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Aliases for KCNH2 Gene

Aliases for KCNH2 Gene

  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2 2 3
  • HERG 3 4 6
  • 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
  • SQT1 3 6
  • LQT2 3 6
  • Potassium Voltage-Gated Channel Subfamily H Member 2 3
  • Ether-A-Go-Go-Related Potassium Channel Protein 3
  • KV11.1 3
  • HERG-1 4
  • ERG 4

External Ids for KCNH2 Gene

Previous Symbols for KCNH2 Gene

  • LQT2

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 Channel, Voltage Gated Eag Related 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 Prostate Cancer and Transcriptional misregulation in cancer. GO annotations related to this gene include protein homodimerization activity and ubiquitin protein ligase binding. An important paralog of this gene is KCNH1.

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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

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

Genomic Location for KCNH2 Gene

Start:
150,944,956 bp from pter
End:
150,978,329 bp from pter
Size:
33,374 bases
Orientation:
Minus strand

Genomic View for KCNH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH2 Gene

Regulatory Elements 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. Interacts with ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2. Interacts with CANX.
    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

Proteomics data for KCNH2 Gene at MOPED

Post-translational modifications for KCNH2 Gene

  • Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys389
  • Glycosylation at Asn598

Other Protein References for KCNH2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH2 Gene

Domains for KCNH2 Gene

Gene Families for KCNH2 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q12809

UniProtKB/Swiss-Prot:

KCNH2_HUMAN
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position:
    • Q12809
  • Contains 1 cyclic nucleotide-binding domain.:
    • Q12809
  • Contains 1 PAC (PAS-associated C-terminal) domain.:
    • Q12809
  • Contains 1 PAS (PER-ARNT-SIM) domain.:
    • Q12809
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily.:
    • Q12809
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.

Gene Ontology (GO) - Molecular Function for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0004871 signal transducer activity --
GO:0005216 ion channel activity --
GO:0005242 inward rectifier potassium channel activity IDA 7604285
GO:0005249 voltage-gated potassium channel activity IDA 11953308
genes like me logo Genes that share ontologies with KCNH2: view
genes like me logo Genes that share phenotypes with KCNH2: view

Animal Models for KCNH2 Gene

MGI Knock Outs for KCNH2:

miRNA for KCNH2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
nucleus 3
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:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IMP 25281747
GO:0009986 cell surface IDA 21536673
genes like me logo Genes that share ontologies with KCNH2: view

Pathways for KCNH2 Gene

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

Pathways by source for KCNH2 Gene

1 Qiagen pathway for KCNH2 Gene
2 BioSystems pathways for KCNH2 Gene
1 PharmGKB pathway for KCNH2 Gene
1 KEGG pathway for KCNH2 Gene

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:0006355 regulation of transcription, DNA-templated --
GO:0006811 ion transport --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with KCNH2: view

Compounds for KCNH2 Gene

(5) Tocris Compounds for KCNH2 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(3) HMDB Compounds for KCNH2 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
Potassium
  • K+
7440-09-7
Verapamil
  • Akilen
52-53-9

(21) Drugbank Compounds for KCNH2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amiodarone
  • Amiodarona [INN-Spanish]
1951-25-3 target inhibitor
Amsacrine
  • Acridinyl Anisidide
51264-14-3 target inhibitor
Astemizole
68844-77-9 target inhibitor
Carvedilol
72956-09-3 target inhibitor
Cisapride
81098-60-4 target inhibitor

(7) IUPHAR Ligand for KCNH2 Gene

Ligand Type Action Affinity Pubmed IDs
BeKm-1 Gating inhibitor None 9
terfenadine Pore Blocker None 7.8
APETx-1 Gating inhibitor None 7.4
astemizole Pore Blocker None 6.7
mallotoxin Activator None 6.5
E4031 Pore Blocker None 6.4
NS1643 Activator None 4.9

(108) Novoseek inferred chemical compound relationships for KCNH2 Gene

Compound -log(P) Hits PubMed IDs
dofetilide 88.8 30
potassium 88.7 195
methanesulfonanilide 86.8 3
ly97241 79.2 4
cisapride 77.7 31

(3) PharmGKB related drug/compound annotations for KCNH2 Gene

Drug/compound Annotation
amiodarone CA
calcium channel blockers CA
nitrendipine CA
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:

