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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNH1 Gene

protein-coding GIFtS: 63
GCID: GC01M210851

potassium voltage-gated channel, subfamily H (eag-related),...

Explore 31 diseases affiliated with
KCNH1 via

MalaCards

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Human Malady Compendium

(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 1¹ ²		EAG Channel 1² ³
H-Eag¹		HEAG1¹
EAG² ³ ⁵		Eag¹
Kv10.1¹ ²		Eag1¹
Ether-A-Go-Go Potassium Channel 1² ³		Ether-A-Go-Go, Drosophila, Homolog Of²
Voltage-Gated Potassium Channel Subunit Kv10.1² ³		Potassium Voltage-Gated Channel Subfamily H Member 1²
EAG1² ³

External Ids:	HGNC: 6250¹	Entrez Gene: 3756²	Ensembl: ENSG00000143473⁷	OMIM: 603305⁵	UniProtKB: O95259³

Export aliases for KCNH1 gene to outside databases

Previous GC identifers: GC01M209587 GC01M206691 GC01M207495 GC01M207935 GC01M207244 GC01M208923 GC01M181528

(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 KCNH1:

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both

functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart

rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell

volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming

(alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset

of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may

confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene

results in two transcript variants encoding distinct isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259

Function: Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifier potassium channel. Channel

properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts

summary for KCNH1:

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 KCNH1

(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_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNH1 gene promoter:
HOXA3 FOXF2 FOXO3b C/EBPalpha S8 SRY FOXJ2 (long isoform) FOXO4 FOXO3a FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNH1 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNH1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNH1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.2 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32.2

KCNH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M210851: view genomic region (about GC identifiers)

Start:	210,851,657 bp from pter	End:	211,307,457 bp from pter
Size:	455,801 bases	Orientation:	minus strand

(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: KCNH1_HUMAN, O95259 (See protein sequence)

Recommended Name: Potassium voltage-gated channel subfamily H member 1

Size: 989 amino acids; 111423 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 KCNH5/EAG2. Interacts with ALG10B (By

similarity)

Subcellular location: Cell membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane protein.

Note=Perinuclear KCNH1 is located to NPC-free islands

Secondary accessions: B1AQ26 O76035 Q14CL3

Alternative splicing: 2 isoforms: O95259-1 O95259-2

Explore the universe of human proteins at neXtProt for KCNH1: NX_O95259

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95259

KCNH1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_002229.1 NP_758872.1

ENSEMBL proteins:

ENSP00000271751 ENSP00000355974

Reactome Protein details: O95259
Human Recombinant Protein Products for KCNH1:

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	Uscn Proteins for KCNH1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005637	nuclear inner membrane	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	TAS	9738473

KCNH1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KCNH1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCNH1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR003949 K_chnl_volt-dep_EAG

IPR018490 cNMP-bd-like

IPR005821 Ion_trans_dom

IPR000595 cNMP-bd_dom

IPR001610 PAC

Graphical View of Domain Structure for InterPro Entry O95259

ProtoNet protein and cluster: O95259

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

IPB003949 EAG potassium channel signature

UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259

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) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KCNH1_HUMAN, O95259

Function: Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifier potassium channel. Channel

properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts

Genatlas biochemistry entry for KCNH1:

potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,expressed in myoblasts at the onset

of fusion and in adult brain tissue,similar to the non-inactivating delayed rectified potassium channel (I(K(NI))

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000155	phosphorelay sensor kinase activity	IEA	--
GO:0005251	delayed rectifier potassium channel activity	TAS	9738473
GO:0005515	protein binding	IPI	10880439
GO:0005516	calmodulin binding	IEA	--

KCNH1 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Kcnh1):

behavior/neurological

KCNH1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Kcnh1^tm1Lex for KCNH1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KCNH1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH1

(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 About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Potassium Channels

	Potassium Channels	1.00			Potassium transporters: outward current	0.42
	Voltage gated Potassium channels	0.43

