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KCNQ3 potassium voltage-gated channel subfamily Q member 3 [ Homo sapiens (human) ]

Gene ID: 3786, updated on 8-May-2016
Official Symbol
KCNQ3provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 3provided by HGNC
Primary source
HGNC:HGNC:6297
See related
Ensembl:ENSG00000184156 HPRD:09077; MIM:602232; Vega:OTTHUMG00000137472
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
EBN2; BFNC2; KV7.3
Summary
This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Orthologs
Location:
8q24
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (132120858..132480757, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133133105..133493004, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene otoconin 90 Neighboring gene HERV-H LTR-associating 1 Neighboring gene uncharacterized LOC105375764 Neighboring gene uncharacterized LOC105375765 Neighboring gene Helicobacter pylori responsive 1 (non-protein coding)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Benign familial neonatal seizures 2
MedGen: C1852581 OMIM: 121201 GeneReviews: KCNQ3-Related Disorders
Compare labs

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • 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...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ37386, FLJ38392, DKFZp686C0248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
voltage-gated potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily KQT member 3
Names
potassium channel subunit alpha KvLQT3
potassium channel, voltage gated KQT-like subfamily Q, member 3
potassium channel, voltage-gated, subfamily Q, member 3
potassium voltage-gated channel, KQT-like subfamily, member 3
voltage-gated potassium channel subunit Kv7.3

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_008854.2 RefSeqGene

    Range
    5001..364900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204824.1NP_001191753.1  potassium voltage-gated channel subfamily KQT member 3 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC131042, AF033347, AK296293, BX538233
    Consensus CDS
    CCDS56554.1
    UniProtKB/Swiss-Prot
    O43525
    Related
    ENSP00000429799, OTTHUMP00000227140, ENST00000521134, OTTHUMT00000379574
    Conserved Domains (4) summary
    pfam00520
    Location:39231
    Ion_trans; Ion transport protein
    pfam03520
    Location:328526
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:149232
    Ion_trans_2; Ion channel
    pfam11956
    Location:649747
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  2. NM_004519.3NP_004510.1  potassium voltage-gated channel subfamily KQT member 3 isoform 1

    See identical proteins and their annotated locations for NP_004510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). The 5' extent of this variant is inferred based on orthologous alignments.
    Source sequence(s)
    AC018540, AC131042, AF033347, AV728013, BX538233
    Consensus CDS
    CCDS34943.1
    UniProtKB/Swiss-Prot
    O43525
    Related
    ENSP00000373648, OTTHUMP00000174705, ENST00000388996, OTTHUMT00000268621
    Conserved Domains (4) summary
    pfam00520
    Location:159351
    Ion_trans; Ion transport protein
    pfam03520
    Location:448646
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:269352
    Ion_trans_2; Ion channel
    pfam11956
    Location:769867
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    132120858..132480757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517026.1XP_011515328.1  

    Conserved Domains (4) summary
    pfam00520
    Location:39231
    Ion_trans; Ion transport protein
    pfam03520
    Location:328526
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:149232
    Ion_trans_2; Ion channel
    pfam11956
    Location:649747
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  2. XM_006716555.2XP_006716618.1  

    Conserved Domains (4) summary
    pfam00520
    Location:31115
    Ion_trans; Ion transport protein
    pfam03520
    Location:212410
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:33116
    Ion_trans_2; Ion channel
    pfam11956
    Location:533631
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  3. XM_005250914.2XP_005250971.1  

    Conserved Domains (2) summary
    pfam03520
    Location:35231
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam11956
    Location:354452
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    133173913..133533807 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)