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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] See more...
Aliases for KCNH2 Gene
Aliases for KCNH2 Gene
- Potassium Voltage-Gated Channel Subfamily H Member 2 2 3 4 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
- Long QT Syndrome Type 2 2 3
- Eag-Related Protein 1 3 4
- Eag Homolog 3 4
- HERG1 3 4
- ERG-1 3 4
- H-ERG 3 4
External Ids for KCNH2 Gene
- HGNC: 6251
- Entrez Gene: 3757
- Ensembl: ENSG00000055118
- OMIM: 152427
- UniProtKB: Q12809
Previous HGNC Symbols for KCNH2 Gene
- LQT2
Previous GeneCards Identifiers for KCNH2 Gene
- GC07M148888
- GC07M149956
- GC07M150033
- GC07M150079
- GC07M150272
- GC07M150642
- GC07M144454
Summaries 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 Cardiac conduction and Hematopoietic Stem Cell Differentiation. 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 Summary 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.
-
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.
Additional gene information for KCNH2 Gene
- Monarch Initiative
- Search for KCNH2 at DataMed
- Search for KCNH2 at HumanCyc
No data available for CIViC Summary , Rfam classification and piRNA Summary for KCNH2 Gene
Genomics for KCNH2 Gene
GeneHancer (GH) Regulatory Elements for KCNH2 Gene
Promoters and enhancers for KCNH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KCNH2 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNH2
- Top Transcription factor binding sites by QIAGEN in the KCNH2 gene promoter:
-
- AP-1
- c-Jun
- NRSF form 1
- NRSF form 2
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for KCNH2 Gene
Genomic Locations for KCNH2 Gene
- chr7:150,944,956-150,978,321
- (GRCh38/hg38)
- Size:
- 33,366 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:
-
- 7q36.1 by HGNC
- 7q36.1 by Entrez Gene
- 7q36.1 by Ensembl
KCNH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- Miscellaneous:
-
- [Isoform A-USO]: Twice more abundant than isoform 1 in heart.
- [Isoform 3.1]: Primate-specific. Lacks a domain that is crucial for slow channel deactivation.
- SequenceCaution:
-
- Sequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for KCNH2 Gene
Protein Expression for KCNH2 Gene
Post-translational modifications for KCNH2 Gene
- Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction.
-
Glycosylation at Asn598
- NX_Q12809 (NX_Q12809-1)
- Modification sites at PhosphoSitePlus
Other Protein References for KCNH2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ KCNH2 Antibody
- Creative Diagnostics Rabbit anti-KCNH2 Polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for KCNH2
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- Invitrogen Antibodies for KCNH2 (AFLGC-KCNH2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNH2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNH2
- Origene Custom Protein Services for KCNH2
- antibodies-online: Show 8 available KCNH2 Proteins ranked by validation data
- Compare Top KCNH2 Proteins
-
Quality Products:
-
Abcam proteins for KCNH2
Assay Products
-
Signalway ELISA kits for KCNH2
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
Protein Domains for KCNH2 Gene
- Blocks:
-
- PAC motif
- Cyclic nucleotide-binding domain
- PAS domain
- PAS fold
- EAG/ELK/ERG potassium channel family signature
- ERG potassium channel family signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KCNH2 Gene
- GenScript: Design optimal peptide antigens:
-
- Potassium voltage-gated channel subfamily H eag-related member 2 (A8WBZ2_HUMAN)
- Voltage-gated potassium channel subfamily H isoform 3.1 (C4PFH9_HUMAN)
- Voltage-gated channel subfamily H member 2 (C7DYB4_HUMAN)
- Voltage-gated potassium channel subunit Kv11.1 (KCNH2_HUMAN)
- Potassium channel HERG1 (Q45QN5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q12809UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005242 | inward rectifier potassium channel activity | IDA,IMP | 14525949 |
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005249 | voltage-gated potassium channel activity | IDA,IEA | 11953308 |
| GO:0005251 | delayed rectifier potassium channel activity | IGI | 25281747 |
Phenotypes for KCNH2 Gene
- MGI mutant phenotypes for KCNH2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KCNH2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNH2
miRNA for KCNH2 Gene
- miRTarBase miRNAs that target KCNH2
-
- hsa-mir-133a-3p (MIRT004831)
- hsa-mir-133b (MIRT004832)
- hsa-mir-335-5p (MIRT016707)
- hsa-mir-7-5p (MIRT025630)
- hsa-mir-34a-5p (MIRT733204)
- hsa-mir-328-3p (MIRT734250)
- hsa-mir-1205 (MIRT735980)
- hsa-mir-1253 (MIRT736541)
- hsa-mir-1275 (MIRT736925)
- hsa-mir-1286 (MIRT737053)
- hsa-mir-1288-3p (MIRT737081)
- hsa-mir-28-5p (MIRT739481)
- hsa-mir-3139 (MIRT740168)
- hsa-mir-4281 (MIRT743701)
