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Aliases for KCNH5 Gene

Aliases for KCNH5 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 5 2 3 5
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 5 2 3
  • Voltage-Gated Potassium Channel Subunit Kv10.2 3 4
  • HEAG2 3 4
  • EAG2 3 4
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 5 3
  • Ether-A-Go-Go-Related Potassium Channel 2 3
  • Ether-A-Go-Go Potassium Channel 2 4
  • H-EAG2 3
  • Kv10.2 3

External Ids for KCNH5 Gene

Previous GeneCards Identifiers for KCNH5 Gene

  • GC14M060501
  • GC14M056967
  • GC14M061163
  • GC14M062243
  • GC14M063173
  • GC14M043339

Summaries for KCNH5 Gene

Entrez Gene Summary for KCNH5 Gene

  • This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for KCNH5 Gene

KCNH5 (Potassium Voltage-Gated Channel Subfamily H Member 5) is a Protein Coding gene. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include signal transducer activity and ion channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for KCNH5 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH5 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 KCNH5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH5 Gene

Genomics for KCNH5 Gene

Regulatory Elements for KCNH5 Gene

Enhancers for KCNH5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G063362 0.7 FANTOM5 ENCODE 5.4 -260.8 -260763 1.0 FEZF1 EZH2 KCNH5 PPP2R5E GPHB5 WDR89 GC14P063451
GH14G063427 0.4 FANTOM5 6.1 -325.7 -325748 0.2 PRDM1 KCNH5 GPHB5 PPP2R5E GC14P063451
GH14G063203 1.5 FANTOM5 ENCODE dbSUPER 1.6 -103.0 -103035 4.0 FOXA2 ARID4B YY1 GATA2 FOS ZHX2 MIER2 TBX21 ZNF491 ZNF518A RHOJ KCNH5 GPHB5 GC14M063214
GH14G063044 1.1 Ensembl ENCODE 0.2 +56.1 56128 1.9 ELF3 FOXA2 PKNOX1 SREBF2 KLF17 FEZF1 RARA GLIS2 SCRT2 IKZF2 RHOJ GC14M062975 KCNH5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNH5 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNH5 Gene

Chromosome:
14
Start:
62,699,454 bp from pter
End:
63,102,037 bp from pter
Size:
402,584 bases
Orientation:
Minus strand

Genomic View for KCNH5 Gene

Genes around KCNH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH5 Gene

Proteins for KCNH5 Gene

  • Protein details for KCNH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCM2-KCNH5_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 5
    Protein Accession:
    Q8NCM2
    Secondary Accessions:
    • C9JP98

    Protein attributes for KCNH5 Gene

    Size:
    988 amino acids
    Molecular mass:
    111877 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 KCNH1/EAG (Probable).
    SequenceCaution:
    • Sequence=BAC11016.1; Type=Erroneous termination; Positions=436; Note=Translated as Gly.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNH5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH5 Gene

Post-translational modifications for KCNH5 Gene

  • Ubiquitination at posLast=785785
  • Glycosylation at posLast=403403
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH5 Gene

No data available for DME Specific Peptides for KCNH5 Gene

Domains & Families for KCNH5 Gene

Gene Families for KCNH5 Gene

Suggested Antigen Peptide Sequences for KCNH5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCM2

UniProtKB/Swiss-Prot:

KCNH5_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. Kv10.2/KCNH5 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.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily.
genes like me logo Genes that share domains with KCNH5: view

Function for KCNH5 Gene

Molecular function for KCNH5 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel, subfamily H (eag-related), member 5
UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.

Gene Ontology (GO) - Molecular Function for KCNH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNH5: view
genes like me logo Genes that share phenotypes with KCNH5: view

Animal Models for KCNH5 Gene

MGI Knock Outs for KCNH5:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH5

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNH5 Gene

Localization for KCNH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNH5 gene
Compartment Confidence
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KCNH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22855790
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0009986 cell surface IDA 22855790
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNH5: view

Pathways & Interactions for KCNH5 Gene

genes like me logo Genes that share pathways with KCNH5: view

Pathways by source for KCNH5 Gene

1 Qiagen pathway for KCNH5 Gene

Gene Ontology (GO) - Biological Process for KCNH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle IDA 22855790
genes like me logo Genes that share ontologies with KCNH5: view

No data available for SIGNOR curated interactions for KCNH5 Gene

Drugs & Compounds for KCNH5 Gene

(8) Drugs for KCNH5 Gene - From: DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinidine Approved Pharma Pore Blocker, blocker 45
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 69
cyclic amp Experimental Pharma 0
LY97241 Pharma Pore Blocker 0
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0

