KCNH2 Gene
protein-coding GIFtS: 68
GCID: GC07M150642
|
|
potassium voltage-gated channel, subfamily H (eag-related),...
(Previous symbol: LQT2)
| |
Aliases
for KCNH2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 21 2 | | ERG12 3 | | HERG1 2 3 5 | | H-ERG2 3 | | LQT21 2 5 | | HERG-11 | | Kv11.11 2 | | SQT12 5 | | Eag Homolog2 3 | | Erg11 | | Eag-Related Protein 12 3 | | HERG12 | | Ether-A-Go-Go-Related Gene Potassium Channel 12 3 | | Ether-A-Go-Go-Related Potassium Channel Protein2 | | Ether-A-Go-Go-Related Protein 12 3 | | Potassium Voltage-Gated Channel Subfamily H Member 22 | | Voltage-Gated Potassium Channel Subunit Kv11.12 3 | | ERG3 | | ERG-12 3 | | HERG12 |
Export aliases for KCNH2 gene to outside databasesPrevious GC identifers: GC07M148888 GC07M149956 GC07M150033 GC07M150079 GC07M150272 GC07M144454 |
Summaries
for KCNH2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KCNH2:
This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity withthe Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcriptvariants encoding distinct isoforms have been identified. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809Function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties aremodulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassiumcurrent in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics whenassociated with isoform 1
 summary
for KCNH2: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 (HERG)
PharmGKB "VIP" summary for
KCNH2
|
Genomic Views
for KCNH2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNH2 gene promoter:
PPAR-gamma1 AP-1 NRSF form 1 c-Jun PPAR-gamma2 NRSF form 2
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNH2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNH2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q36.1 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36.1KCNH2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M150642: view genomic region
(about GC identifiers)
Start:
|
150,642,049 bp from pter |
End:
|
150,675,403 bp from pter |
Size:
|
33,355 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 149,971,338-150,004,310 |
|
Proteins
for KCNH2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809 (See
protein sequence)Recommended Name: Potassium voltage-gated channel subfamily H member 2 Size: 1159 amino acids; 126655 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alphasubunits that can associate with modulating beta subunits. Heteromultimer with KCNH6/ERG2 and KCNH7/ERG3. Interactswith ALG10B (By similarity). Heteromultimer with KCNE1 and KCNE2. Interacts with CANX
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC69709.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=AAH01914.2;Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAB19682.1; Type=Miscellaneous discrepancy;Note=Cloning artifact; Sequence=CAA09232.1; Type=Erroneous gene model prediction;
6 PDB 3D structures from  and Proteopedia  for KCNH2:1BYW (3D)
1UJL (3D)
2L0W (3D)
2L1M (3D)
2L4R (3D)
2LE7 (3D)
Secondary accessions: A5H1P7 D3DX04 O75418 O75680 Q9BT72 Q9BUT7 Q9H3P0Alternative splicing: 3 isoforms: Q12809-1 Q12809-2 Q12809-4 Explore the universe of human proteins at neXtProt for KCNH2: NX_Q12809
Post-translational modifications:
Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q12809
KCNH2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_000229.1 NP_001191727.1 NP_742053.1 NP_742054.1
ENSEMBL proteins: ENSP00000328531 ENSP00000262186 ENSP00000376695 ENSP00000387657 Reactome Protein details: Q12809
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
KCNH2 for ontologies About GeneDecksing
KCNH2 Antibody Products:
Assay Products for KCNH2: |
Protein
Domains /
Families
for KCNH2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KCNH2 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q12809ProtoNet protein and cluster: Q12809 5/6 Blocks protein families (see all 6): IPB000014 PAS domain IPB000595 Cyclic nucleotide-binding domain IPB001610 PAC motif IPB003938 EAG/ELK/ERG potassium channel family signature IPB003967 ERG potassium channel family signature
