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KCNH8 Gene

protein-coding   GIFtS: 49

GC03P019165
potassium voltage-gated channel, subfamily H (eag-related), member 8
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
ELK 2
ELK1 2, 3
ELK3 3
Kv12.1 1, 2
elk3 1, 2
hElk1 3
Descriptions
ELK channel 3 3
Ether-a-go-go-like potassium channel 3 2, 3
Voltage-gated potassium channel subunit Kv12.1 3
ether-a-go-go-like potassium channel 1 2
potassium voltage-gated channel, subfamily H (eag-related),
member 8 2
potassium voltage-gated channel, subfamily H, member 8 2
External Ids
HGNC: 188641
Entrez Gene: 1310962
UniProtKB: Q96L423
Ensembl: ENSG000001839607
Search outside databases for aliases for KCNH8 gene

Previous GC identifers: GC03P018574 GC03P018804 GC03P019040

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KCNH8:
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. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly
activating, outward rectifying current. 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 KCNH8 gene  

Entrez Gene cytogenetic band: 3p24.3   Ensembl cytogenetic band:  3p24.3   HGNC cytogenetic band: 3p24.3

KCNH8 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 3         GeneLoc Exon Structure

GeneLoc location for GC03P019165:     (about GC identifiers)

Start:
19,165,021 bp from pter
End:
19,552,139 bp from pter
Size:
387,119 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  
(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: KCNH8_HUMAN, Q96L42 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 8  
Size: 1107 amino acids; 123804 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: Q59GQ6

REFSEQ proteins: NP_653234.2  

ENSEMBL proteins: 
ENSP00000328813 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
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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 IEA--
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Antibodies for KCNH8: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for KCNH8
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 KCNH8

Assays for KCNH8: 
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)
About This Section

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  KCNH8 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q96L42

ProtoNet protein and cluster: Q96L42

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: KCNH8_HUMAN, Q96L42
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 (KCNH8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144633

              Applied Biosystems Silencer® siRNAs for KCNH8

              Sigma-Aldrich siRNA and siRNA Panels for KCNH8  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH8  
                     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_144633
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_144633
                                 untagged cDNA clone in CMV expression vector: NM_144633 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_144633

UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly
activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit
assembly

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 IEA--
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  KCNH8 


5/10 Interacting proteins for KCNH8 (ENSP000003288133) via UniProtKB, MINT, and/or STRING (see all 10 )
InteractantInteraction Details
GeneCardExternal ID(s)
MAPK1ENSP000002158323STRING (score=.946)
SRFENSP000002653543STRING (score=.909)
FOSENSP000003062453STRING (score=.881)
MAP2K1ENSP000003024863STRING (score=.866)
MAPK3ENSP000002630253STRING (score=.856)
About this table

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 IEA--
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 KCNH8
Browse Small Molecules at Sigma-Aldrich

Compounds for KCNH8 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]
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1 Novoseek chemical compound relationship for KCNH8 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
potassium 32.84 1 12890647 (1)
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(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 (KCNH8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144633

              Sigma-Aldrich siRNA and siRNA Panels for KCNH8  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH8  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_144633  

REFSEQ mRNAs for KCNH8 gene: 

NM_144633.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_144633  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_144633
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_144633
                                 untagged cDNA clone in CMV expression vector: NM_144633 

Additional cDNA sequence: 

AB209053.1 AK294417.1 AK294759.1 AK295633.1 AK309034.1 AY053503.1 

5 DOTS entries:

DT.426005  DT.120856306  DT.75168344  DT.95219980  DT.92011108 

9 AceView cDNA sequences:

BX095864 AI187878 BC031226 BE244277 NM_144633 AY053503 CD637042 CD637044 
N55423 

highest scoring ESTs for KCNH8:

AI187878 AY053503 BX095864 N55423 AA974031 AB209053 AL707308 AL708181 BC031226 BE244277 

Unigene Cluster for KCNH8:

