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KCNH2 Gene

protein-coding GIFtS: 68

GC07M150272

potassium voltage-gated channel, subfamily H (eag-related), member 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LQT2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ERG ^³
ERG1 ^², ³
Erg1 ^³
H-ERG ^³
HERG ^¹, ², ³, ⁵
HERG1 ^², ³
Kv11.1 ^¹, ²
LQT2 ^², ⁵
SQT1 ^², ⁵
erg1 ^¹

Descriptions
Eag-related protein 1 ^³
Ether-a-go-go-related gene potassium channel 1 ^³
Ether-a-go-go-related protein 1 ^³
Voltage-gated potassium channel subunit Kv11.1 ^³
eag homolog ^³
ether-a-go-go-related potassium channel protein ^²
potassium voltage-gated channel, subfamily H (eag-related), member 2 ^²
voltage-gated potassium channel, subfamily H, member 2 ^²

External Ids
HGNC: 6251¹
Entrez Gene: 3757²
UniProtKB: Q12809³
Ensembl: ENSG00000055118⁷

Search outside databases for aliases for KCNH2 gene

Previous GC identifers: GC07M148888 GC07M149956 GC07M150033 GC07M150079

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KCNH2:

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]

UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809

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). Isoform 3 has no channel

activity by itself, but modulates channel characteristics when associated with isoform 1

Gene Wiki entry for KCNH2 (HERG)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KCNH2 gene

Entrez Gene cytogenetic band: 7q35-q36 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36.1

KCNH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M150272: (about GC identifiers)

Start:	150,272,982 bp from pter
End:	150,306,335 bp from pter
Size:	33,354 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 149,971,338-150,004,310

RefSeq DNA sequence:

NC_000007.12 NT_007914.14 NT_079596.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 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

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=CAA09232.1; Type=Erroneous gene model prediction;

PDB structure from and Proteopedia :

1BYW (3D)

1UJL (3D)

Secondary accessions: O75418 O75680 Q9BT72 Q9BUT7 Q9H3P0

Alternative splicing: 4 isoforms: Q12809-1 Q12809-2 Q12809-3 Q12809-4 (Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000229.1 NP_742053.1 NP_742054.1

ENSEMBL proteins:

ENSP00000262186 ENSP00000328531

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant KCNH2 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KCNH2)
	Human Recombinant Proteins from Abnova (KCNH2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008076	voltage-gated potassium channel complex	TAS	7736582
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for KCNH2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of KCNH2
	Sigma-Aldrich Antibodies for KCNH2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (KCNH2), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for KCNH2

Assays for KCNH2:

	Invitrogen Assays for KCNH2
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q12809

ProtoNet 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, Q12809

Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of

positively charged amino acids at every third position

Similarity: Belongs to the potassium channel family. H (Eag) subfamily

Similarity: Contains 1 cyclic nucleotide-binding domain

Similarity: Contains 1 PAC (PAS-associated C-terminal) domain

Similarity: Contains 1 PAS (PER-ARNT-SIM) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNH2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNH2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000238

Applied Biosystems Silencer® siRNAs for KCNH2

Sigma-Aldrich siRNA and siRNA Panels for KCNH2

Sigma-Aldrich shRNA Panels and shRNA for KCNH2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Millipore Clones for the Expression of KCNH2

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000238
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000238
untagged cDNA clones in CMV expression vector (see all 3): NM_000238

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000238

UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809

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). Isoform 3 has no channel

activity by itself, but modulates channel characteristics when associated 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 nucleotide gated channel,similar to IKr,the cardiac rapid delayed rectified potassium

channel

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Kcnh2):

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000155	two-component sensor activity	IEA	--
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005251	delayed rectifier potassium channel activity	TAS	7736582
GO:0030955	potassium ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for KCNH2 (Your Favorite Gene powered by Ingenuity)

Cellular Effects of Sildenafil (Viagra)
Neuropathic Pain Signaling In Dorsal Horn Neurons