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged aminoacids at every third positionSimilarity: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamilySimilarity: Contains 1 cyclic nucleotide-binding domainSimilarity: Contains 1 PAC (PAS-associated C-terminal) domainSimilarity: Contains 1 PAS (PER-ARNT-SIM) domain |
Function
for KCNH2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809Function: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties aremodulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassiumcurrent in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics whenassociated with isoform 1 Genatlas biochemistry entry for KCNH2:potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,with homology to cyclic nucleotidegated channel,similar to IKr,the cardiac rapid delayed rectified potassium channel
Clone
Products: |  | EMD Millipore Clones for the Expression of KCNH2 | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH2 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table | 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 |
IEA | -- | | GO:0005249 | voltage-gated potassium channel activity |
IDA | -- | | GO:0005251 | delayed rectifier potassium channel activity |
TAS | 7736582 |
KCNH2 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Kcnh2tm1Hjd for KCNH2
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Kcnh2):
KCNH2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for KCNH2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Potassium Channels | | | 2 | Antiarrhythmic Pathway, Pharmacodynamics | | | 3 | Potassium transporters: inward current | | | 4 | Dopamine-DARPP32 Feedback onto cAMP Pathway | | | 5 | SIDS Susceptibility Pathways | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for KCNH2
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNH2
1  BioSystems Pathway for KCNH2
3 
Reactome Pathways for KCNH2
1  PharmGKB Pathway for KCNH2
KCNH2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNH2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/67 Interacting proteins for KCNH2 (Q128092, 3 ENSP000002621864) via UniProtKB, MINT, STRING, and/or I2D (see all 67)About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
KCNH2 for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNH2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
KCNH2 for compounds About GeneDecksing
Compounds for KCNH2 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| NS 1643 | hERG channel activator. Antiarrhythmic | [448895-37-2] | | Aniracetam | Desensitization inhibitor (AMPA > kainate) | [72432-10-1] | | Dofetilide | hERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr) | [115256-11-6] | | E-4031 dihydrochloride | hERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr) | [113559-13-0] | | 4-Aminopyridine | Non-selective KV channel blocker | [504-24-5] |
3 HMDB Compounds for KCNH2 About this table
10/20 DrugBank Compounds for KCNH2 (see all 20) About this table
10/108 Novoseek chemical compound relationships for KCNH2 gene (see all 108) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dofetilide |
88.8 |
34 |
9486667 (3), 20172036 (3), 15821840 (2), 15522280 (2) (see all 21) |
| potassium |
88.7 |
475 |
10028924 (5), 16495758 (4), 14517175 (4), 12208779 (4) (see all 99) |
| methanesulfonanilide |
86.8 |
4 |
15519905 (1), 8649354 (1), 11090546 (1) |
| ly97241 |
79.2 |
5 |
9315735 (3), 12522086 (1) |
| cisapride |
77.7 |
36 |
9395068 (5), 9374794 (5), 12209010 (4), 20172036 (2) (see all 17) |
| terfenadine |
77.2 |
22 |
8772706 (5), 20071423 (3), 9694927 (3), 10604956 (2) (see all 11) |
| astemizole |
74.4 |
7 |
10422790 (2), 18701618 (1), 12775586 (1), 9658196 (1) (see all 5) |
| ibutilide |
74.4 |
20 |
19204737 (5), 18057887 (3), 16076272 (1), 17497253 (1) (see all 6) |
| merg |
74.1 |
2 |
10191308 (1), 15176421 (1) |
| quinidine |
69.7 |
30 |
12695533 (3), 16041196 (3), 15821840 (2), 16960444 (2) (see all 14) |
1 PharmGKB related drug/compound annotation for KCNH2 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about KCNH2
|
Transcripts
