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KCNH7 Gene

protein-coding   GIFtS: 53

GC02M162936
potassium voltage-gated channel, subfamily H (eag-related), member 7
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
ERG3 2, 3, 5
HERG-3 3
HERG3 1, 2, 5
Kv11.3 1, 2, 5
MGC45986 2
erg3 1
Descriptions
Eag-related protein 3 3
Ether-a-go-go-related gene potassium channel 3 3
Ether-a-go-go-related protein 3 3
Voltage-gated potassium channel subunit Kv11.3 3
eag related protein 3 2
ether-a-go-go related gene potassium channel 3 2
potassium channel subunit HERG-3 2
potassium voltage-gated channel, subfamily H (eag-related),
member 7 2
potassium voltage-gated channel, subfamily H, member 7 2
External Ids
HGNC: 188631
Entrez Gene: 901342
UniProtKB: Q9NS403
Ensembl: ENSG000001846117
Search outside databases for aliases for KCNH7 gene

Previous GC identifers: GC02M161281 GC02M161756 GC02M163191 GC02M163430 GC02M163053

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KCNH7:
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. There are at least two alternatively spliced transcript variants derived from this gene
and encoding distinct isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. 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 KCNH7 gene  

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.3

KCNH7 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 2         GeneLoc Exon Structure

GeneLoc location for GC02M162936:     (about GC identifiers)

Start:
162,936,163 bp from pter
End:
163,403,486 bp from pter
Size:
467,324 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(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: KCNH7_HUMAN, Q9NS40 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 7  
Size: 1196 amino acids; 135000 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
KCNH2/ERG1 and KCNH6/ERG2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAD01946.1; Type=Frameshift; Positions=792, 795;
Secondary accessions: Q53QU4 Q53TB7 Q53TP9 Q8IV15
Alternative splicing: 2 isoforms:  Q9NS40-1   Q9NS40-2   

REFSEQ proteins (2 alternative transcripts): 
NP_150375.2  NP_775185.1  


ENSEMBL proteins: 
ENSP00000331727 ENSP00000376488 ENSP00000333781 


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
Recombinant Proteins from Abcam (KCNH7)
Human Recombinant Proteins from Abnova (KCNH7)
                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 KCNH7: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for KCNH7
Browse R&D Systems for Antibodies
Antibodies from Abcam (KCNH7), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for KCNH7

Assays for KCNH7: 
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

5/8 InterPro domains/families (see all 8 ):
 IPR018488 cNMP_bd_CS
 IPR005821 Ion_trans
 IPR003967 K_chnl_volt-dep_ERG
 IPR000595 cNMP_bd
 IPR001610 PAC


   GeneDecks  KCNH7 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9NS40

ProtoNet protein and cluster: Q9NS40

5 Blocks protein families:
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: KCNH7_HUMAN, Q9NS40
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 (KCNH7)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH7)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_173162

              Applied Biosystems Silencer® siRNAs for KCNH7

              Sigma-Aldrich siRNA and siRNA Panels for KCNH7  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH7  
                     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 clones in CMV expression vector (see all 2): NM_033272
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_033272
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_033272 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_033272

UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may
be modulated by cAMP and subunit assembly

1 MGI phenotypic allele for Kcnh7 (no phenotypes)


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

GO IDQualified GO termEvidencePubMed IDs
GO:0004871 signal transducer activity IEA--
GO:0005244 voltage-gated ion channel activity IEA--
GO:0005249 voltage-gated potassium channel activity IEA--
GO:0005515 protein binding IPI17474147
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


1 Millipore Pathway for KCNH7
  inward current

   GeneDecks  KCNH7 for the pathways selected above  
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4 Interacting proteins for KCNH7 (ENSP000003317273 Q9NS401) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
GRB2P629931EBI-1759868, EBI-401755
IFIH1ENSP000002636423STRING (score=.748)
ERGENSP000002883193STRING (score=.74)
KCNQ2ENSP000003592443STRING (score=.719)
About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006355 regulation of transcription, DNA-dependent IEA--
GO:0006811 ion transport IEA--
GO:0006813 potassium ion transport IEA--
GO:0007165 signal transduction 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

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

Compounds for KCNH7 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]
E-4031 dihydrochlorideHERG channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
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 (KCNH7)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KCNH7)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_173162

              Sigma-Aldrich siRNA and siRNA Panels for KCNH7  
                     Sigma-Aldrich shRNA Panels and shRNA for KCNH7  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_033272  NM_173162  

REFSEQ mRNAs for KCNH7 gene (2 alternative transcripts): 

NM_033272.2   NM_173162.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_033272  NM_173162  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_033272
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_033272
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_033272 

Additional cDNA sequence: 

AF032897.1 AK098545.1 BC035815.1 

4 DOTS entries:

DT.40110642  DT.75112197  DT.40120858  DT.102834918 

24/35 AceView cDNA sequences (see all 35 ):

