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KCNQ5 potassium voltage-gated channel subfamily Q member 5 [ Homo sapiens (human) ]

Gene ID: 56479, updated on 11-Nov-2018

Summary

Official Symbol
KCNQ5provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 5provided by HGNC
Primary source
HGNC:HGNC:6299
See related
Ensembl:ENSG00000185760 MIM:607357; Vega:OTTHUMG00000015020
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Kv7.5; MRD46
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]
Expression
Biased expression in brain (RPKM 8.7), thyroid (RPKM 2.7) and 6 other tissues See more
Orthologs

Genomic context

See KCNQ5 in Genome Data Viewer
Location:
6q13
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (72621843..73198851)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (73331571..73908574)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta 1, catalytic subunit pseudogene Neighboring gene uncharacterized LOC112267960 Neighboring gene HORMA domain containing 1 pseudogene Neighboring gene KCNQ5 intronic transcript 1 Neighboring gene uncharacterized LOC107984120 Neighboring gene uncharacterized LOC105377855 Neighboring gene uncharacterized protein C9orf85-like Neighboring gene microRNA 4282 Neighboring gene lysine rich nucleolar protein 1 pseudogene 4 Neighboring gene phosphoglycerate mutase 1 pseudogene 10 Neighboring gene KCNQ5 antisense RNA 1 Neighboring gene RBPMS2 pseudogene 1 Neighboring gene KH domain containing 1 pseudogene 1 Neighboring gene KH domain containing 1 like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MedGen: C4539851 OMIM: 617601 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin coat IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily KQT member 5
Names
KQT-like 5
potassium channel protein
potassium channel subunit alpha KvLQT5
potassium channel, voltage gated KQT-like subfamily Q, member 5
voltage-gated potassium channel subunit Kv7.5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047170.1 RefSeqGene

    Range
    5564..582572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160130.1NP_001153602.1  potassium voltage-gated channel subfamily KQT member 5 isoform 2

    See identical proteins and their annotated locations for NP_001153602.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 4. The resulting isoform (2), also known as II, lacks an internal segment compared to isoform 4.
    Source sequence(s)
    AL365232, BC117359, BF513800, DA801374
    Consensus CDS
    CCDS55037.1
    UniProtKB/Swiss-Prot
    Q9NR82
    Related
    ENSP00000485743.1, OTTHUMP00000279376, ENST00000629977.2, OTTHUMT00000484423
    Conserved Domains (3) summary
    pfam00520
    Location:160358
    Ion_trans; Ion transport protein
    pfam03520
    Location:444631
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:274348
    Ion_trans_2; Ion channel
  2. NM_001160132.1NP_001153604.1  potassium voltage-gated channel subfamily KQT member 5 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 4. The resulting isoform (3), also known as III, lacks an internal segment compared to isoform 4.
    Source sequence(s)
    AL360236, AL365232, BF513800, FO393414
    UniProtKB/Swiss-Prot
    Q9NR82
    Related
    ENSP00000385501.3, ENST00000402622.6
    Conserved Domains (3) summary
    pfam00520
    Location:160358
    Ion_trans; Ion transport protein
    pfam03520
    Location:463650
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:274348
    Ion_trans_2; Ion channel
  3. NM_001160133.1NP_001153605.1  potassium voltage-gated channel subfamily KQT member 5 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AL360236, AL365232, BF513800, FO393414
    Consensus CDS
    CCDS55034.1
    UniProtKB/Swiss-Prot
    Q9NR82
    Related
    ENSP00000345055.2, OTTHUMP00000196167, ENST00000342056.6, OTTHUMT00000316124
    Conserved Domains (3) summary
    pfam00520
    Location:160358
    Ion_trans; Ion transport protein
    pfam03520
    Location:472659
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:274348
    Ion_trans_2; Ion channel
  4. NM_001160134.1NP_001153606.1  potassium voltage-gated channel subfamily KQT member 5 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons in the central coding region, compared to variant 4. The resulting isoform (5) lacks an internal segment, compared to isoform 4.
    Source sequence(s)
    AK299550, AL365232, BC143555, BF513800, DA801374
    Consensus CDS
    CCDS55035.1
    UniProtKB/Swiss-Prot
    Q9NR82
    Related
    ENSP00000486187.1, OTTHUMP00000279374, ENST00000628967.2, OTTHUMT00000484418
    Conserved Domains (3) summary
    pfam00520
    Location:160358
    Ion_trans; Ion transport protein
    pfam03520
    Location:416530
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:274348
    Ion_trans_2; Ion channel
  5. NM_019842.3NP_062816.2  potassium voltage-gated channel subfamily KQT member 5 isoform 1

    See identical proteins and their annotated locations for NP_062816.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region, compared to variant 4. The resulting isoform (1) lacks an internal segment, compared to isoform 4.
    Source sequence(s)
    AF202977, AL365232, BC117359, BF513800, DA801374
    Consensus CDS
    CCDS4976.1
    UniProtKB/Swiss-Prot
    Q9NR82
    Related
    ENSP00000359425.1, OTTHUMP00000016729, ENST00000370398.5, OTTHUMT00000041198
    Conserved Domains (3) summary
    pfam00520
    Location:160358
    Ion_trans; Ion transport protein
    pfam03520
    Location:453640
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:274348
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    72621843..73198851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446493.1XP_024302261.1  potassium voltage-gated channel subfamily KQT member 5 isoform X3

    Conserved Domains (1) summary
    pfam00520
    Location:126358
    Ion_trans; Ion transport protein
  2. XM_017011058.1XP_016866547.1  potassium voltage-gated channel subfamily KQT member 5 isoform X1

  3. XM_024446492.1XP_024302260.1  potassium voltage-gated channel subfamily KQT member 5 isoform X2

    Related
    ENSP00000359419.1, ENST00000370392.5
    Conserved Domains (1) summary
    pfam00520
    Location:126358
    Ion_trans; Ion transport protein
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