KCNH5

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KCNH5
Identifiers
AliasesKCNH5, EAG2, H-EAG2, Kv10.2, hEAG2, potassium voltage-gated channel subfamily H member 5
External IDsMGI: 3584508 HomoloGene: 15858 GeneCards: KCNH5
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for KCNH5
Genomic location for KCNH5
Band14q23.2Start62,699,454 bp[1]
End63,102,037 bp[1]
RNA expression pattern
PBB GE KCNH5 gnf1h06293 at fs.png

PBB GE KCNH5 gnf1h09304 at fs.png

PBB GE KCNH5 gnf1h08083 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139318
NM_172375
NM_172376

NM_172805

RefSeq (protein)

NP_647479
NP_758963

NP_766393

Location (UCSC)Chr 14: 62.7 – 63.1 MbChr 12: 74.9 – 75.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the Kv10.2 protein.[5]

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 of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms.[5]

Mutations in this gene have been linked to cases of early onset Epilepsy.(10.1111/epi.12201)

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140015 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034402 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5".

Further reading[edit]