KCNH5

KCNH5

Identifiers

KCNH5, EAG2, H-EAG2, Kv10.2, hEAG2, potassium voltage-gated channel subfamily H member 5

External IDs

OMIM: 605716 MGI: 3584508 HomoloGene: 15858 GeneCards: KCNH5

Gene location (Mouse)

Chr.	Chromosome 12 (mouse)^[1]

Band	12\|12 C3	Start	74,943,994 bp^[1]
Band	12\|12 C3	End	75,224,106 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

secondary oocyte

retinal pigment epithelium

prefrontal cortex

Brodmann area 9

superior frontal gyrus

Brodmann area 46

Brodmann area 23

postcentral gyrus

hypothalamus

corpus callosum

Top expressed in

superior frontal gyrus

visual cortex

inferior colliculus

piriform cortex

primary motor cortex

habenula

secondary oocyte

prefrontal cortex

facial motor nucleus

olfactory bulb

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	potassium channel activity voltage-gated ion channel activity calmodulin binding ion channel activity voltage-gated potassium channel activity phosphorelay sensor kinase activity transmembrane transporter binding protein heterodimerization activity
Cellular component	integral component of membrane membrane plasma membrane intracellular anatomical structure cell surface integral component of plasma membrane
Biological process	regulation of G2/M transition of mitotic cell cycle signal transduction regulation of membrane potential regulation of ion transmembrane transport ion transport potassium ion transport transmembrane transport potassium ion transmembrane transport phosphorelay signal transduction system
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


27133


238271

Ensembl


n/a


ENSMUSG00000034402

UniProt


Q8NCM2


Q920E3

RefSeq (mRNA)


NM_139318 NM_172375 NM_172376


NM_172805

RefSeq (protein)


NP_647479 NP_758963


NP_766393

Location (UCSC)

n/a

Chr 12: 74.94 – 75.22 Mb

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the K_v10.2 protein.^[4]

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.^[4]

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

References

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034402 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5".

Gutman GA, Chandy KG, Grissmer S, et al. (2006). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
Occhiodoro T, Bernheim L, Liu JH, et al. (1998). "Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion". FEBS Lett. 434 (1–2): 177–82. doi:10.1016/S0014-5793(98)00973-9. PMID 9738473.
Volorio S, Simon G, Repetto M, et al. (1999). "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Seq. 9 (5–6): 307–15. doi:10.3109/10425179809008469. PMID 10524757.
Schönherr R, Gessner G, Löber K, Heinemann SH (2002). "Functional distinction of human EAG1 and EAG2 potassium channels". FEBS Lett. 514 (2–3): 204–8. doi:10.1016/S0014-5793(02)02365-7. PMID 11943152.
Ju M, Wray D (2002). "Molecular identification and characterisation of the human eag2 potassium channel". FEBS Lett. 524 (1–3): 204–10. doi:10.1016/S0014-5793(02)03055-7. PMID 12135768.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 3 March 2023, at 20:20

From Wikipedia, the free encyclopedia

References

Further reading