GeneDecks KCNH2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for KCNH2

5/71 Interacting proteins for KCNH2 (ENSP00000262186³ Q12809²) via UniProtKB, MINT, and/or STRING (see all 71 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NDUFS6	O75380²	MINT-64086
RHOH	Q15669²	MINT-64255
KCNE1	ENSP00000337255³	STRING (score=.999)
KCNE2	ENSP00000290310³	STRING (score=.998)
KCNQ1	ENSP00000370153³	STRING (score=.997)

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5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000160	two-component signal transduction system (phosphorelay)	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006811	ion transport	IEA	--
GO:0006813	potassium ion transport	TAS	7736582
GO:0006936	muscle contraction	TAS	7736582

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for KCNH2:

Antagonist Inhibitor

Compounds for KCNH2 available from Tocris Bioscience

Compound	Action	CAS number
NS 1643	hERG channel activator. Antiarrhythmic	[448895-37-2]
Aniracetam	Desensitization inhibitor (AMPA > kainate)	[72432-10-1]
SG 209	K+ channel opener	[83440-03-3]
E-4031 dihydrochloride	HERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr)	[113559-13-0]
4-Aminopyridine	K+ channel blocker	[504-24-5]

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10/32 Novoseek chemical compound relationships for KCNH2 gene (see all 32 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	88.43	438	10028924 (5), 16495758 (4), 14517175 (4), 12208779 (4) (see all 99)
methanesulfonanilide	87.29	4	15519905 (1), 8649354 (1), 11090546 (1)
ly97241	79.85	5	9315735 (3), 12522086 (1)
merg	74.89	2	10191308 (1), 15176421 (1)
prucalopride	65.23	1	11714889 (1)
i.c. 20	52.76	2	15716081 (1), 16614168 (1)
sodium	47.13	36	8873679 (2), 10613047 (2), 8952843 (1), 9570196 (1) (see all 22)
pip2	22.71	4	15231497 (2), 12645305 (1), 17622552 (1)
katp	21.38	2	17027138 (1), 12490549 (1)
calcium	15.21	11	10860024 (1), 9508824 (1), 18382206 (1), 14557918 (1) (see all 10)

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5 PharmGKB drug compound relationships for KCNH2 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	CO FA GN	7736582 10219239 14525949 11997281
clarithromycin	FA GN	10219239
mexiletine	PD	8521555
quinidine	PD	9950666
sotalol	FA GN	14525949

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNH2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNH2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000238

Sigma-Aldrich siRNA and siRNA Panels for KCNH2

Sigma-Aldrich shRNA Panels and shRNA for KCNH2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000238 NM_172056 NM_172057

REFSEQ mRNAs for KCNH2 gene (3 alternative transcripts):

NM_000238.2 NM_172056.1 NM_172057.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000238 NM_172056 NM_172057

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000238
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000238

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 CR616390.1 DQ120124.1 DQ120125.1 DQ525913.1

11 DOTS entries:

DT.91717981 DT.100712510 DT.92038159 DT.121064863 DT.100025537 DT.97845340 DT.91717968 DT.91717973

DT.121064861 DT.121064850 DT.97817104

24/157 AceView cDNA sequences (see all 157 ):

AI560480 BT007336 NM_172057 BC001914 BE218498 BM756495 AJ609614 AA386088

CR616390 BM681195 BM739789 AA151411 BF983782 BQ638813 BQ424182 BQ068861

AI051655 BI823359 BQ890248 BE382709 BF115766 AI494574 AI220422 BM726538

highest scoring ESTs for KCNH2:

AF052728 U04270 AA076910 AA151410 AA151411 AA203512 AA297037 AA340285 AA386088 AA427490

Unigene Cluster for KCNH2:

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

Hs.647099 [show with all ESTs]

Unigene Representative Sequence: DQ525913

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000262186 ENST00000330883

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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KCNH2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KCNH2

¹ / ² / ³

6 probe-sets matching KCNH2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38858_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.11	U04270	0.80	1.00	0.91	1
38225_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.89	AF052728	0.80	1.00	0.91	1
205262_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000238	0.60	1.00	0.82	1
210036_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB044806	0.60	1.00	0.82	1
205262_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210036_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KCNH2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGGTTCATTC

SOURCE GeneReport for Unigene cluster: Hs.647099
Expression variation in blood from EXPOLDB for KCNH2
UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809
Tissue specificity: Highly expressed in heart and brain