- hsa-mir-4418 (MIRT744152)
- hsa-mir-4426 (MIRT744289)
- hsa-mir-4434 (MIRT744400)
- hsa-mir-4446-3p (MIRT744616)
- hsa-mir-4492 (MIRT745287)
- hsa-mir-4498 (MIRT745368)
- hsa-mir-4505 (MIRT745527)
- hsa-mir-4516 (MIRT745753)
- hsa-mir-4525 (MIRT745913)
- hsa-mir-4647 (MIRT746448)
- hsa-mir-4662b (MIRT746702)
- hsa-mir-4665-5p (MIRT746763)
- hsa-mir-4722-5p (MIRT747599)
- hsa-mir-4723-5p (MIRT747654)
- hsa-mir-4731-5p (MIRT747936)
- hsa-mir-4768-3p (MIRT748622)
- hsa-mir-5001-5p (MIRT749361)
- hsa-mir-5010-5p (MIRT749495)
- hsa-mir-509-3-5p (MIRT749669)
- hsa-mir-509-5p (MIRT749705)
- hsa-mir-5698 (MIRT751286)
- hsa-mir-5703 (MIRT751356)
- hsa-mir-5787 (MIRT751476)
- hsa-mir-6085 (MIRT751797)
- hsa-mir-625-5p (MIRT752593)
- hsa-mir-637 (MIRT752690)
- hsa-mir-6814-5p (MIRT756758)
- hsa-mir-6825-5p (MIRT756987)
- hsa-mir-6870-5p (MIRT757987)
- hsa-mir-708-5p (MIRT758811)
- hsa-mir-7106-5p (MIRT758861)
- hsa-mir-7111-5p (MIRT759044)
- hsa-mir-762 (MIRT759503)
- hsa-mir-765 (MIRT759566)
- hsa-mir-873-5p (MIRT760311)
miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH2
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Clone Products
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- RC215928L3
- RC215928L4
- RC216847
- RC216847L3
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- RC216897
- RC216897L3
- RC216897L4
- RC234408
- RG215928
- RG216847
- RG216897
- RG234408
- RR209809
- RR209809L3
- RR209809L4
- MR227000L3V
- MR227000L4V
- RC215928L1V
- RC215928L2V
- RC215928L3V
- RC215928L4V
- RC216847L3V
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- RC216897L4V
- RR209809L3V
- RR209809L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNH2
- Addgene plasmids for KCNH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNH2
- genomics-online: cdna clones - Search results for available KCNH2 gene related products
- orf clones - Search results for available KCNH2 gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS,IMP | -- |
| GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
| GO:0008076 | voltage-gated potassium channel complex | IMP | 25281747 |
| GO:0009986 | cell surface | IDA | 21536673 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNH2 Gene
Pathways & Interactions for KCNH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction | ||
| 2 | Potassium Channels | ||
| 3 | Glucose / Energy Metabolism | ||
| 4 | Antiarrhythmic Pathway, Pharmacodynamics | ||
| 5 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
-
|
|
Pathways by source for KCNH2 Gene
2 BioSystems pathways for KCNH2 Gene
6 Reactome pathways for KCNH2 Gene
1 PharmGKB pathway for KCNH2 Gene
1 Qiagen pathway for KCNH2 Gene
- Dopamine-DARPP32 Feedback onto cAMP Pathway
1 Cell Signaling Technology pathway for KCNH2 Gene
Interacting Proteins for KCNH2 Gene
Selected Interacting proteins:
Q12809-KCNH2_HUMAN
ENSP00000262186
for KCNH2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KCNH2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003064 | regulation of heart rate by hormone | TAS | 11953308 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006813 | potassium ion transport | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0035690 | cellular response to drug | IDA | 7604285 |
Drugs & Compounds for KCNH2 Gene
(218) Drugs for KCNH2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dofetilide | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor, blocker | 18 | ||
| Quinidine | Approved, Investigational | Pharma | Pore Blocker, Inhibition, Inhibitor, Target, inhibitor | 57 | ||
| Astemizole | Approved, Withdrawn | Pharma | Pore Blocker, Inhibitor, Target, inhibitor, antagonist | 0 | ||
| Terfenadine | Approved, Withdrawn | Pharma | Pore Blocker, Inhibitor, Target, inhibitor, antagonist | Histamine H1-receptor antagonist | 52 | |
| Amiodarone | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor, blocker | 130 |
(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 |
Transcripts for KCNH2 Gene
mRNA/cDNA for KCNH2 Gene
- 4 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262186 4292 bps (ENST00000262186.10)
- ENST00000330883 3165 bps (ENST00000330883.9)
- ENST00000430723 2648 bps (ENST00000430723.4)
- ENST00000461280 2430 bps (ENST00000461280.1)
- ENST00000473610 2782 bps (ENST00000473610.5)
CRISPR Products
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OriGene CRISPR knockouts for KCNH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KCNH2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNH2
miRNA Products
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- MG227000
- MR227000
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- RC215928L4
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- RC216847L3
- RC216847L4
- RC216897
- RC216897L3
- RC216897L4
- RC234408
- RG215928
