KCNQ5 (potassium voltage-gated channel subfamily Q member 5)

2012-11-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
Kv7.5,MRD46
FUSION GENES

Other Information

Locus ID:

NCBI: 56479
MIM: 607357
HGNC: 6299
Ensembl: ENSG00000185760

Variants:

dbSNP: 56479
ClinVar: 56479
TCGA: ENSG00000185760
COSMIC: KCNQ5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185760ENST00000342056Q9NR82
ENSG00000185760ENST00000355194F8WEA4
ENSG00000185760ENST00000355635A0A0A0MRC8
ENSG00000185760ENST00000370392Q9NR82
ENSG00000185760ENST00000370398Q9NR82
ENSG00000185760ENST00000402622A0A0A0MSD9
ENSG00000185760ENST00000403813A0A0A0MSC0
ENSG00000185760ENST00000414165A0A0A0MT07
ENSG00000185760ENST00000427928H0Y3Z0
ENSG00000185760ENST00000441538A6PVT8
ENSG00000185760ENST00000443915A6PVT7
ENSG00000185760ENST00000628967Q9NR82
ENSG00000185760ENST00000629977Q9NR82

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Cholinergic synapseKEGGhsa04725
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD25127363
PA448871celecoxibChemicalPathwayassociated22336956
PA450085irinotecanChemicalClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD25127363

References

Pubmed IDYearTitleCitations
353777962022Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.7
355839732022Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.6
360886822022Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.2
353777962022Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.7
355839732022Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.6
360886822022Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.2
318713022020Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells.3
328256372020Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors.4
318713022020Structural Determinants of Kv7.5 Potassium Channels That Confer Changes in Phosphatidylinositol 4,5-Bisphosphate (PIP(2)) Affinity and Signaling Sensitivities in Smooth Muscle Cells.3
328256372020Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors.4
293254542018Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.18
297486632018Direct neurotransmitter activation of voltage-gated potassium channels.41
300615102018Mechanisms of PKA-Dependent Potentiation of Kv7.5 Channel Activity in Human Airway Smooth Muscle Cells.10
293254542018Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.18
297486632018Direct neurotransmitter activation of voltage-gated potassium channels.41

Citation

Dessen P

KCNQ5 (potassium voltage-gated channel subfamily Q member 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53014/cancer-prone-explorer/img/favicon/apple-touch-icon.png