Display Settings:

Format

Send to:

Choose Destination

KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 [ Homo sapiens (human) ]

Gene ID: 3785, updated on 28-Nov-2014
Official Symbol
KCNQ2provided by HGNC
Official Full Name
potassium voltage-gated channel, KQT-like subfamily, member 2provided by HGNC
Primary source
HGNC:HGNC:6296
Locus tag
RP11-261N11.2
See related
Ensembl:ENSG00000075043; HPRD:03757; MIM:602235; Vega:OTTHUMG00000033049
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
EBN; BFNC; EBN1; ENB1; BFNS1; EIEE7; HNSPC; KV7.2; KCNA11; KVEBN1
Summary
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
See KCNQ2 in Epigenomics, MapViewer
Location:
20q13.3
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (63400208..63472640, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62031561..62103993, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor, nicotinic, alpha 4 (neuronal) Neighboring gene uncharacterized LOC100130587 Neighboring gene uncharacterized LOC102723788 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 Neighboring gene uncharacterized LOC102723814

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Benign familial neonatal seizures 1
MedGen: C1852587 OMIM: 121200 GeneReviews: KCNQ2-Related Disorders
Compare labs
Early infantile epileptic encephalopathy 7
MedGen: C3150986 OMIM: 613720 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-18)

ClinGen Genome Curation PagePubMed
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
axon guidance TAS
Traceable Author Statement
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
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
 
transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 2
Names
potassium voltage-gated channel subfamily KQT member 2
KQT-like 2
voltage-gated potassium channel subunit Kv7.2
neuroblastoma-specific potassium channel protein
neuroblastoma-specific potassium channel subunit alpha KvLQT2

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_009004.1 

    Range
    5001..71452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004518.4NP_004509.2  potassium voltage-gated channel subfamily KQT member 2 isoform c

    See proteins identical to NP_004509.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 3' UTR and lacks two alternate in-frame exons compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
    Source sequence(s)
    AF033348, AF074247, D82346
    Consensus CDS
    CCDS13518.1
    UniProtKB/Swiss-Prot
    O43526
    Related
    ENSP00000353668, OTTHUMP00000214671, ENST00000360480, OTTHUMT00000354354
    Conserved Domains (5) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:436636
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:739841
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam15087
    Location:327465
    DUF4551; Protein of unknown function (DUF4551)
  2. NM_172106.1NP_742104.1  potassium voltage-gated channel subfamily KQT member 2 isoform b

    See proteins identical to NP_742104.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
    Source sequence(s)
    AF074247
    Consensus CDS
    CCDS13519.1
    UniProtKB/Swiss-Prot
    O43526
    Related
    ENSP00000349789, OTTHUMP00000031681, ENST00000357249, OTTHUMT00000080351
    Conserved Domains (5) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:446646
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:749851
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam15087
    Location:327475
    DUF4551; Protein of unknown function (DUF4551)
  3. NM_172107.2NP_742105.1  potassium voltage-gated channel subfamily KQT member 2 isoform a

    See proteins identical to NP_742105.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF033348, AF074247, D82346
    Consensus CDS
    CCDS13520.1
    UniProtKB/Swiss-Prot
    O43526
    Related
    ENSP00000352035, OTTHUMP00000031683, ENST00000359125, OTTHUMT00000080353
    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:464664
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:767869
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  4. NM_172108.3NP_742106.1  potassium voltage-gated channel subfamily KQT member 2 isoform d

    See proteins identical to NP_742106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame coding segments compared to variant 1, resulting in a shorter isoform (d) compared to isoform a. The 3' UTR of this variant has not been fully characterized.
    Source sequence(s)
    AF033348, AF074247, AF110020, D82346
    Consensus CDS
    CCDS46629.1
    UniProtKB/Swiss-Prot
    O43526
    Related
    ENSP00000339611, OTTHUMP00000274131, ENST00000344462, OTTHUMT00000472019
    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:434633
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:736838
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  5. NM_172109.1NP_742107.1  potassium voltage-gated channel subfamily KQT member 2 isoform e

    See proteins identical to NP_742107.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the coding region compared to variant 1, resulting in a frameshift. It encodes isoform e, which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    D82346
    Consensus CDS
    CCDS13521.1
    UniProtKB/Swiss-Prot
    O43526
    UniProtKB/TrEMBL
    Q53Y30
    Related
    ENSP00000345523, OTTHUMP00000031686, ENST00000344425, OTTHUMT00000080356
    Conserved Domains (2) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    63400208..63472640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723791.1XP_006723854.1  

    Conserved Domains (5) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:436650
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:753855
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam15087
    Location:327465
    DUF4551; Protein of unknown function (DUF4551)
  2. XM_006723789.1XP_006723852.1  

    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:454668
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:771873
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  3. XM_006723792.1XP_006723855.1  

    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:434648
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:751853
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  4. XM_006723790.1XP_006723853.1  

    Conserved Domains (5) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:446660
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:763865
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam15087
    Location:327475
    DUF4551; Protein of unknown function (DUF4551)
  5. XM_006723788.1XP_006723851.1  

    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:464677
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:780882
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  6. XM_006723787.1XP_006723850.1  

    Conserved Domains (4) summary
    pfam00520
    Location:128312
    Ion_trans; Ion transport protein
    pfam03520
    Location:464678
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240313
    Ion_trans_2; Ion channel
    pfam11956
    Location:781883
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187625.1 

    Range
    183..33239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    61938421..62005028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    58763581..58832303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)