KCNQ5 - potassium voltage-gated channel subfamily Q member 5 Gene

Also Known as Kv7.5; MRD46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56479

About KCNQ5

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:72,622,064-73,198,853 (from NCBI)

This gene has 14 transcripts (splice variants), 280 orthologues, 31 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 8.7), thyroid (RPKM 2.7) and 6 other tissues.

Summary

This gene is a member of the KCNQ Potassium Channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

KCNQ5 Products (5)

mRNA	Protein	Name
NM_001160130.2	NP_001153602.1	potassium voltage-gated channel subfamily KQT member 5 isoform 2
NM_001160132.2	NP_001153604.1	potassium voltage-gated channel subfamily KQT member 5 isoform 3
NM_001160133.2	NP_001153605.1	potassium voltage-gated channel subfamily KQT member 5 isoform 4
NM_001160134.2	NP_001153606.1	potassium voltage-gated channel subfamily KQT member 5 isoform 5
NM_019842.4	NP_062816.2	potassium voltage-gated channel subfamily KQT member 5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24855057	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	10787416	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	28669405	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	10787416	GOA
involved in potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	28669405	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of clathrin coat	IDA IDA: Inferred from direct assay	24855057	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10787416	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	10787416	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNQ5 Protein Structure

Ion_trans

KCNQ_channel

0
200
400
600
800
932 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily KQT member 5	KQT-like 5

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 46	MRD46 Mental Retardation, Autosomal Dominant 46 Autosomal Dominant Mental Retardation 46 Autosomal Dominant Intellectual Developmental Disorder 46 Mental Retardation, Autosomal Dominant, Type 46
Autosomal Dominant Non-Syndromic Intellectual Disability
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Neonatal Period Electroclinical Syndrome
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-123264	RL648_81	Inhibitor	99.49%	Unkown
HY-182435	CLE-030	Agonist	/	Unkown
HY-RS07177	KCNQ5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20973	Kcnq5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27490	Kcnq5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KCNQ5	VGNC	VGNC:74008
Rattus norvegicus	KCNQ5	RGD	RGD:628848
Canis familiaris	KCNQ5	VGNC	VGNC:42291
Mus musculus	KCNQ5	MGD	MGI:1924937
Bos taurus	KCNQ5	VGNC	VGNC:53795
Others	KCNQ5	NCBI