Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNH7 Gene

Aliases for KCNH7 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 7 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 7 3 5
  • Ether-A-Go-Go-Related Gene Potassium Channel 3 3 4
  • Voltage-Gated Potassium Channel Subunit Kv11.3 3 4
  • Ether-A-Go-Go-Related Protein 3 3 4
  • Eag-Related Protein 3 3 4
  • Erg-3 3 4
  • ERG3 3 4
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 7 2
  • Potassium Channel Subunit HERG-3 3
  • Kv11.3 3
  • HERG-3 4
  • HERG3 3

External Ids for KCNH7 Gene

Previous GeneCards Identifiers for KCNH7 Gene

  • GC02M161281
  • GC02M161756
  • GC02M163191
  • GC02M163430
  • GC02M163053
  • GC02M162936
  • GC02M155110

Summaries for KCNH7 Gene

Entrez Gene Summary for KCNH7 Gene

  • 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, Jul 2008]

GeneCards Summary for KCNH7 Gene

KCNH7 (Potassium Voltage-Gated Channel Subfamily H Member 7) is a Protein Coding gene. Diseases associated with KCNH7 include lathosterolosis. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for KCNH7 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH7 Gene

  • 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNH7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH7 Gene

Genomics for KCNH7 Gene

Regulatory Elements for KCNH7 Gene

Genomic Location for KCNH7 Gene

Chromosome:
2
Start:
162,371,407 bp from pter
End:
162,838,747 bp from pter
Size:
467,341 bases
Orientation:
Minus strand

Genomic View for KCNH7 Gene

Genes around KCNH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH7 Gene

Proteins for KCNH7 Gene

  • Protein details for KCNH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NS40-KCNH7_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 7
    Protein Accession:
    Q9NS40
    Secondary Accessions:
    • Q53QU4
    • Q53TB7
    • Q53TP9
    • Q8IV15

    Protein attributes for KCNH7 Gene

    Size:
    1196 amino acids
    Molecular mass:
    135000 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAD01946.1; Type=Frameshift; Positions=792, 795; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNH7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH7 Gene

Proteomics data for KCNH7 Gene at MOPED

Post-translational modifications for KCNH7 Gene

  • Glycosylation at Asn 600
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH7 Gene

No data available for DME Specific Peptides for KCNH7 Gene

Domains & Families for KCNH7 Gene

Gene Families for KCNH7 Gene

Suggested Antigen Peptide Sequences for KCNH7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NS40

UniProtKB/Swiss-Prot:

KCNH7_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Contains 1 cyclic nucleotide-binding domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily.
genes like me logo Genes that share domains with KCNH7: view

Function for KCNH7 Gene

Molecular function for KCNH7 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.
genes like me logo Genes that share phenotypes with KCNH7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH7

miRNA for KCNH7 Gene

miRTarBase miRNAs that target KCNH7

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNH7 Gene

Localization for KCNH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH7 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH7 Gene COMPARTMENTS Subcellular localization image for KCNH7 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNH7: view

Pathways & Interactions for KCNH7 Gene

genes like me logo Genes that share pathways with KCNH7: view

Pathways by source for KCNH7 Gene

1 Qiagen pathway for KCNH7 Gene

Gene Ontology (GO) - Biological Process for KCNH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0042391 regulation of membrane potential IBA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNH7: view

No data available for SIGNOR curated interactions for KCNH7 Gene

Drugs & Compounds for KCNH7 Gene

(7) Drugs for KCNH7 Gene - From: Tocris, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxazosin Approved Pharma Target, inhibitor 54
Ibutilide Approved Pharma Target, inhibitor 5
Miconazole Approved, Investigational Pharma Antagonist, Pore Blocker, Target, inhibitor 3026
Prazosin Approved Pharma Inverse agonist, Antagonist, Target, inhibitor 51
Terazosin Approved Pharma Target, inhibitor 20

(4) Additional Compounds for KCNH7 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNH7 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNH7: view

Transcripts for KCNH7 Gene

Unigene Clusters for KCNH7 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 7:
Representative Sequences:

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

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

Relevant External Links for KCNH7 Gene

GeneLoc Exon Structure for
KCNH7
ECgene alternative splicing isoforms for
KCNH7

Expression for KCNH7 Gene

mRNA expression in normal human tissues for KCNH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH7 Gene

This gene is overexpressed in Whole Blood (x19.4) and Testis (x5.0).