- RG216847
- RG216897
- RG234408
- RR209809
- RR209809L3
- RR209809L4
- MR227000L3V
- MR227000L4V
- RC215928L1V
- RC215928L2V
- RC215928L3V
- RC215928L4V
- RC216847L3V
- RC216847L4V
- RC216897L3V
- RC216897L4V
- RR209809L3V
- RR209809L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for KCNH2
- Addgene plasmids for KCNH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KCNH2
- genomics-online: cdna clones - Search results for available KCNH2 gene related products
- orf clones - Search results for available KCNH2 gene related products
Relevant External Links for KCNH2 Gene
- GeneLoc Exon Structure for
- KCNH2
Expression for KCNH2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
- Brain (Nervous System)
-
Heart (Cardiovascular System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNH2
SOURCE GeneReport for Unigene cluster for KCNH2 Gene:
Hs.647099mRNA 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
Primer Products
-
OriGene qPCR primer pairs for KCNH2
- genomics-online: primer clones - Search results for available KCNH2 gene related products
Gene Expression Assay Products
Orthologs for KCNH2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNH2 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KCNH2 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KCNH2 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KCNH2 31 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Kcnh2 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Kcnh2 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | LOC100858122 30 |
|
||
| KCNH2 31 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | KCNH2 31 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01076216.1 31 |
|
OneToMany | |
| KCNH2 (4 of 5) 31 |
|
OneToMany | |||
| kcnh2a 31 30 |
|
OneToMany | |||
| kcnh6 31 |
|
OneToMany | |||
| KCNH2 (2 of 5) 31 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sei 32 |
|
|
- 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
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
Variants for KCNH2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNH2 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 637977 | Pathogenic: Long QT syndrome 2 | 150,947,371(-) | C/CG | FRAMESHIFT_VARIANT | |
| 637978 | Uncertain Significance: Long QT syndrome 2 | 150,958,409(-) | C/A | MISSENSE_VARIANT | |
| 638156 | Pathogenic: Long QT syndrome 2 | 150,977,867(-) | TC/T | FRAMESHIFT_VARIANT | |
| 640022 | Pathogenic: Long QT syndrome | 150,950,308(-) | GC/G | FRAMESHIFT_VARIANT | |
| 640120 | Uncertain Significance: Long QT syndrome | 150,947,615(-) | G/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv11721n54 | CNV | loss | 21841781 |
| dgv3695n106 | OTHER | inversion | 24896259 |
| esv2759574 | CNV | loss | 17122850 |
| nsv1030109 | CNV | gain | 25217958 |
| nsv1067934 | OTHER | inversion | 25765185 |
| nsv1076015 | CNV | deletion | 25765185 |
| nsv1119149 | CNV | deletion | 24896259 |
| nsv1137595 | CNV | deletion | 24896259 |
| nsv1151906 | OTHER | inversion | 26484159 |
| nsv465213 | CNV | loss | 19166990 |
| nsv608990 | CNV | gain | 21841781 |
| nsv609002 | CNV | loss | 21841781 |
| nsv8231 | CNV | gain | 18304495 |
| nsv951648 | CNV | deletion | 24416366 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH2 Gene
Disorders for KCNH2 Gene
(54) MalaCards diseases for KCNH2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| long qt syndrome 2 |
|
|
| short qt syndrome 1 |
|
|
| familial short qt syndrome |
|
|
| long qt syndrome |
|
|
| long qt syndrome 1 |
|
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
No data available for Genatlas for KCNH2 Gene
Publications for KCNH2 Gene
- 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 41 54
- 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 41 54
- 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 23 41 54
- 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 23 41 54
- Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. (PMID: 16414944) Napolitano C … Leonardi S (JAMA 2005) 3 4 41 54
ExternalLinks
Products for KCNH2 Gene
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 45 available KCNH2 Antibodies ranked by validation data
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- Quality Products:
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- genomics-online: cdna clones - Search results for available KCNH2 gene related products
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Sources for KCNH2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
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- (126) The Signaling Pathways Project (SPP)
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- (128) VectorBuilder
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- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) H