  • Addgene plasmids for KCNH2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNH2 Gene

Localization for KCNH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH2 Gene COMPARTMENTS Subcellular localization image for KCNH2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
endoplasmic reticulum 2
extracellular 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IMP 25281747
GO:0009986 cell surface IDA 21536673
GO:0048471 perinuclear region of cytoplasm IMP 25281747
genes like me logo Genes that share ontologies with KCNH2: view

Pathways & Interactions for KCNH2 Gene

genes like me logo Genes that share pathways with KCNH2: view

Pathways by source for KCNH2 Gene

1 Cell Signaling Technology pathway for KCNH2 Gene
1 BioSystems pathway for KCNH2 Gene
1 PharmGKB pathway for KCNH2 Gene
1 Qiagen pathway for KCNH2 Gene

SIGNOR curated interactions for KCNH2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
GO:0003064 regulation of heart rate by hormone TAS 11953308
GO:0023014 signal transduction by protein phosphorylation IEA --
GO:0035690 cellular response to drug IDA 7604285
GO:0042391 regulation of membrane potential IDA 8587608
genes like me logo Genes that share ontologies with KCNH2: view

Drugs & Compounds for KCNH2 Gene

(195) Drugs for KCNH2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dofetilide Approved Pharma Pore Blocker, blocker, Target, inhibitor 14
Astemizole Approved, Withdrawn Pharma Pore Blocker, antagonist, Target, inhibitor Orally active, potent H1 antagonist. Also KV11.1 (hERG) channel blocker. 0
amiodarone Approved, Investigational Pharma Pore Blocker, blocker, Target, inhibitor 118
Cisapride Approved, Investigational, Withdrawn Pharma Partial agonist, Agonist, agonist, Target, inhibitor 5
Ibutilide Approved Pharma activator, Target, inhibitor 5

(25) Additional Compounds for KCNH2 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Hydroxycarvedilol
O-Desmethylverapamil (D-702)
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNH2 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9

(78) ApexBio Compounds for KCNH2 Gene

Compound Action Cas Number
(-)-[3R,4S]-Chromanol 293B 163163-24-4
1-EBIO 10045-45-1
4-Aminopyridine potassium channel-blocking agent 504-24-5
Agitoxin 2 168147-41-9
AM 92016 hydrochloride Potassium channel blocker 133229-11-5
Amiodarone HCl Anti-arrhythmic drug 19774-82-4
Apamin 24345-16-2
Azimilide 149908-53-2
Azimilide Dihydrochloride 149888-94-8
BDS I
Charybdotoxin 95751-30-7
Chromanol 293B 163163-23-3
CP 339818 hydrochloride 478341-55-8
Cromakalim 94470-67-4
CyPPA 73029-73-9
DMP 543 160588-45-4
Dofetilide 115256-11-6
DPO-1 43077-30-1
Dronedarone 141626-36-0
Dronedarone HCl Antiarrhythmic drugs 141625-93-6
E-4031 dihydrochloride 113559-13-0
Gliclazide 21187-98-4
Glipizide 29094-61-9
Glyburide 10238-21-8
GW 542573X 660846-41-3
Hydralazine HCl 304-20-1
Iberiotoxin 129203-60-7
ICA 069673 582323-16-8
ICA 110381 325457-99-6
Indapamide 26807-65-8
Kaliotoxin 145199-73-1
L-364,373 103342-82-1
Levcromakalim 94535-50-9
Linopirdine dihydrochloride 113168-57-3
Margatoxin 145808-47-5
MaxiPost 187523-35-9
Minoxidil 38304-91-5
Mitiglinide Calcium 145525-41-3
ML 213 489402-47-3
ML 277 1401242-74-7
ML133 HCl Potassium channel inhibitor for Kir2.1 1222781-70-5
ML365 947914-18-3
Nateglinide Insulin secretagog agent 105816-04-4
Nicorandil Potassium channel activator 65141-46-0
Nonactin 6833-84-7
NS 11021 956014-19-0
NS 1619 153587-01-0
NS 1643 448895-37-2
NS 3623 343630-41-1
NS 5806 426834-69-7
NS309 18711-16-5
P1075 60559-98-0
PD 118057 313674-97-4
Penitrem A 12627-35-9
PNU 37883 hydrochloride 57568-80-6
Quinidine 56-54-2
Repaglinide Kir6 (KATP) channel blocker 135062-02-1
Retigabine Activator of voltage-gated potassium channel, an anticonvulsant agent 150812-12-7
RuBi-4AP 851956-02-0
ShK-Dap22 220384-25-8
SKA 31 40172-65-4
Tertiapin LQ
Tertiapin-Q 252198-49-5
Tetraethylammonium chloride K+ channel blocker 56-34-8
Tolbutamide CAMP inhibitor 64-77-7
Tolbutamide Sodium 473-41-6
TRAM-34 KCa3.1 blocker,potent and highly selective 289905-88-0
UCL 1684 199934-16-2
UCL 2077 918311-87-2
UK 78282 hydrochloride 136647-02-4
Valinomycin potassium-specific transporter 2001-95-8
VU 590 dihydrochloride 313505-85-0
VU 591 hydrochloride 1315380-70-1
XE 991 dihydrochloride 122955-13-9
Y-26763 127408-31-5
Y-27152 127408-30-4
YS-035 hydrochloride 89805-39-0
ZM 226600 147695-92-9
genes like me logo Genes that share compounds with KCNH2: view

Transcripts for KCNH2 Gene

Unigene Clusters for KCNH2 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 2:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for KCNH2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH2 Gene

No ASD Table

Relevant External Links for KCNH2 Gene

GeneLoc Exon Structure for
KCNH2
ECgene alternative splicing isoforms for
KCNH2

Expression for KCNH2 Gene

mRNA expression in normal human tissues for KCNH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH2 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8), Colon - Sigmoid (x4.5), Heart - Atrial Appendage (x4.5), and Pituitary (x4.3).

