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KCNH3 Gene

protein-coding   GIFtS: 54

GC12P048219
potassium voltage-gated channel, subfamily H (eag-related), member 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BEC1 1, 2, 3, 5
ELK2 2, 3
KIAA1282 2, 3
Kv12.2 1, 2
elk2 1
Descriptions
Brain-specific eag-like channel 1 3
ELK channel 2 3
Ether-a-go-go-like potassium channel 2 3
Voltage-gated potassium channel subunit Kv12.2 3
ether-a-go-go K(+) channel family member 2
potassium voltage-gated channel, subfamily H (eag-related),
member 3 2
External Ids
HGNC: 62521
Entrez Gene: 234162
UniProtKB: Q9ULD83
Ensembl: ENSG000001355197
Search outside databases for aliases for KCNH3 gene

Previous GC identifers: GC12P050150 GC12P049989 GC12P049649

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: KCNH3_HUMAN, Q9ULD8
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward
current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly

(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 KCNH3 gene  

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13

KCNH3 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 12         GeneLoc Exon Structure

GeneLoc location for GC12P048219:     (about GC identifiers)

Start:
48,219,207 bp from pter
End:
48,238,344 bp from pter
Size:
19,138 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000012.10  NT_029419.11  
(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)
About This Section

UniProtKB/Swiss-Prot: KCNH3_HUMAN, Q9ULD8 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 3  
Size: 1083 amino acids; 117129 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
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q9UQ06

REFSEQ proteins: NP_036416.1  

ENSEMBL proteins: 
ENSP00000257981 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
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
Browse Abcam for Recombinant Proteins
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016020 membrane IEA--
GO:0016021 integral to membrane NAS10455180
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Antibodies for KCNH3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for KCNH3

Assays for KCNH3: 
Browse Invitrogen for biochemical assays
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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5/10 InterPro domains/families (see all 10 ):
 IPR003950 K_chnl_volt-dep_ELK
 IPR018488 cNMP_bd_CS
 IPR005821 Ion_trans
 IPR000595 cNMP_bd
 IPR001610 PAC


   GeneDecks  KCNH3 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9ULD8

ProtoNet protein and cluster: Q9ULD8

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
IPB003950 ELK potassium channel family signature


UniProtKB/Swiss-Prot: KCNH3_HUMAN, Q9ULD8
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.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (KCNH3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_035483

              Applied Biosystems Silencer® siRNAs for KCNH3

              Sigma-Aldrich siRNA and siRNA Panels for KCNH3  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012284
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_012284
                                 untagged cDNA clone in CMV expression vector: NM_012284 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_012284

UniProtKB/Swiss-Prot: KCNH3_HUMAN, Q9ULD8
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward
current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly

Genatlas biochemistry entry for KCNH3:
potassium voltage-gated channel,subfamily H (eag-related),member 3,ether-a-go-go K+ channel family
member,exclusively expressed in the brain,mainly in the cerebral cortex,amygdala,hippocampus and
striatum

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000155 two-component sensor activity IEA--
GO:0005244 voltage-gated ion channel activity IEA--
GO:0005249 voltage-gated potassium channel activity TAS10455180
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.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  KCNH3 


5 Interacting proteins for KCNH3 (ENSP000002579813) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
ELK1ENSP000003661843STRING (score=.739)
ETS2ENSP000003533443STRING (score=.712)
--ENSP000003561143STRING (score=.796)
--ENSP000003736493STRING (score=.706)
--ENSP000003672013STRING (score=.702)
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4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed 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 TAS10455180
About this table
(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)
About This Section

Enzo Life Sciences drugs & compounds for KCNH3
Browse Small Molecules at Sigma-Aldrich

Compounds for KCNH3 available from Tocris Bioscience
CompoundAction CAS number
AM 92016 hydrochlorideKV channel blocker[178894-81-0]
KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
SG 209K+ channel opener[83440-03-3]
4-AminopyridineK+ channel blocker[504-24-5]
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 (KCNH3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_035483

              Sigma-Aldrich siRNA and siRNA Panels for KCNH3  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_012284  

REFSEQ mRNAs for KCNH3 gene: 

NM_012284.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_012284  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012284
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_012284
                                 untagged cDNA clone in CMV expression vector: NM_012284 

Additional cDNA sequence: 

AB022696.1 AB033108.1 BC033141.1 BC144254.1 BC150602.1 

1 DOTS entry:

DT.403685 

24/39 AceView cDNA sequences (see all 39 ):

