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Aliases for KCNH2 Gene

Aliases for KCNH2 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 2 2 3 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
  • HERG1 3 4
  • ERG-1 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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and obsolete 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) (PubMed:18559421, PubMed:26363003, PubMed:27916661).

  • Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.

  • Isoform B-USO: Has no channel activity by itself, 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

Additional gene information for KCNH2 Gene

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

Genomics for KCNH2 Gene

GeneHancer (GH) Regulatory Elements for KCNH2 Gene

Promoters and enhancers for KCNH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J150978 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.6 -1.0 -1046 3.1 ATF1 ARNT ARID4B SIN3A GLI4 GLIS2 KLF7 ATF7 MCM3 SP3 KCNH2 NUB1 ENSG00000244151 SLC4A2 NOS3
GH07J150953 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 673.5 +22.7 22706 4.1 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 CBX5 E2F8 KCNH2 NOS3 ATG9B ENSG00000243433 ABCB8 AOC1 LOC105375567
GH07J150977 Enhancer 0.9 ENCODE dbSUPER 650.7 +0.8 779 0.2 SMARCE1 MXI1 NRF1 CDC5L ZBTB40 ZFP69B NFIC POLR2A ZNF692 ZBTB48 KCNH2 LOC105375567
GH07J150976 Enhancer 0.9 ENCODE dbSUPER 650.7 +1.5 1537 0.3 MXI1 KLF1 PKNOX1 USF1 KLF17 ZFHX2 GLIS2 POLR2A EGR1 VEZF1 KCNH2 LOC105375567
GH07J151007 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.7 -32.8 -32811 7.7 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 POLR2B ENSG00000244151 NOS3 NUB1 KCNH2 ASIC3 SLC4A2 CDK5 FASTK TMUB1 AGAP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNH2 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • AP-1
  • PPAR-gamma2
  • PPAR-gamma1
  • c-Jun

Genomic Locations for KCNH2 Gene

Genomic Locations for KCNH2 Gene
chr7:150,944,956-150,978,315
(GRCh38/hg38)
Size:
33,360 bases
Orientation:
Minus strand
chr7:150,642,044-150,675,403
(GRCh37/hg19)
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 (PubMed:27916661). Interacts with DNAJB12 and DNAJB14; chaperones DNAJB12 and DNAJB14 promote tetramerization (PubMed:27916661). 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). Interacts with NDFIP1 and NDFIP2 (PubMed:26363003).
    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 Asn598
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNH2 Gene

Domains & Families for KCNH2 Gene

Gene Families for KCNH2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

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.
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

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) (PubMed:18559421, PubMed:26363003, PubMed:27916661).
UniProtKB/Swiss-Prot Function:
Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.
UniProtKB/Swiss-Prot Function:
Isoform B-USO: Has no channel activity by itself, 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).
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

Phenotypes From GWAS Catalog for KCNH2 Gene

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 IEA --
GO:0005242 inward rectifier potassium channel activity IMP,IDA 14525949
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA,IDA 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH2

Clone Products

  • Addgene plasmids for KCNH2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNH2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS,IMP --
GO:0005887 integral component of plasma membrane IBA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNH2 Gene

Pathways & Interactions for KCNH2 Gene

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

Pathways by source 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:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0023014 signal transduction by protein phosphorylation IEA --
genes like me logo Genes that share ontologies with KCNH2: view

Drugs & Compounds for KCNH2 Gene

(214) 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, Investigational Pharma Pore Blocker, blocker, Target, inhibitor 16
Astemizole Approved, Withdrawn Pharma Pore Blocker, Inhibitor, antagonist, Target, inhibitor 0
Terfenadine Approved, Withdrawn Pharma Pore Blocker, Inhibitor, antagonist, Target, inhibitor Histamine H1-receptor antagonist 54
Amiodarone Approved, Investigational Pharma Pore Blocker, blocker, Target, inhibitor 128
Cisapride Approved, Investigational, Withdrawn Pharma Partial agonist, Agonist, agonist, Target, inhibitor 5-HT4 agonist; stimulates intestinal ACh release 5

(23) Additional Compounds for KCNH2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Hydroxycarvedilol
O-Desmethylverapamil (D-702)

(4) Tocris Compounds for KCNH2 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9

(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

Drug Products

Transcripts for KCNH2 Gene

Unigene Clusters for KCNH2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH2

Clone Products

  • Addgene plasmids for KCNH2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for KCNH2 Gene

  • Nervous system(4.8)
  • Heart(4.7)
  • Muscle(3.2)
  • Blood(2.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns 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 34 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH2 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH2 34 33
  • 91.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH2 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh2 33
  • 88.78 (n)
mouse
(Mus musculus)
Mammalia Kcnh2 16 34 33
  • 88.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858122 33
  • 78.37 (n)
KCNH2 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH2 34
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01076216.1 34
  • 84 (a)
OneToMany
KCNH2 (4 of 5) 34
  • 71 (a)
OneToMany
kcnh2a 34 33
  • 64.16 (n)
OneToMany
kcnh6 34
  • 57 (a)
OneToMany
KCNH2 (2 of 5) 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sei 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNH2: view image

Paralogs for KCNH2 Gene

(7) SIMAP similar genes for KCNH2 Gene using alignment to 11 proteins:

  • KCNH2_HUMAN
  • A0PJW5_HUMAN
  • A8WBZ2_HUMAN
  • C7DYB4_HUMAN
  • J9SM79_HUMAN
  • Q45QN5_HUMAN
  • Q6U279_HUMAN
  • Q6U283_HUMAN
  • Q6U287_HUMAN
  • Q75MK8_HUMAN
  • Q75MK9_HUMAN
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 Variation AA Info Type
rs1031478932 likely-benign, Long QT syndrome 150,955,403(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs104894021 pathogenic, not-provided, Short QT syndrome 1, short QT syndrome, Short QT syndrome 1 (SQT1) [MIM:609620] 150,951,629(-) G/C/T coding_sequence_variant, missense_variant
rs1057517742 uncertain-significance, pathogenic, Long QT syndrome, not provided 150,958,430(-) G/C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs1057518876 uncertain-significance, Arrhythmia, Hypertrophic cardiomyopathy 150,952,588(-) A/G coding_sequence_variant, missense_variant
rs1057520598 likely-pathogenic, not provided, Long QT syndrome 150,959,738(-) T/C genic_upstream_transcript_variant, splice_acceptor_variant

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

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

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)

Additional Variant Information for KCNH2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCNH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
long qt syndrome 2
  • long qt syndrome 9
short qt syndrome 1
  • sqt1
familial short qt syndrome
  • sqts
long qt syndrome 1
  • lqt1
long qt syndrome
  • romano-ward syndrome
- 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:10753933, 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:16361248, ECO:0000269 PubMed:16414944, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:22314138, ECO:0000269 PubMed:27916661, 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.

Additional Disease Information for KCNH2

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

No data available for Genatlas for KCNH2 Gene

Publications for KCNH2 Gene

  1. 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 JD … Ackerman MJ (Heart rhythm 2009) 3 4 44 58
  2. A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia. (PMID: 19412172) Huffaker SJ … Weinberger DR (Nature medicine 2009) 3 4 44 58
  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 QK (BMC medical genetics 2008) 3 22 44 58
  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 MF … Kääb S (European heart journal 2008) 3 22 44 58
  5. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PMID: 15840476) Tester DJ … Ackerman MJ (Heart rhythm 2005) 3 4 44 58

Products for KCNH2 Gene

  • Addgene plasmids for KCNH2

Sources for KCNH2 Gene

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