KCNH8 Gene
protein-coding GIFtS: 55
GCID: GC03P019165
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|
potassium voltage-gated channel, subfamily H (eag-related),...
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Aliases
for KCNH8 gene
(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 81 2 | | ELK Channel 32 3 | | Kv12.11 2 | | HElk11 | | Elk31 | | ELK2 | | Ether-A-Go-Go-Like Potassium Channel 32 3 | | Ether-A-Go-Go-Like Potassium Channel 12 | | Voltage-Gated Potassium Channel Subunit Kv12.12 3 | | Potassium Voltage-Gated Channel Subfamily H Member 82 | | ELK12 3 | | ELK33 |
Export aliases for KCNH8 gene to outside databasesPrevious GC identifers: GC03P018574 GC03P018804 GC03P019040 |
Summaries
for KCNH8 gene(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 KCNH8:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from bothfunctional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heartrate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cellvolume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming(alpha) subunit. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outwardrectifying current. Channel properties may be modulated by cAMP and subunit assembly
 summary
for KCNH8: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 KCNH8
|
Genomic Views
for KCNH8 gene
(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_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNH8 gene promoter:
AP-2alpha isoform 3 AML1a p300 NRSF form 1 AP-2alpha isoform 2 HNF-3beta NRSF form 2 Evi-1 MRF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNH8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNH8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p24.3 Ensembl cytogenetic band: 3p24.3 HGNC cytogenetic band: 3p24.3KCNH8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P019165: view genomic region
(about GC identifiers)
Start:
|
19,189,946 bp from pter |
End:
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19,577,138 bp from pter |
Size:
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387,193 bases |
Orientation:
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plus strand |
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Proteins
for KCNH8 gene
(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: 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 alphasubunits that can associate with modulating beta subunits
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q59GQ6Explore the universe of human proteins at neXtProt for KCNH8: NX_Q96L42
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96L42
KCNH8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_653234.2
ENSEMBL proteins: ENSP00000328813 ENSP00000412141 ENSP00000446294 Reactome Protein details: Q96L42
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
KCNH8 for ontologies About GeneDecksing
KCNH8 Antibody Products:
Assay Products for KCNH8: |
Protein
Domains /
Families
for KCNH8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KCNH8 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q96L42ProtoNet 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, Q96L42Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged aminoacids at every third positionSimilarity: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamilySimilarity: Contains 1 cyclic nucleotide-binding domainSimilarity: Contains 1 PAC (PAS-associated C-terminal) domainSimilarity: Contains 1 PAS (PER-ARNT-SIM) domain |
Function
for KCNH8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outwardrectifying current. Channel properties may be modulated by cAMP and subunit assembly
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH8
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH8 |
Gene Ontology (GO): 3 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:0003705 | RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity |
-- | -- | | GO:0005249 | voltage-gated potassium channel activity |
IEA | -- |
KCNH8 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for KCNH8:
|
Pathways & Interactions
for KCNH8 gene
(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 |
|---|
| 1 | Potassium Channels | | | 2 | Dopamine-DARPP32 Feedback onto cAMP Pathway | | | 3 | Transmission across Chemical Synapses | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNH8
3 
Reactome Pathways for KCNH8
KCNH8 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNH8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/41 Interacting proteins for KCNH8 (ENSP000003288134) via UniProtKB, MINT, STRING, and/or I2D (see all 41)About this table
Gene Ontology (GO): 3 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:0007268 | synaptic transmission |
TAS | -- | | GO:0043066 | negative regulation of apoptotic process |
-- | -- |
KCNH8 for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNH8 gene(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
|
KCNH8 for compounds About GeneDecksing
Compounds for KCNH8 available from Tocris Bioscience About this table
1 HMDB Compound for KCNH8 About this table
1 Novoseek chemical compound relationship for KCNH8 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| potassium |
27 |
1 |
12890647 (1) |
Search CenterWatch for drugs/clinical trials and news about KCNH8
|
Transcripts
for KCNH8 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 KCNH8 gene: NM_144633.2 Unigene Cluster for KCNH8: Potassium voltage-gated channel, subfamily H (eag-related), member 8 Hs.475656 [show with all ESTs]Unigene Representative Sequence: AY0535034 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000328405(uc003cbk.1) ENST00000452398(uc011awe.1 uc010hex.1)
ENST00000475063 ENST00000537696(uc011awf.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH8 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNH8
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KCNH8 (NM_144633) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KCNH8 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNH8 |
Additional cDNA sequence: AB209053.1 AK294417.1 AK294759.1 AK295633.1 AK309034.1 AY053503.1 5 DOTS entries: DT.426005 DT.120856306 DT.95219980 DT.75168344 DT.92011108 9 AceView cDNA sequences: BX095864 BC031226 AI187878 BE244277 AY053503 NM_144633 CD637042 CD637044 N55423
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH8 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KCNH8
|
Expression
for KCNH8 gene
(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
| KCNH8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTAAGGTC
About this image
See KCNH8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNH8
SOURCE GeneReport for Unigene cluster: Hs.475656
UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42Tissue specificity: Primarily expressed in the nervous system
SABiosciences Custom PCR Arrays for KCNH8
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH8 |
Orthologs
for KCNH8 gene
(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 KCNH8 gene from 4/19 species (see all 19) About this table
ENSEMBL Gene Tree for KCNH8 (if available)
TreeFam Gene Tree for KCNH8 (if available) |
Paralogs
for KCNH8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KCNH8 gene
- KCNH62 KCNH32 KCNH52 HCN32 HCN42 HCN22 KCNH42 CNGA22
- CNGA12 HCN12 KCNH72 KCNH22 CNGB12 CNGA42 CNGA32 CNGB32
- KCNH12
6 SIMAP similar genes for KCNH8 using alignment to 3 protein entries: KCNH8_HUMAN (see all proteins):KCNH4 KCNH2 KCNH3 KCNH1 KCNH5 KCNH6
KCNH8 for paralogs About GeneDecksing
|
Genomic Variants
for KCNH8 gene(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)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KCNH8 (19189946 - 19439946 bp, first 250kb of KCNH8)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for KCNH8
9 CNVs: 63413 79706 91222 37530 79704 79705 91223 36124 8415 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNH8 |
|
Disorders
/ Diseases
for KCNH8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KCNH8 for disorders About GeneDecksing
OMIM gene information: 608260
OMIM disorders: --
1  disease for KCNH8: About MalaCardsneuronitis
Human Genome Epidemiology (HuGE) Navigator: KCNH8 (4 documents)
Export disorders for KCNH8 gene to outside databases
|
Publications
for KCNH8 gene (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)
About This Section
|
PubMed articles for KCNH8 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with KCNH8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PubMed id 12890647)1, 2, 9 Zou A.... Wickenden A.D. (2003)
- 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)
- A novel membrane potential-sensitive fluorescent dye improves cell- based assays for ion channels. (PubMed id 11897058)1, 2 Baxter D.F.... Xie Y. (2002)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)1 Kiel D.P....Karasik D. (2007)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Functional analysis of a mouse brain Elk-type K+ channel. (PubMed id 10191308)9 Trudeau M.C....Robertson G.A. (1999)
- Divalent cations slow activation of EAG family K+ cha nnels through direct binding to S4. (PubMed id 19580749)9 Zhang X....Jegla T. (2009)
|
External Searches for KCNH8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KCNH8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNH8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNH8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KCNH8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KCNH8 gene:
Search GeneIP for patents involving KCNH8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNH8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | KCNH8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH8 |
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