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

    Gene ID: 3785, updated on 20-Feb-2017
    Official Symbol
    KCNQ2provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily Q member 2provided by HGNC
    Primary source
    HGNC:HGNC:6296
    See related
    Ensembl:ENSG00000075043 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; HNSPC; KV7.2; KCNA11
    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]
    Orthologs
    Location:
    20q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (63400208..63472677, 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 subunit Neighboring gene uncharacterized LOC100130587 Neighboring gene uncharacterized LOC107985445 Neighboring gene uncharacterized LOC105372724 Neighboring gene uncharacterized LOC105372721 Neighboring gene uncharacterized LOC105372720 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 Neighboring gene uncharacterized LOC105372725

    • 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

    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
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    • 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)
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    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 
    potassium channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    voltage-gated potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    Component Evidence Code Pubs
    axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    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 2
    Names
    neuroblastoma-specific potassium channel subunit alpha KvLQT2
    potassium channel, voltage gated KQT-like subfamily Q, member 2
    voltage-gated potassium channel subunit Kv7.2

    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_009004.2 RefSeqGene

      Range
      4964..77427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004518.5NP_004509.2  potassium voltage-gated channel subfamily KQT member 2 isoform c

      See identical proteins and their annotated locations for 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, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
      Consensus CDS
      CCDS13518.1
      UniProtKB/Swiss-Prot
      O43526
      Related
      ENSP00000353668, OTTHUMP00000214671, ENST00000360480, OTTHUMT00000354354
      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:444629
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:753840
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:638728
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    2. NM_172106.2NP_742104.1  potassium voltage-gated channel subfamily KQT member 2 isoform b

      See identical proteins and their annotated locations for 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, AL121827, AL121829, DB636326, KF456987, Y15065
      Consensus CDS
      CCDS13519.1
      UniProtKB/Swiss-Prot
      O43526
      Related
      ENSP00000486706, OTTHUMP00000031681, ENST00000626839, OTTHUMT00000080351
      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:454639
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:763850
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:648738
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    3. NM_172107.3NP_742105.1  potassium voltage-gated channel subfamily KQT member 2 isoform a

      See identical proteins and their annotated locations for NP_742105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF033348, AF074247, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
      Consensus CDS
      CCDS13520.1
      UniProtKB/Swiss-Prot
      O43526
      Related
      ENSP00000352035, OTTHUMP00000031683, ENST00000359125, OTTHUMT00000080353
      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:472657
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:781868
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:666756
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    4. NM_172108.4NP_742106.1  potassium voltage-gated channel subfamily KQT member 2 isoform d

      See identical proteins and their annotated locations for 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, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
      Consensus CDS
      CCDS46629.1
      UniProtKB/Swiss-Prot
      O43526
      Related
      ENSP00000339611, OTTHUMP00000274131, ENST00000344462, OTTHUMT00000472019
      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:442626
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:750837
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:635725
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    5. NM_172109.2NP_742107.1  potassium voltage-gated channel subfamily KQT member 2 isoform e

      See identical proteins and their annotated locations for 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)
      AL121829, D82346, DB636326
      Consensus CDS
      CCDS13521.1
      UniProtKB/Swiss-Prot
      O43526
      UniProtKB/TrEMBL
      Q53Y30
      Related
      ENSP00000345523, OTTHUMP00000031686, ENST00000344425, OTTHUMT00000080356
      Conserved Domains (2) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      63400208..63472677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528811.1XP_011527113.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

      Related
      ENSP00000359244, OTTHUMP00000031687, ENST00000370224, OTTHUMT00000080357
      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:444665
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:789876
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:674764
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    2. XM_017027844.1XP_016883333.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

    3. XM_017027841.1XP_016883330.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

    4. XM_011528810.1XP_011527112.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

      Conserved Domains (5) summary
      pfam00520
      Location:119324
      Ion_trans; Ion transport protein
      pfam03520
      Location:454675
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240314
      Ion_trans_2; Ion channel
      pfam11956
      Location:799886
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:684774
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
    5. XM_017027842.1XP_016883331.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

    6. XM_017027843.1XP_016883332.1  potassium voltage-gated channel subfamily KQT member 2 isoform X5

    7. XM_017027845.1XP_016883334.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187625.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      61932446..62005065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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