NM_173162 CD634938 CD634945 BC035815 CD634935 AK098545 AA496138 CD634932 
NM_033272 AF032897 CD634943 CD634930 CD634941 CD634936 BG200964 AA496139 
CD634953 CD634939 BG617817 CD634928 U48352 CD634933 CD634952 CD634951 

highest scoring ESTs for KCNH7:

AF032897 BC035815 BM928062 AA496138 AK098545 BG617817 CD634928 CD634929 CD634930 CD634932 

Unigene Cluster for KCNH7:

Potassium voltage-gated channel, subfamily H (eag-related), member 7
Hs.657413  [show with all ESTs]
Unigene Representative Sequence: NM_033272


GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH7

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

About this scheme

ECgene alternative splicing isoforms for KCNH7

3 Ensembl transcripts including schematic representations:
ENST00000332142  ENST00000392728  ENST00000328032  
(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

KCNH7 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KCNH7

1 / 2 / 3

3 probe-sets matching KCNH7 gene


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

224099_at2, 3 U133-B 1 1.00 1.00 -- -- AF032897 0.80 1.00 0.91 1

224099_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1555316_a_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: GTATGTATGT

SOURCE GeneReport for Unigene cluster: Hs.657413

UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
Tissue specificity: Expressed in prolactin-secreting adenomas

(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 KCNH7 gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
KCNH71   -- potassium voltage-gated channel, subfamily H (eag-related), more 93.34(n)
95.82(a)
478768  XM_535934.2  XP_535934.2 
chimpanzee
(Pan troglodytes)
KCNH71   -- potassium voltage-gated channel, subfamily H (eag-related), more 99.72(n)
99.83(a)
470573  XM_525954.2  XP_525954.2 
cow
(Bos taurus)
KCNH71   -- potassium voltage-gated channel, subfamily H (eag-related), more 92.77(n)
95.05(a)
534542  XM_614343.3  XP_614343.3 
rat
(Rattus norvegicus)
Kcnh71   -- potassium voltage-gated channel, subfamily H (eag-related), more 88.83(n)
94.71(a)
170739  NM_131912.1  NP_571987.1 
mouse
(Mus musculus)
Kcnh71, 5 25
potassium voltage-gated channel, subfamily H (eag-related), more1, 5 88.92(n)1
94.79(a)1
1707381  NM_133207.21  NP_573470.21 
 AJ2916085  AK0340035  (see all 11)
About this table        Species with no ortholog for KCNH7

ENSEMBL Gene Tree for KCNH7
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KCNH7 gene
KCNH62  KCNH22  

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


10/2091 NCBI SNPs in KCNH7 are shown (see all 2091 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 741)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 2 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs22412401,2
A,C,F,H162987571(+) AAATAT/CAGAAA 2 -- ng51 int14Minor allele frequency- C:0.04EU EA WA 418
--
rs67578501,2
C,F,H162949533(+) CTATTC/GCTGGA 1 G/A mis1 ese34Minor allele frequency- G:0.09EU EA WA 406
rs124705031,2
C,F,H163405297(+) GAAGAC/AGTTCC 2 -- ng318Minor allele frequency- A:0.39EU EA WA 838
rs75661671,2
C,F,H163405124(+) AGGGCC/TGAGAA 2 -- ng314Minor allele frequency- T:0.03EU EA WA 410
rs124785651,2
C,F163405477(+) AATATG/ATAAGT 2 -- ng313Minor allele frequency- A:0.39NA 140
rs124691781,2
C,H162987505(+) ATTTCC/TCCTTG 2 -- int1 ng514Minor allele frequency- T:0.00EU EA WA 418
--
rs168474671,2
F163405109(+) AGAGTG/AGAACT 2 -- ng313Minor allele frequency- A:0.38NA 142
rs177839771,2
C,F,H162959233(+) CGTAGG/AAGATC 1 L/L syn1 ese37Minor allele frequency- A:0.01NA EU EA WA 558
rs168466651,2
F,H162965195(+) TTTAGG/TACCTG 1 V/V syn1 ese37Minor allele frequency- T:0.04NA EU EA WA 560
--
rs168466901,2
F163000227(+) AATCAG/AGGCAA 2 L/L syn13Minor allele frequency- A:0.03NA 140
About this table

HapMap Linkage Disequilibrium images for KCNH7 (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: 608169

Human Genome Epidemiology Navigator: KCNH7 (2 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)
About This Section

10/16 PubMed articles for KCNH7 gene (see all 16 ):
(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: 90134 HGNC: 18863 AceView: KCNH7 Ensembl:ENSG00000184611 euGenes: HUgn90134
ECgene: KCNH7 H-InvDB: KCNH7
(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 KCNH7:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
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 Predesigned and custom siRNAs for KCNH7 Antibodies for KCNH7
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 Search Novus for antibodies for KCNH7

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