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Aliases for KCNH5 Gene

Aliases for KCNH5 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 5 2 3 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 Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include obsolete 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for KCNH5 Gene

Promoters and enhancers for KCNH5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J063044 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.2 +56.1 56128 1.9 ELF3 FOXA2 SREBF2 KLF17 RARA GLIS2 SCRT2 ZNF398 REST SP1 KCNH5 RHOJ GC14M062975
GH14J063101 Promoter 1 EPDnew 655.9 +0.0 13 0.1 ATF1 TAF9B ASH1L ZBTB40 E4F1 POLR2A FOXK2 ATF7 PRDM10 CREM KCNH5 RHOJ GC14M062975
GH14J063362 Enhancer 0.7 FANTOM5 ENCODE 5.4 -260.8 -260762 1 POLR2A FEZF1 EZH2 KCNH5 PPP2R5E GPHB5 WDR89 GC14P063451
GH14J063203 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.6 -103.0 -103035 4 ELF3 FOXA2 ARID4B MZF1 RAD21 YY1 ATF7 FOS ZBTB11 ZHX2 RHOJ KCNH5 GPHB5 GC14M063214 LOC105370531
GH14J063427 Enhancer 0.3 FANTOM5 6.1 -325.7 -325747 0.2 PRDM1 KCNH5 GPHB5 PPP2R5E GC14P063451
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNH5 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • GR-beta
  • GR-alpha
  • GR
  • c-Myb
  • STAT3
  • STAT5A
  • Arnt
  • AML1a

Genomic Locations for KCNH5 Gene

Genomic Locations for KCNH5 Gene
chr14:62,699,454-63,102,037
(GRCh38/hg38)
Size:
402,584 bases
Orientation:
Minus strand
chr14:63,173,287-63,568,755
(GRCh37/hg19)
Size:
395,469 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

  • Glycosylation at Asn403
  • Ubiquitination at isoforms=785
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Voltage-gated ion channels

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

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.
GENATLAS Biochemistry:
potassium voltage-gated channel, subfamily H (eag-related), member 5

Phenotypes From GWAS Catalog for KCNH5 Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (1)
  • Mitotic spindle (1)
See all subcellular structures

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:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle IDA 22855790
GO:0023014 signal transduction by protein phosphorylation IEA --
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, Investigational Pharma Pore Blocker, Inhibition, Inhibitor, blocker 48
cyclic amp Experimental Pharma 0
LY97241 Pharma Pore Blocker 0
Chromanol 293B Pharma Antagonist, Pore Blocker IKs blocker. Also blocks ICFTR 0
Flupirtine maleate Pharma KV7 channel activator 0

(4) Tocris Compounds for KCNH5 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNH5: view

Transcripts for KCNH5 Gene

mRNA/cDNA for KCNH5 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNH5 Gene

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

Clone 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 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

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 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH5 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH5 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH5 34 33
  • 93.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH5 34 33
  • 93.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh5 33
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Kcnh5 16 34 33
  • 91.33 (n)
chicken
(Gallus gallus)
Aves KCNH5 34 33
  • 84.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH5 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh5 33
  • 81.38 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnh5b 34
  • 78 (a)
OneToMany
kcnh5a 34 33
  • 72.65 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta eag 34 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-2 34 35
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNH5: view image

Paralogs for KCNH5 Gene

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

  • KCNH5_HUMAN
  • Q86XI1_HUMAN
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 Variation AA Info Type
rs1060502866 uncertain-significance, Early infantile epileptic encephalopathy 62,708,361(-) G/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs114074278 benign, Early infantile epileptic encephalopathy 62,802,471(-) G/A/T coding_sequence_variant, synonymous_variant
rs115017019 benign, Early infantile epileptic encephalopathy 62,980,995(-) G/A coding_sequence_variant, synonymous_variant
rs115435938 benign, Early infantile epileptic encephalopathy 62,802,531(-) T/C coding_sequence_variant, synonymous_variant
rs142252600 likely-benign, Early infantile epileptic encephalopathy 62,987,093(-) A/G coding_sequence_variant, synonymous_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)

Additional Variant Information for KCNH5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCNH5 Gene

Additional Disease Information for KCNH5

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

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) Schönherr R … Heinemann SH (FEBS letters 2002) 3 4 22 58
  2. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (PMID: 23647072) Veeramah KR … Hammer MF (Epilepsia 2013) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  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 (Biological psychiatry 2010) 3 44 58

Products for KCNH5 Gene

Sources for KCNH5 Gene

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