for KCNH2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KCNH2 gene (4 alternative transcripts): NM_000238.3 NM_001204798.1 NM_172056.2 NM_172057.2 Unigene Cluster for KCNH2: Potassium voltage-gated channel, subfamily H (eag-related), member 2 Hs.647099 [show with all ESTs]Unigene Representative Sequence: DQ5259137 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000330883(uc003wib.3) ENST00000262186(uc003wic.3) ENST00000532957(uc003wie.3)
ENST00000473610(uc003wid.3) ENST00000461280 ENST00000392968(uc011kux.2)
ENST00000430723
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH2 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): KCNH2 (NM_000238) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KCNH2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNH2 |
Additional cDNA sequence: AF052728.1 AF363636.1 AJ512214.1 AJ609614.1 AY927502.1 AY927580.1 BC001914.1 BC004311.2 BC127672.1 BC127673.1 BT007336.1 DQ120124.1 DQ120125.1 DQ525913.1 11 DOTS entries: DT.91717981 DT.100712510 DT.121064863 DT.92038159 DT.100025537 DT.97845340 DT.91717968 DT.91717973 DT.121064861 DT.121064850 DT.97817104 24/157 AceView cDNA sequences (see all 157): BM726538 AJ609614 BQ638813 AV708330 BG236119 BE382709 NM_172056 BQ787600 AA151411 AJ512214 BE218498 BF115766 BM719472 BM752339 AW138328 AI220422 BQ478289 NM_000238 BQ068861 AA340285 NM_172057 BM683949 AI051655 BM739001
GeneLoc Exon Structure
|
Expression
for KCNH2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KCNH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGTTCATTC
About this image
See KCNH2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNH2
SOURCE GeneReport for Unigene cluster: Hs.647099
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809Tissue specificity: Highly expressed in heart and brain
SABiosciences Expression via Pathway-Focused PCR Array including KCNH2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KCNH2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH2 |
Orthologs
for KCNH2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KCNH2 gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
LOC1008581221 |
potassium voltage-gated channel subfamily H member more |
78.63(n)
80.65(a) |
|
100858122 XM_003640666.1 XP_003640714.1 |
lizard
(Anolis carolinensis) |
Reptilia |
KCNH26 |
-- |
60(a) |
possible ortholog |
GL343807.1(122230-201227) |
zebrafish
(Danio rerio) |
Actinopterygii |
kcnh2l1 |
potassium voltage-gated channel, subfamily H (eag-related), more |
64.22(n)
66.39(a) |
|
563802 NM_001042722.1 NP_001036187.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
sei3 |
potassium ion transport voltage-gated
potassium more |
68(a) |
|
-- |
worm
(Caenorhabditis elegans) |
Secernentea |
unc-1036 |
UNCoordinated family member (unc-103) |
47(a) |
1 → many |
III(4121438-4146421) |
ENSEMBL Gene Tree for KCNH2 (if available)
TreeFam Gene Tree for KCNH2 (if available) |
Paralogs
for KCNH2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KCNH2 gene
- KCNH62 KCNH32 KCNH52 HCN32 HCN42 HCN22 KCNH42 CNGA22
- CNGA12 HCN12 KCNH72 CNGB12 CNGA42 CNGA32 CNGB32 KCNH12
- KCNH82
9 SIMAP similar genes for KCNH2 using alignment to 14 protein entries: KCNH2_HUMAN (see all proteins):KCNH7 KCNH6 KCNH5 KCNH8 KCNH1 HCN3
HCN1 KCNH3 KCNH4
KCNH2 for paralogs About GeneDecksing
|
Genomic Variants
for KCNH2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KCNH2 (150642049 - 150675403 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KCNH2
2 CNVs: 3711 31400
Human Gene Mutation Database (HGMD): KCNH2
Locus Specific Mutation Databases (LSDB): KCNH2
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for KCNH2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KCNH2 for disorders About GeneDecksing
OMIM gene information: 152427
OMIM disorders: 613688 609620
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:613688]. Long QT syndromes are heartdisorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They causesyncope and sudden death in response to exercise or emotional stress. Deafness is often associated with LQT2 Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:609620]. Short QT syndromes are heartdisorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structuralheart disease in affected individuals. They cause syncope and sudden death