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for KCNH2 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KCNH2¹	--	potassium voltage-gated channel, subfamily H (eag-related), more	91.8(n) 96.8(a)	403761 NM_001003145.1 NP_001003145.1
chimpanzee (Pan troglodytes)	KCNH2¹	--	potassium voltage-gated channel, subfamily H (eag-related), more	94.82(n) 94.52(a)	463894 XM_001137384.1 XP_001137384.1
cow (Bos taurus)	KCNH2¹	--	potassium voltage-gated channel, subfamily H (eag-related), more	91.92(n) 96.95(a)	539971 XM_590603.3 XP_590603.3
rat (Rattus norvegicus)	Kcnh2¹	--	potassium voltage-gated channel, subfamily H (eag-related), more	88.78(n) 95.94(a)	117018 NM_053949.1 NP_446401.1
mouse (Mus musculus)	Kcnh2^{1, 5}	5 (12.00 cM)⁵	potassium voltage-gated channel, subfamily H (eag-related), more^{1, 5}	88.51(n)¹ 96.11(a)¹	16511¹ NM_013569.1¹ NP_038597.1¹ AF012868⁵ AF012869⁵ (see all 12)

About this table Species with no ortholog for KCNH2

ENSEMBL Gene Tree for KCNH2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for KCNH2 gene

KCNH6² KCNH7²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/364 NCBI SNPs in KCNH2 are shown (see all 364 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 52)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1805123^1,2	C,F,H	150276467(-)	`GGACAC/AGGGTG`	2	T/K	mis¹ ese³		2		WA	758
--	rs11771844^1,2	C,F,H	150306843(+)	`ATCTGG/AAGGCC`	2	--	ng3¹		4		EU EA WA	414
--	rs4725385^1,2	A,C,F	150285753(+)	`TCTGCT/CCCAGG`	3	--	ng3¹ int¹		4		NS	376
	rs882156^1,2	A,C,F	150284269(-)	`TGGCCG/ACCTAC`	3	--	int¹ ng3¹		10		MN EA NA NS	1828
--	rs6968821^1,2	C,F	150285145(+)	`TCCCCC/ACATCG`	3	--	ng3¹ int¹ trp³		1		NS	94
--	rs7803184^1,2	C,F	150272902(+)	`TTCCTG/ATGCAG`	2	--	ng5¹		4		NS	376
--	rs2968859^1,2	A,C	150277755(-)	`CCTTTC/TTACCC`	3	--	int¹ ut3¹ ese³ trp³		0	--	--	--	--
--	rs41314360^1,2	F	150277203(+)	`CCCAAC/ACCACA`	3	--	int¹ ng5¹		1		NS	94
--	rs41307310^1,2	F	150284291(+)	`GGGGTG/AAGGGG`	3	--	ng3¹ int¹		1		NS	94
--	rs41309017^1,2	F	150306560(+)	`GGGACC/ACTTAG`	2	--	ng3¹		2		NS	188

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HapMap Linkage Disequilibrium images for KCNH2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 152427

UniProtKB/Swiss-Prot: KCNH2_HUMAN, Q12809

Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:152427]. Long QT

syndromes are heart disorders 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. 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 heart disorders characterized by idiopathic persistently and uniformly short QT

interval on ECG in the absence of structural heart disease in affected individuals. They cause

syncope and sudden death

10/40 Novoseek disease relationships for KCNH2 gene (see all 40 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
long qt syndrome	96.82	153	18272172 (3), 11434015 (3), 11170080 (2), 11289718 (2) (see all 99)
torsades de pointes	92.21	29	14975710 (2), 12904146 (1), 15519905 (1), 15671647 (1) (see all 26)
romano-ward syndrome	85.82	2	18752142 (1), 10973849 (1)
arrhythmia	84.74	87	7736582 (3), 19244476 (2), 15621040 (2), 16554806 (2) (see all 70)
death sudden	82.38	21	14676148 (2), 11289718 (1), 11306689 (1), 16771953 (1) (see all 19)
death sudden cardiac	76.55	15	16132053 (1), 8995352 (1), 15890322 (1), 18701618 (1) (see all 14)
ventricular arrhythmia	74.90	8	15637086 (1), 18551196 (1), 12885765 (1), 18782006 (1) (see all 5)
ventricular tachyarrhythmia	68.67	4	8914737 (1), 16226079 (1), 16942825 (1)
tachycardia ventricular	63.97	8	12904146 (1), 15673388 (1), 15890322 (1), 18701618 (1) (see all 8)
ventricular fibrillation	59.12	7	12904146 (1), 15673388 (1), 15640612 (1), 15890322 (1) (see all 7)