(1) Additional Compounds for KCNH5 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNH5 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNH5: view

Transcripts for KCNH5 Gene

mRNA/cDNA for KCNH5 Gene

Unigene Clusters for KCNH5 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - -
SP3: - - -
SP4: - -

Relevant External Links for KCNH5 Gene

GeneLoc Exon Structure for
KCNH5
ECgene alternative splicing isoforms for
KCNH5

Expression for KCNH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.6), Brain - Cortex (x10.0), Brain - Anterior cingulate cortex (BA24) (x6.2), Brain - Hypothalamus (x4.4), and Brain - Amygdala (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH5 Gene



Protein tissue co-expression partners for KCNH5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNH5 Gene:

KCNH5

SOURCE GeneReport for Unigene cluster for KCNH5 Gene:

Hs.27043

mRNA Expression by UniProt/SwissProt for KCNH5 Gene:

Q8NCM2-KCNH5_HUMAN
Tissue specificity: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low levels in kidney.

Evidence on tissue expression from TISSUES for KCNH5 Gene

  • Nervous system(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with KCNH5: view

Primer Products

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNH5 Gene

Orthologs for KCNH5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNH5 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH5 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH5 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH5 34 35
  • 93.83 (n)
cow
(Bos Taurus)
Mammalia KCNH5 34 35
  • 93.69 (n)
rat
(Rattus norvegicus)
Mammalia Kcnh5 34
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Kcnh5 34 16 35
  • 91.33 (n)
chicken
(Gallus gallus)
Aves KCNH5 34 35
  • 84.95 (n)
lizard
(Anolis carolinensis)
Reptilia KCNH5 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh5 34
  • 81.38 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnh5b 35
  • 78 (a)
OneToMany
kcnh5a 34 35
  • 72.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta eag 36 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-2 36 35
  • 57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
Species where no ortholog for KCNH5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNH5 Gene

ENSEMBL:
Gene Tree for KCNH5 (if available)
TreeFam:
Gene Tree for KCNH5 (if available)

Paralogs for KCNH5 Gene

(7) SIMAP similar genes for KCNH5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNH5: view

Variants for KCNH5 Gene

Sequence variations from dbSNP and Humsavar for KCNH5 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs374202650 Uncertain significance 62,981,273(+) AAAGA(A/C/G)AGAAA intron-variant
rs587777164 Uncertain significance 62,950,522(+) AGAGA(C/T)GCACC reference, missense
rs753525158 Uncertain significance 62,707,585(+) TATCT(C/G/T)GGGGG reference, missense, utr-variant-3-prime
rs36103415 Benign 63,006,482(+) GGGGG(-/A)AAAAA intron-variant
rs1000002596 -- 62,980,806(+) GAATC(A/C)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH5 Gene

Variant ID Type Subtype PubMed ID
dgv137n21 CNV gain 19592680
esv1128942 CNV insertion 17803354
esv1264722 CNV insertion 17803354
esv2497499 CNV insertion 19546169
esv275351 CNV loss 21479260
esv3305971 CNV mobile element insertion 20981092
esv3327391 CNV insertion 20981092
esv3378259 CNV insertion 20981092
esv3399046 CNV insertion 20981092
esv3567910 CNV gain 25503493
esv3634715 CNV loss 21293372
nsv1042953 CNV gain 25217958
nsv1120101 OTHER inversion 24896259
nsv1131147 CNV deletion 24896259
nsv1160194 CNV duplication 26073780
nsv478696 CNV novel sequence insertion 20440878
nsv507756 OTHER sequence alteration 20534489
nsv527675 CNV gain 19592680
nsv983834 CNV duplication 23825009

Variation tolerance for KCNH5 Gene

Residual Variation Intolerance Score: 3.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.39; 85.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH5 Gene

Human Gene Mutation Database (HGMD)
KCNH5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH5 Gene

Disorders for KCNH5 Gene

Relevant External Links for KCNH5

Genetic Association Database (GAD)
KCNH5
Human Genome Epidemiology (HuGE) Navigator
KCNH5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH5

No disorders were found for KCNH5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNH5 Gene

Publications for KCNH5 Gene

  1. Functional distinction of human EAG1 and EAG2 potassium channels. (PMID: 11943152) Schoenherr R. … Heinemann S.H. (FEBS Lett. 2002) 3 4 22 64
  2. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (PMID: 23647072) Veeramah K.R. … Hammer M.F. (Epilepsia 2013) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  5. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M. … Iwata N. (Biol. Psychiatry 2010) 3 46 64

Products for KCNH5 Gene

Sources for KCNH5 Gene

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