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 (4.8), Colon - Sigmoid (4.5), Heart - Atrial Appendage (4.5), and Pituitary (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNH2 Gene

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 expressions with KCNH2: view

Orthologs for KCNH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNH2 35
  • 99.42 (n)
  • 99.74 (a)
KCNH2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH2 35
  • 91.8 (n)
  • 96.8 (a)
KCNH2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh2 35
  • 88.63 (n)
  • 96.37 (a)
Kcnh2 16
Kcnh2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kcnh2 35
  • 88.78 (n)
  • 95.94 (a)
chicken
(Gallus gallus)
Aves KCNH2 36
  • 74 (a)
OneToOne
LOC100858122 35
  • 78.37 (n)
  • 80.94 (a)
lizard
(Anolis carolinensis)
Reptilia KCNH2 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01076216.1 36
  • 84 (a)
OneToMany
KCNH2 (2 of 5) 36
  • 55 (a)
OneToMany
KCNH2 (4 of 5) 36
  • 71 (a)
OneToMany
kcnh2a 35
  • 64.16 (n)
  • 66.12 (a)
kcnh2a 36
  • 57 (a)
OneToMany
kcnh6 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sei 37
  • 68 (a)
Species with no ortholog for KCNH2:
  • 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 MAF
rs731506 Pathogenic 150,974,896(-) CGCCG(C/G/T)CATCT missense, reference
rs740952 -- 150,952,515(+) ACGGC(A/G/T)ATGCG synonymous-codon, reference
rs748693 -- 150,974,349(+) CCTTT(A/G)ACCTC intron-variant
rs758890 -- 150,958,555(-) TTGCC(C/T)GCTCC intron-variant
rs758891 -- 150,958,536(-) TCGCG(A/G)TCCCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2156e1 CNV Complex 17122850
nsv465213 CNV Loss 19166990
dgv7543n71 CNV Loss 21882294
dgv7544n71 CNV Loss 21882294
nsv889465 CNV Loss 21882294
nsv889469 CNV Gain 21882294
nsv889470 CNV Loss 21882294
nsv8231 CNV Gain 18304495

Relevant External Links for KCNH2 Gene

HapMap Linkage Disequilibrium report
KCNH2
Human Gene Mutation Database (HGMD)
KCNH2
Locus Specific Mutation Databases (LSDB)
KCNH2

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

Disorders for KCNH2 Gene

(2) OMIM Diseases for KCNH2 Gene (152427)

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:12062363, ECO:0000269 PubMed:12354768, ECO:0000269 PubMed:12621127, ECO:0000269 PubMed:15051636, ECO:0000269 PubMed:15840476, ECO:0000269 PubMed:16922724, 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.

(40) Novoseek inferred disease relationships for KCNH2 Gene

Disease -log(P) Hits PubMed IDs
long qt syndrome 97 117
torsades de pointes 92.6 32
romano-ward syndrome 85.2 2
arrhythmia 85.2 84
death sudden 81.6 21

Relevant External Links for KCNH2

GeneTests
KCNH2
GeneReviews
KCNH2
Genetic Association Database (GAD)
KCNH2
Human Genome Epidemiology (HuGE) Navigator
KCNH2
genes like me logo Genes that share disorders with KCNH2: view

Publications for KCNH2 Gene

  1. Missense mutation in the pore region of HERG causes familial long QT syndrome. (PMID: 8635257) Benson D.W. … Satler C.A. (Circulation 1996) 3 4 23
  2. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. (PMID: 7889573) Curran M.E. … Keating M.T. (Cell 1995) 3 4 23
  3. A mutation in HERG associated with notched T waves in long QT syndrome. (PMID: 8877771) Dausse E. … Guicheney P. (J. Mol. Cell. Cardiol. 1996) 3 4 23
  4. Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. (PMID: 8914737) Satler C.A. … Jacob H.J. (Am. J. Med. Genet. 1996) 3 4 23
  5. 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. (PMID: 9351462) London B. … Robertson G.A. (Circ. Res. 1997) 3 4 23

Products for KCNH2 Gene

  • Addgene plasmids for KCNH2

Sources for KCNH2 Gene

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