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2 PharmGKB disease relationships for KCNH2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Long QT Syndrome	CO PD FA GN	7736582 10219239 11997281 8521555
Torsades de Pointes	CO FA GN	14525949 11997281

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GeneTests: KCNH2

Romano-Ward Syndrome

Human Gene Mutation Database: KCNH2
Genetic Association Database: KCNH2
Human Genome Epidemiology Navigator: KCNH2 (51 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/569 PubMed articles for KCNH2 gene (see all 569 ):

Allelic variants in long-QT disease genes in patients with drug- associated torsades de pointes. (PubMed id 11997281)^{1, 3, 4, 6, 7} Yang P.... Roden D.M. (2002)
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PubMed id 10219239)^{1, 3, 4, 7} Abbott G.W.... Goldstein S.A.N. (1999)
Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)^{3, 4, 6} Westenskow P....Sanguinetti M.C. (2004)
The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. (PubMed id 14525949)^{1, 3, 7} Kupershmidt S.... Balser J.R. (2003)
A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. (PubMed id 7736582)^{1, 3, 7} Sanguinetti M.C....Keating M.T. (1995)
A family of potassium channel genes related to eag in Drosophila and mammals. (PubMed id 8159766)^{2, 3, 4} 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, 3, 4} 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, 3, 4} London B.... Robertson G.A. (1997)
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, 3, 4} Kupershmidt S.... Roden D.M. (1998)
Sudden death associated with short-QT syndrome linked to mutations in HERG. (PubMed id 14676148)^{1, 3, 4} Brugada R.... Antzelevitch C. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3757	HGNC: 6251	AceView: KCNH2	Ensembl:ENSG00000055118	euGenes: HUgn3757
ECgene: KCNH2	H-InvDB: KCNH2

(According to HUGE)
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Name	Description
LQTSdb	http://www.ssi.dk/graphics/html/lqtsdb/herg.htm
GeneReviews	http://www.genetests.org/query?gene=KCNH2
Wikipedia	http://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels

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KCNH2 Gene

protein-coding GIFtS: 68

Aliases &
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for KCNH2

Genomic Location
for KCNH2

Proteins
for KCNH2

Protein Domains/
Families
for KCNH2

Gene Function
for KCNH2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

KCNH2 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor KCNH2

Summariesfor KCNH2

Genomic Locationfor KCNH2

Proteinsfor KCNH2

Protein Domains/Familiesfor KCNH2

Gene Functionfor KCNH2

Pathways & Interactionsfor KCNH2

Drugs & Compoundsfor KCNH2

Transcriptsfor KCNH2

Expression for KCNH2

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Paralogsfor KCNH2

SNPs/Variantsfor KCNH2

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Medical Newsfor KCNH2

Publicationsfor KCNH2

Search for KCNH2

Genome Databases showing KCNH2

Other Databases showing KCNH2

Specialized Databases showing KCNH2

Licensable Technologiesfor KCNH2

Servicesfor KCNH2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for KCNH2

Summaries
for KCNH2

Genomic Location
for KCNH2

Proteins
for KCNH2

Protein Domains/
Families
for KCNH2

Gene Function
for KCNH2

Pathways & Interactions
for KCNH2

Drugs & Compounds
for KCNH2

Transcripts
for KCNH2

Expression
for KCNH2

Orthologs
for KCNH2

Paralogs
for KCNH2

SNPs/Variants
for KCNH2

Disorders & Mutations
for KCNH2

Medical News
for KCNH2

Publications
for KCNH2

Licensable Technologies
for KCNH2

Services
for KCNH2