Potassium voltage-gated channel, subfamily H (eag-related), member 8
Hs.475656  [show with all ESTs]
Unigene Representative Sequence: AY053503


GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH8

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

About this scheme

ECgene alternative splicing isoforms for KCNH8

1 Ensembl transcript including schematic representation:
ENST00000328405  
(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

KCNH8 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KCNH8

1 / 2 / 3

1 probe-set matching KCNH8 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

1552742_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: ATTTAAGGTC

SOURCE GeneReport for Unigene cluster: Hs.475656

UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42
Tissue specificity: Primarily expressed in the nervous system

(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 KCNH8 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
KCNH81   -- potassium voltage-gated channel, subfamily H (eag-related), more 92.32(n)
95.93(a)
485649  XM_542769.2  XP_542769.2 
chimpanzee
(Pan troglodytes)
KCNH81   -- potassium voltage-gated channel, subfamily H (eag-related), more 99.52(n)
99.19(a)
460215  XM_001162632.1  XP_001162632.1 
rat
(Rattus norvegicus)
Kcnh81   -- potassium voltage-gated channel, subfamily H (eag-related), more 86.71(n)
92.64(a)
246325  NM_145095.1  NP_659563.1 
mouse
(Mus musculus)
Kcnh81, 5 175
potassium voltage-gated channel, subfamily H (eag-related), more1, 5 86.92(n)1
92.55(a)1
2114681  NM_001031811.11  NP_001026981.11 
 AC1220555  AC1225405  (see all 13)
chicken
(Gallus gallus)
KCNH81   -- potassium voltage-gated channel, subfamily H (eag-related), more 78.96(n)
84.27(a)
420648  XM_418747.2  XP_418747.2 
About this table        Species with no ortholog for KCNH8

ENSEMBL Gene Tree for KCNH8
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KCNH8 gene
KCNH42  KCNH32  

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


10/1342 NCBI SNPs in KCNH8 are shown (see all 1342 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 402)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 3 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs170060481,2
C,F,H19551945(+) TAACAG/AGCAAA 1 -- ut31 ese311Minor allele frequency- A:0.11NA EU EA WA 974
rs339156381,2
C,F19549949(+) GATCCA/GGCTTC 1 Q/R mis15Minor allele frequency- G:0.07NA EU EA WA 490
rs351604161,2
C,F19550221(+) ACAGTG/CAACTT 1 Q/E mis15Minor allele frequency- C:0.02NA EU EA WA 498
rs130593881,2
H19163225(+) CAAGAC/TTGAGC 1 -- ng512Minor allele frequency- T:0.00EU WA 232
rs117212651,2
H19411702(+) TGACTC/ATGCTC 1 M/L mis1 ese34Minor allele frequency- A:0.00EU EA WA 420
rs44029511,2
H19473432(+) AGACAT/ATCAGC 1 N/I mis1 ese34Minor allele frequency- A:0.00EU EA WA 406
rs130592431,2
H19163157(+) ATTTTC/TTGGGA 1 -- ng512Minor allele frequency- T:0.00EU WA 232
rs119236991,2
C,F,H19270271(+) TGTAGC/TTGCAA 1 S/S syn1 ese35Minor allele frequency- T:0.06EU EA WA NA 492
rs117212681,2
C,H19411725(+) GCACTC/TCTTGC 1 L/L syn14Minor allele frequency- T:0.00EU EA WA 418
rs343704501,2
F19165245(+) GCGCCG/CCAAAA 1 P/P syn11Minor allele frequency- C:0.07NA 74
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HapMap Linkage Disequilibrium images for KCNH8 (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: 608260

(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

10 PubMed articles for KCNH8 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)
About This Section

Entrez Gene: 131096 HGNC: 18864 AceView: KCNH8.1 Ensembl:ENSG00000183960 euGenes: HUgn131096
ECgene: KCNH8 H-InvDB: KCNH8
(According to HUGE)
About This Section

  --
(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 KCNH8:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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