Protein differential expression in normal tissues from HIPED for KCNH7 Gene

This gene is overexpressed in Plasma (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH7 Gene



SOURCE GeneReport for Unigene cluster for KCNH7 Gene Hs.657413

mRNA Expression by UniProt/SwissProt for KCNH7 Gene

Q9NS40-KCNH7_HUMAN
Tissue specificity: Expressed in prolactin-secreting adenomas.
genes like me logo Genes that share expression patterns with KCNH7: view

Protein tissue co-expression partners for KCNH7 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNH7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCNH7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC534542 35
  • 92.86 (n)
  • 95.4 (a)
KCNH7 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH7 35
  • 93.34 (n)
  • 95.82 (a)
KCNH7 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh7 35
  • 88.92 (n)
  • 94.79 (a)
Kcnh7 16
Kcnh7 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH7 35
  • 99.72 (n)
  • 99.83 (a)
KCNH7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh7 35
  • 88.83 (n)
  • 94.71 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNH7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH7 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNH7 35
  • 80.38 (n)
  • 86.87 (a)
KCNH7 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH7 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh7 35
  • 74.24 (n)
  • 80.53 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-240h6.1 35
  • 66.7 (n)
  • 71.7 (a)
kcnh1a 36
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007709 35
  • 61.86 (n)
  • 66.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta sei 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-103 35
  • 58.59 (n)
  • 61.57 (a)
unc-103 36
  • 47 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons KAT1 35
  • 41.06 (n)
  • 27.15 (a)
rice
(Oryza sativa)
Liliopsida Os02g0245800 35
  • 41.35 (n)
  • 27.37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12709 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for KCNH7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNH7 Gene

ENSEMBL:
Gene Tree for KCNH7 (if available)
TreeFam:
Gene Tree for KCNH7 (if available)

Paralogs for KCNH7 Gene

(4) SIMAP similar genes for KCNH7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNH7: view

Variants for KCNH7 Gene

Sequence variations from dbSNP and Humsavar for KCNH7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs6757850 - 162,384,777(+) CTATT(C/G)CTGGA reference, missense
rs601895 -- 162,806,975(-) GGATT(C/T)CCTTA intron-variant
rs618100 -- 162,820,970(-) GGGCT(A/G)CTAGC intron-variant
rs305665 -- 162,807,350(-) AAGTG(A/T)TTCTC intron-variant
rs305666 -- 162,805,930(-) ttgcc(A/G)taaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH7 Gene

Variant ID Type Subtype PubMed ID
dgv4353n71 CNV Loss 21882294
nsv875354 CNV Loss 21882294
esv1006625 CNV Deletion 20482838
nsv875357 CNV Loss 21882294
nsv3011 CNV Insertion 18451855
esv2596964 CNV Deletion 19546169
nsv875358 CNV Gain 21882294
esv2667624 CNV Deletion 23128226
esv270053 CNV Insertion 20981092
esv273848 CNV Insertion 20981092
esv2130433 CNV Deletion 18987734
esv2721052 CNV Deletion 23290073
esv274108 CNV Insertion 20981092
esv2044759 CNV Deletion 18987734
esv2721053 CNV Deletion 23290073
esv3985 CNV Deletion 18987735
nsv214757 CNV Loss 16902084
esv9501 CNV Loss 19470904
esv2558699 CNV Insertion 19546169
esv273010 CNV Insertion 20981092
esv270107 CNV Insertion 20981092
nsv213705 CNV Insertion 16902084

Variation tolerance for KCNH7 Gene

Residual Variation Intolerance Score: 3.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH7 Gene

HapMap Linkage Disequilibrium report
KCNH7
Human Gene Mutation Database (HGMD)
KCNH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH7 Gene

Disorders for KCNH7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNH7 Gene - From: OMIM

Disorder Aliases PubMed IDs
lathosterolosis
  • sc5d deficiency
- elite association - COSMIC cancer census association via MalaCards
Search KCNH7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNH7

Genetic Association Database (GAD)
KCNH7
Human Genome Epidemiology (HuGE) Navigator
KCNH7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH7
genes like me logo Genes that share disorders with KCNH7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNH7 Gene

Publications for KCNH7 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 48 67
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  3. Blockade of HERG cardiac K+ current by antifungal drug miconazole. (PMID: 15778703) Kikuchi K. … Nakashima Y. (Br. J. Pharmacol. 2005) 25 26
  4. Ibutilide--recent molecular insights and accumulating evidence for use in atrial flutter and fibrillation. (PMID: 15926871) Doggrell S.A. … Hancox J.C. (Expert Opin Investig Drugs 2005) 25 26
  5. Inhibition of human ether-a-go-go-related gene potassium channels by alpha 1-adrenoceptor antagonists prazosin, doxazosin, and terazosin. (PMID: 15098086) Thomas D. … Karle C.A. (Naunyn Schmiedebergs Arch. Pharmacol. 2004) 25 26

Products for KCNH7 Gene

Sources for KCNH7 Gene

Back to Top

Content