Dopamine-DARPP32 Feedback onto cAMP Pathway

Dopamine-DARPP32 Feedback onto cAMP Pathway

1.00

Transmission across Chemical Synapses

Neuronal System

0.67

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KCNH1

Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNH1

Dopamine-DARPP32 Feedback onto cAMP Pathway

3 Reactome Pathways for KCNH1

	Potassium Channels
	Neuronal System
	Voltage gated Potassium channels

KCNH1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/52 Interacting proteins for KCNH1 (O95259^{1, 2, 3} ENSP00000271751⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM2	P62158¹^,²^,³	EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3
CALM3	P62158¹^,²^,³	EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3
CALM1	P62158¹^,²^,³, ENSP00000349467⁴	EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3 STRING: ENSP00000349467
KCNF1	Q9H3M0³, ENSP00000295082⁴	I2D: score=2 STRING: ENSP00000295082
KCNC1	P48547³, ENSP00000265969⁴	I2D: score=1 STRING: ENSP00000265969

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006813	potassium ion transport	TAS	9738473
GO:0007268	synaptic transmission	TAS	--
GO:0007520	myoblast fusion	TAS	9738473

KCNH1 for ontologies About GeneDecksing

(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

KCNH1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNH1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Chromanol 293B	IKs blocker. Also blocks ICFTR	[163163-23-3]
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
(-)-[3R,4S]-Chromanol 293B	IKs blocker. Enantiomer of Chromanol 293B (Cat. No. 1412)	[163163-24-4]
4-Aminopyridine	Non-selective KV channel blocker	[504-24-5]

2 HMDB Compounds for KCNH1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--
Potassium	K+ (see all 16)	7440-09-7	--

2 Novoseek chemical compound relationships for KCNH1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	65.3	14	9490815 (2), 10880439 (1), 16478480 (1), 8938715 (1) (see all 9)
retinoic acid	34.2	3	9490815 (3)

Search CenterWatch for drugs/clinical trials and news about KCNH1

(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,
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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 KCNH1 gene (2 alternative transcripts):

NM_002238.3 NM_172362.2

Unigene Cluster for KCNH1:

Potassium voltage-gated channel, subfamily H (eag-related), member 1

Hs.553187 [show with all ESTs]

Unigene Representative Sequence: NM_172362

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000271751 ENST00000367007(uc001hib.2 uc001hic.2)

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Additional cDNA sequence:

AJ001366.1 AK127526.1 BC113709.1 BC143599.1

3 DOTS entries:

DT.95103014 DT.91753863 DT.100008058

5 AceView cDNA sequences:

NM_172362 AJ001366 NM_002238 AF078741 AF078742

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11a	·	11b
SP1:															-
SP2:

ECgene alternative splicing isoforms for KCNH1

(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

KCNH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

KCNH1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Nkx2-1 GFP+ cells (Efficient derivation...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KCNH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNH1

SOURCE GeneReport for Unigene cluster: Hs.553187

UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259

Tissue specificity: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues.

Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal

epithelial cells

SABiosciences Expression via Pathway-Focused PCR Array including KCNH1:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

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(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 KCNH1 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNH1¹	potassium voltage-gated channel, subfamily H (eag-related), more	80.7(n) 93.19(a)		421381 XM_419440.3 XP_419440.3
lizard (Anolis carolinensis)	Reptilia	KCNH1⁶	--	91(a)	1 ↔ 1	1(237491289-237757445)
zebrafish (Danio rerio)	Actinopterygii	kcnh1a¹	potassium voltage-gated channel, subfamily H (eag-related), more	73.47(n) 83.19(a)		560568 NM_001044931.1 NP_001038396.1
fruit fly (Drosophila melanogaster)	Insecta	eag^{1 , 3}	courtship behavior voltage-gated potassium channel³ ether a go-go¹	60(a)³ 61.46(n)¹ 62.84(a)¹		32428¹ NM_001201663.1¹ NP_001188592.1¹
worm (Caenorhabditis elegans)	Secernentea	egl-2^{1 , 3}	channel protein³ Protein EGL-2¹	57(a)³ 58.48(n)¹ 59.22(a)¹		V(1289525-1299037)³ 178624¹ NM_071001.3¹ NP_503402.3¹

ENSEMBL Gene Tree for KCNH1 (if available)
TreeFam Gene Tree for KCNH1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KCNH1 gene