Protein differential expression in normal tissues from HIPED for KCNH2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH2 Gene



Protein tissue co-expression partners for KCNH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNH2 Gene:

KCNH2

SOURCE GeneReport for Unigene cluster for KCNH2 Gene:

Hs.647099

mRNA Expression by UniProt/SwissProt for KCNH2 Gene:

Q12809-KCNH2_HUMAN
Tissue specificity: Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells.
genes like me logo Genes that share expression patterns with KCNH2: view

Primer Products

Orthologs for KCNH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia KCNH2 34
  • 91.8 (n)
  • 96.8 (a)
KCNH2 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh2 34
  • 88.63 (n)
  • 96.37 (a)
Kcnh2 16
Kcnh2 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH2 34
  • 99.42 (n)
  • 99.74 (a)
KCNH2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh2 34
  • 88.78 (n)
  • 95.94 (a)
cow
(Bos Taurus)
Mammalia KCNH2 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH2 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858122 34
  • 78.37 (n)
  • 80.94 (a)
KCNH2 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH2 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kcnh2a 34
  • 64.16 (n)
  • 66.12 (a)
CABZ01076216.1 35
  • 84 (a)
OneToMany
KCNH2 (2 of 5) 35
  • 55 (a)
OneToMany
KCNH2 (4 of 5) 35
  • 71 (a)
OneToMany
kcnh2a 35
  • 57 (a)
OneToMany
kcnh6 35
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sei 36
  • 68 (a)
Species where no ortholog for KCNH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNH2 Gene

ENSEMBL:
Gene Tree for KCNH2 (if available)
TreeFam:
Gene Tree for KCNH2 (if available)

Paralogs for KCNH2 Gene

genes like me logo Genes that share paralogs with KCNH2: view

Variants for KCNH2 Gene

Sequence variations from dbSNP and Humsavar for KCNH2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_008578 Long QT syndrome 2 (LQT2)
VAR_008579 Long QT syndrome 2 (LQT2)
VAR_008580 Long QT syndrome 2 (LQT2)
VAR_008581 Long QT syndrome 2 (LQT2)
rs28928904 Long QT syndrome 2 (LQT2) 150,951,615(-) CCAGA(A/C/G/T)AGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNH2 Gene

Variant ID Type Subtype PubMed ID
dgv11721n54 CNV loss 21841781
dgv3695n106 OTHER inversion 24896259
esv2759574 CNV loss 17122850
nsv1030109 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1076015 CNV deletion 25765185
nsv1119149 CNV deletion 24896259
nsv1137595 CNV deletion 24896259
nsv1151906 OTHER inversion 26484159
nsv465213 CNV loss 19166990
nsv608990 CNV gain 21841781
nsv609002 CNV loss 21841781
nsv8231 CNV gain 18304495
nsv951648 CNV deletion 24416366

Variation tolerance for KCNH2 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.47; 77.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH2 Gene

Human Gene Mutation Database (HGMD)
KCNH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH2 Gene

Disorders for KCNH2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for KCNH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 2
  • long qt syndrome 2, acquired
short qt syndrome 1
  • sqt1
short qt syndrome
  • sqts
familial long qt syndrome
  • congenital long qt syndrome
retinal cone dystrophy 3b
  • rcd3b
- elite association - COSMIC cancer census association via MalaCards
Search KCNH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNH2_HUMAN
  • Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. {ECO:0000269 PubMed:10086971, ECO:0000269 PubMed:10187793, ECO:0000269 PubMed:10220144, ECO:0000269 PubMed:10517660, ECO:0000269 PubMed:10735633, ECO:0000269 PubMed:10862094, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:11170080, ECO:0000269 PubMed:12062363, ECO:0000269 PubMed:12354768, ECO:0000269 PubMed:12442276, ECO:0000269 PubMed:12621127, ECO:0000269 PubMed:15051636, ECO:0000269 PubMed:15840476, ECO:0000269 PubMed:16414944, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:22314138, ECO:0000269 PubMed:7889573, ECO:0000269 PubMed:8635257, ECO:0000269 PubMed:8877771, ECO:0000269 PubMed:8914737, ECO:0000269 PubMed:9024139, ECO:0000269 PubMed:9452080, ECO:0000269 PubMed:9544837, ECO:0000269 PubMed:9600240, ECO:0000269 PubMed:9693036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short QT syndrome 1 (SQT1) [MIM:609620]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269 PubMed:14676148, ECO:0000269 PubMed:15828882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNH2

Genetic Association Database (GAD)
KCNH2
Human Genome Epidemiology (HuGE) Navigator
KCNH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH2
genes like me logo Genes that share disorders with KCNH2: view

No data available for Genatlas for KCNH2 Gene

Publications for KCNH2 Gene

  1. A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia. (PMID: 19412172) Huffaker S.J. … Weinberger D.R. (Nat. Medicines 2009) 3 4 46 65
  2. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. (PMID: 19716085) Kapplinger J.D. … Ackerman M.J. (Heart Rhythm 2009) 3 4 46 65
  3. Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. (PMID: 18808722) Zhang X. … Wang Q.K. (BMC Med. Genet. 2008) 3 22 46 65
  4. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). (PMID: 18222980) Sinner M.F. … KAoAob S. (Eur. Heart J. 2008) 3 22 46 65
  5. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PMID: 15840476) Tester D.J. … Ackerman M.J. (Heart Rhythm 2005) 3 4 46 65

Products for KCNH2 Gene

Sources for KCNH2 Gene

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