20/52  diseases for KCNH2 (see all 52): About MalaCardslong qt syndrome long qt syndrome-2, acquired long qt syndrome 2 jervell-lange nielsen syndrome
sudden infant death syndrome short qt syndrome 1 short qt syndrome supravalvular aortic stenosis
atrial fibrillation dna topoisomerase ii familial atrial fibrillation melanomatosis
ventricular tachycardia brugada syndrome barrett's esophagus hypokalemia
episodic ataxia conduct disorder acute myeloid leukemia gastroparesis
4 diseases from the University of Copenhagen DISEASES database for KCNH2:Long QT syndrome Brugada syndrome Familial atrial fibrillation Sudden infant death syndrome 10/40 Novoseek disease relationships for KCNH2 gene (see all 40) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| long qt syndrome |
97 |
170 |
18272172 (3), 11434015 (3), 11170080 (2), 11289718 (2) (see all 99) |
| torsades de pointes |
92.6 |
34 |
14975710 (2), 12904146 (1), 15519905 (1), 15671647 (1) (see all 31) |
| romano-ward syndrome |
85.2 |
2 |
18752142 (1), 10973849 (1) |
| arrhythmia |
85.2 |
96 |
7736582 (3), 19244476 (2), 15621040 (2), 16554806 (2) (see all 79) |
| death sudden |
81.6 |
22 |
14676148 (2), 11289718 (1), 11306689 (1), 16771953 (1) (see all 20) |
| death sudden cardiac |
76.6 |
17 |
16132053 (1), 8995352 (1), 15890322 (1), 18701618 (1) (see all 16) |
| ventricular arrhythmia |
74.7 |
9 |
19726880 (1), 15637086 (1), 18551196 (1), 12885765 (1) (see all 6) |
| ventricular tachyarrhythmia |
68.1 |
4 |
8914737 (1), 16226079 (1), 16942825 (1) |
| tachycardia ventricular |
64.4 |
8 |
12904146 (1), 15673388 (1), 15890322 (1), 18701618 (1) (see all 8) |
| ventricular fibrillation |
57.4 |
7 |
12904146 (1), 15673388 (1), 15640612 (1), 15890322 (1) (see all 7) |
GeneTests: KCNH2
Romano-Ward Syndrome
Genetic Association Database (GAD): KCNH2
Human Genome Epidemiology (HuGE) Navigator: KCNH2 (82 documents)
Export disorders for KCNH2 gene to outside databases
|
Publications
for KCNH2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KCNH2 gene, integrated from 9 sources (see all 852):
(articles sorted by number of sources associating them with KCNH2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Allelic variants in long-QT disease genes in patients with drug- associated torsades de pointes. (PubMed id 11997281)1, 2, 4, 9 Yang P.... Roden D.M. (2002)
- Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)1, 2, 4 Tester D.J....Ackerman M.J. (2005)
- Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)1, 2, 4 Westenskow P....Sanguinetti M.C. (2004)
- A family of potassium channel genes related to eag in Drosophila and mammals. (PubMed id 8159766)1, 2, 3 Warmke J.W. and Ganetzky B. (1994)
- Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. (PubMed id 9600240)1, 2, 9 Itoh T.... Nakamura Y. (1998)
- 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. (PubMed id 9351462)1, 2, 9 London B.... Robertson G.A. (1997)
- Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels. (PubMed id 12209010)1, 7, 9 Chen J....Sanguinetti M.C. (2002)
- A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current. (PubMed id 9765245)1, 2, 9 Kupershmidt S.... Roden D.M. (1998)
- Sudden death associated with short-QT syndrome linked to mutations in HERG. (PubMed id 14676148)1, 2, 9 Brugada R.... Antzelevitch C. (2004)
- Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. (PubMed id 12621127)1, 2, 9 Johnson W.H. Jr.... Benson D.W. (2003)
|
External Searches for KCNH2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing KCNH2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNH2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNH2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KCNH2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNH2 | | Wikipedia | http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels |
|
| | |
About This Section
| Patent Information for KCNH2 gene:
Search GeneIP for patents involving KCNH2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNH2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
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