CA433932 AW248878 BM452074 AI272282 NM_012284 BX095172 BC033141 AB033108 
AB022696 CD106245 BU187340 AI017220 BG060031 BQ045257 AW082228 BV185837 
AI124750 AI627894 BE778330 AW249035 BE795800 AI873733 U69184 M79045 

highest scoring ESTs for KCNH3:

AB022696 AB033108 AI124750 AI627894 AI873733 AW248597 AW248878 AW249035 AW251056 AW518396 

Unigene Cluster for KCNH3:

Potassium voltage-gated channel, subfamily H (eag-related), member 3
Hs.64064  [show with all ESTs]
Unigene Representative Sequence: NM_012284


GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH3

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:                                            -                                                               
SP2:                                                                                                            
SP3:                                                                                                            

About this scheme

ECgene alternative splicing isoforms for KCNH3

1 Ensembl transcript including schematic representation:
ENST00000257981  
(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 )
About This Section

KCNH3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KCNH3

1 / 2 / 3

3 probe-sets matching KCNH3 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
53681_at2, 3 U95-C 1 0.62 1.00 1.00 1.00 R38427 0.60 1.00 0.82 1

223726_at2, 3 U133-B 1 1.00 1.00 -- -- AB022696 0.80 1.00 0.91 1

223726_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  KCNH3 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.64064

UniProtKB/Swiss-Prot: KCNH3_HUMAN, Q9ULD8
Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in the
cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and
caudate nucleus

(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)
About This Section


Orthologs for KCNH3 gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
KCNH31   -- potassium voltage-gated channel, subfamily H (eag-related), more 89.57(n)
92.69(a)
486556  XM_543682.2  XP_543682.2 
chimpanzee
(Pan troglodytes)
KCNH31   -- potassium voltage-gated channel, subfamily H (eag-related), more 99.63(n)
99.72(a)
451880  XM_509046.2  XP_509046.2 
cow
(Bos taurus)
KCNH31   -- potassium voltage-gated channel, subfamily H (eag-related), more 92.3(n)
95.9(a)
514409  XM_592255.3  XP_592255.3 
rat
(Rattus norvegicus)
Kcnh31   -- potassium voltage-gated channel, subfamily H (eag-related), more 89.32(n)
95.94(a)
27150  NM_017108.1  NP_058804.1 
mouse
(Mus musculus)
Kcnh31, 5 155
potassium voltage-gated channel, subfamily H (eag-related), more1, 5 89.72(n)1
95.84(a)1
165121  NM_010601.21  NP_034731.21 
 AF1091435  AK1350935  (see all 10)
About this table        Species with no ortholog for KCNH3

ENSEMBL Gene Tree for KCNH3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KCNH3 gene
KCNH42  KCNH82  

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


10/92 NCBI SNPs in KCNH3 are shown (see all 92 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 60)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs111690631,2
A,C,F,H48217852(+) GCTGAT/CGAGGG 1 -- ng514Minor allele frequency- C:0.29EU EA WA 414
--
rs11500561,2
A,C48218134(-) TGCCCG/TGGGGC 1 -- ng510--------
rs116131831,2
C48217997(+) CTCGCC/TGGCAA 1 -- ng510--------
--
rs38633901,2
A48217421(+) ccgtcA/Ccaaaa 1 -- ng510--------
rs11500571,2
A,C,F,H,O48224080(-) AGCGCT/CGCGAT 1 A/A syn1 ese39Minor allele frequency- C:0.20MN EU EA WA NA 806
rs22414181,2
A,C48237499(-) CACGGA/GCCCTC 1 G/G syn1 ese30--------
rs348066601,2
F48237445(+) GAAGGA/GCTGCA 1 G/G syn11Minor allele frequency- G:0.07NA 60
rs123161751,2
H48234472(+) TACTGC/TGTCCT 1 C/C syn1 ese33Minor allele frequency- T:0.00EU EA 300
rs22780691,2
A,C,F,H,O48230775(-) CTCACT/CGTTCC 1 -- int18Minor allele frequency- C:0.10EA NA EU WA 2016
rs19023301,2
A,C,F,H,O48226220(+) CTTCAG/ACTCCC 1 -- int17Minor allele frequency- A:0.13EU EA WA NA 542
About this table

HapMap Linkage Disequilibrium images for KCNH3 (up to first 250kb)

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

OMIM: 604527

(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)
About This Section

5 PubMed articles for KCNH3 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 23416 HGNC: 6252 AceView: KCNH3 Ensembl:ENSG00000135519 euGenes: HUgn23416
ECgene: KCNH3 H-InvDB: KCNH3
(According to HUGE)
About This Section

HUGE: KIAA1282
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for KCNH3:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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 Predesigned and custom siRNAs for KCNH3 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for KCNH3 Browse small molecules at Sigma-Aldrich
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