KCNH6² KCNH3² KCNH5² HCN3² HCN4² HCN2² KCNH4² CNGA2²

CNGA1² HCN1² KCNH7² KCNH2² CNGB1² CNGA4² CNGA3² CNGB3²

KCNH8²

7 SIMAP similar genes for KCNH1 using alignment to 2 protein entries: KCNH1_HUMAN (see all proteins):

KCNH5 KCNH7 KCNH2 KCNH8 KCNH3 KCNH6

KCNH4

KCNH1 for paralogs About GeneDecksing

(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)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79890627^1,2	F	--	181528001(+)	`AGTGTA/CCATCT`	2	--	ds500¹		1		NA	120
rs34700735^1,2	C,F	--	181528008(+)	`ATCTAA/CGTGGG`	2	--	ds500¹		4		NA	126
rs76297704^1,2		--	181528078(+)	`CAGGCA/GCTGAA`	2	--	ds500¹		0	--	--	--	--
rs4951746^1,2	H	--	181528682(+)	`GATGAA/GCTGCT`	2	--	ut3¹		4		NS EA	420
rs74156018^1,2	C	--	181528817(+)	`CATAAG/TATCAG`	2	--	ut3¹		2		WA	120
rs17260634^1,2	C,F,H	--	181528877(+)	`ATCCGT/CCGGAT`	2	--	ut3¹		8		NA NS EA	682
rs61827458^1,2		--	181529727(+)	`CCTGCC/TCAGCC`	2	--	ut3¹		2		NA	122
rs17260648^1,2	C	--	181529882(+)	`AGTTTG/CCTGGA`	2	--	ut3¹		4		NA	262
rs17188444^1,2	C	--	181530121(+)	`TATATG/AGGATG`	2	--	ut3¹		4		NA	262
rs113873999^1,2	C	--	181530242(+)	`GAGCAC/TGTTCA`	2	--	ut3¹		1		NA	2

HapMap Linkage Disequilibrium report for KCNH1 (210851657 - 211101657 bp, first 250kb of KCNH1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KCNH1
1 CNV: 97626
1 Indel: 44505

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(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.)
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KCNH1 for disorders           About GeneDecksing

OMIM gene information: 603305    OMIM disorders: --

20/31 diseases for KCNH1 (see all 31):    About MalaCards

long qt syndrome soft tissue sarcoma pernicious anemia esophageal squamous cell carcinoma

squamous cell carcinoma acute myeloid leukemia neuronitis myeloid leukemia

glomerulonephritis papilloma hepatitis b cervicitis

gastritis anemia cervical carcinoma sarcoma

colon carcinoma cervical cancer esophagitis colon cancer

1 Novoseek disease relationship for KCNH1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	2.26	3	19351862 (1), 15365094 (1), 20105281 (1)

Human Genome Epidemiology (HuGE) Navigator: KCNH1 (6 documents)

Export disorders for KCNH1 gene to outside databases

(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)
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PubMed articles for KCNH1 gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with KCNH1)

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Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. (PubMed id 9738473)^{1, 2, 3, 9} Occhiodoro T.... Fischer-Lougheed J. (1998)
Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin. (PubMed id 10880439)^{1, 2, 9} Schoenherr R.... Heinemann S.H. (2000)
Functional K(v)10.1 channels localize to the inner nu clear membrane. (PubMed id 21559285)^{1, 2} Chen Y....StA1hmer W. (2011)
International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)^{1, 3} Gutman G.A....Wang X. (2005)
Functional distinction of human EAG1 and EAG2 potassium channels. (PubMed id 11943152)^{1, 2} Schoenherr R.... Heinemann S.H. (2002)
Oncogenic potential of EAG K(+) channels. (PubMed id 10523298)^{1, 2} Pardo L.A.... Stuehmer W. (1999)
Ether a go-go potassium channel expression in soft tissue sarcoma patients. (PubMed id 17022811)^{1, 9} Mello de Queiroz F....Pardo L.A. (2006)
The potassium channel Ether A go-go is a novel progno stic factor with functional relevance in acute myeloid leukemia. (PubMed id 20105281)^{1, 9} Agarwal J.R....Pardo L.A. (2010)
Roles of surface residues of intracellular domains of heag potassium channels. (PubMed id 19172261)^{1, 9} Stevens L....Wray D. (2009)
Inhibition of human ether a go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini. (PubMed id 16478480)^{1, 9} Ziechner U....Heinemann S.H. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3756	HGNC: 6250	AceView: KCNH1	Ensembl:ENSG00000143473	euGenes: HUgn3756
ECgene: KCNH1	H-InvDB: KCNH1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNH1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KCNH1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for KCNH1 gene
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Patent Information for KCNH1 gene:
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