1. Gene
  2. KCNQ5 - potassium voltage-gated channel subfamily Q member 5 Gene

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

Homo sapiens

Also known as Kv7.5; MRD46

Gene ID: 56479 | Gene type: protein coding

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

KCNQ5 Protein Structure

Ion_trans

Ion_trans: Ion transport protein (162 - 345)

KCNQ_channel

KCNQ_channel: KCNQ voltage-gated potassium channel (445 - 647)

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  • 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

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