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Aliases for KCNH2 Gene

Aliases for KCNH2 Gene

  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2 2 3
  • 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
  • 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 Channel, Voltage Gated Eag Related Subfamily H, Member 2) is a Protein Coding gene. Diseases associated with KCNH2 include familial long qt syndrome and long qt syndrome 2. Among its related pathways are Glucose / Energy Metabolism and Prostate Cancer. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNH2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH2 Gene

Genomics for KCNH2 Gene

Regulatory Elements for KCNH2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

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

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.
  • Glycosylation at Asn 598
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KCNH2 (Kv11.1)

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.

Gene Ontology (GO) - Molecular Function for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0005216 ion channel activity --
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 IMP 25281747
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:

Animal Model Products

CRISPR Products

miRNA for KCNH2 Gene

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 4
endoplasmic reticulum 2
extracellular 2
nucleus 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
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 Qiagen pathway for KCNH2 Gene
1 Cell Signaling Technology pathway for KCNH2 Gene
2 BioSystems pathways for KCNH2 Gene
1 PharmGKB pathway for KCNH2 Gene
1 KEGG pathway for KCNH2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006811 ion transport --
GO:0007268 synaptic transmission TAS --
GO:0023014 signal transduction by protein phosphorylation IEA --
genes like me logo Genes that share ontologies with KCNH2: view

Drugs & Compounds for KCNH2 Gene

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

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 0
Amiodarone Approved, Investigational Pharma Pore Blocker, blocker, Target, inhibitor 110
Cisapride Approved, Investigational, Withdrawn Pharma Partial agonist, Agonist, agonist, Target, inhibitor 5
Ibutilide Approved Pharma activator, Target, inhibitor 5

(28) 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)
Kaliotoxin
145199-73-1
L-364,373
103342-82-1
PD 118057
313674-97-4
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 (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



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

Protein tissue co-expression partners for KCNH2 Gene

Primer Products

In Situ Assay 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 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
chimpanzee
(Pan troglodytes)
Mammalia KCNH2 35
  • 99.42 (n)
  • 99.74 (a)
KCNH2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh2 35
  • 88.78 (n)
  • 95.94 (a)
cow
(Bos Taurus)
Mammalia 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
chicken
(Gallus gallus)
Aves LOC100858122 35
  • 78.37 (n)
  • 80.94 (a)
KCNH2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH2 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kcnh2a 35
  • 64.16 (n)
  • 66.12 (a)
CABZ01076216.1 36
  • 84 (a)
OneToMany
KCNH2 (2 of 5) 36
  • 55 (a)
OneToMany
KCNH2 (4 of 5) 36
  • 71 (a)
OneToMany
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, Pathogenic 150,974,896(+) CGCCG(C/G/T)CATCT missense, reference, upstream-variant-2KB
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

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

HapMap Linkage Disequilibrium report
KCNH2
Human Gene Mutation Database (HGMD)
KCNH2

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

Disorders for KCNH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
familial long qt syndrome
  • congenital long qt syndrome
long qt syndrome 2
  • long qt syndrome 2, acquired
short qt syndrome 1
  • short qt syndrome-1
long qt syndrome
  • lqt
short qt syndrome
  • sqts
- elite association
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: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.

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. [Short QT syndrome]. (PMID: 17497253) Wolpert C. … Borggrefe M. (Herz 2007) 23 25 26 67
  2. Comparison of HERG channel blocking effects of various beta-blockers-- implication for clinical strategy. (PMID: 16314852) Kawakami K. … Nakashima Y. (Br. J. Pharmacol. 2006) 23 25 26 67
  3. Discovery of a small molecule activator of the human ether-a-go-go-related gene (HERG) cardiac K+ channel. (PMID: 15548764) Kang J. … Rampe D. (Mol. Pharmacol. 2005) 23 25 26 67
  4. The influence of extracellular acidosis on the effect of IKr blockers. (PMID: 15821840) Lin C. … Somberg J. (J. Cardiovasc. Pharmacol. Ther. 2005) 23 25 26 67
  5. A mechanism for the potential proarrhythmic effect of acidosis, bradycardia, and hypokalemia on the blockade of human ether-a-go-go-related gene (HERG) channels. (PMID: 16041196) Lin C. … Somberg J. (Am J Ther 2005) 23 25 26 67

Products for KCNH2 Gene

  • Addgene plasmids for KCNH2

Sources for KCNH2 Gene

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