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

    Gene ID: 3785, updated on 16-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:6296
    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; DEE7; 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]
    Expression
    Biased expression in brain (RPKM 15.5), adrenal (RPKM 2.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63400208..63472655, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65207872..65283534, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62031561..62104008, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 4 subunit Neighboring gene uncharacterized LOC100130587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61992809-61993442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62006107-62006606 Neighboring gene uncharacterized LOC124904953 Neighboring gene Sharpr-MPRA regulatory region 8221 Neighboring gene Sharpr-MPRA regulatory region 785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62013199-62013883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62025225-62025986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62036487-62037438 Neighboring gene Sharpr-MPRA regulatory region 327 Neighboring gene uncharacterized LOC105372724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62048909-62049556 Neighboring gene uncharacterized LOC105372721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62085825-62086688 Neighboring gene KCNQ2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62086689-62087552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62087803-62088726 Neighboring gene MPRA-validated peak4316 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62100374-62101106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62101107-62101837 Neighboring gene MPRA-validated peak4318 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62109338-62110150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62110151-62110962 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62127057-62127852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62129445-62130240 Neighboring gene uncharacterized LOC124904955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62130501-62131070 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133167-62133672 Neighboring gene uncharacterized LOC105372725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133673-62134178

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey. Cossu A, et al. Epilepsy Behav, 2023 May. PMID 36989566
    2. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Chokvithaya S, et al. Sci Rep, 2023 Feb 27. PMID 36849527, Free PMC Article
    3. A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant. Liu HF, et al. Mol Med Rep, 2022 Sep. PMID 35856407, Free PMC Article
    4. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. Miceli F, et al. EBioMedicine, 2022 Jul. PMID 35780567, Free PMC Article
    5. Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels. Edmond MA, et al. Elife, 2022 Jun 1. PMID 35642783, Free PMC Article

    See all (174) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
      Title: Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
    2. Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
      Title: Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
    3. Familial KCNQ2 mutation: a psychiatric perspective.
      Title: Familial KCNQ2 mutation: a psychiatric perspective.
    4. Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.
      Title: Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.
    5. Ligand activation mechanisms of human KCNQ2 channel.
      Title: Ligand activation mechanisms of human KCNQ2 channel.
    6. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
      Title: Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
    7. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
      Title: Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
    8. A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to earlyonset epileptic encephalopathy in a female infant.
      Title: A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
    9. Adult phenotype of KCNQ2 encephalopathy.
      Title: Adult phenotype of KCNQ2 encephalopathy.
    10. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
      Title: KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
    Submit: New GeneRIF Correction See all GeneRIFs (136)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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
      4986..77433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382235.1 → NP_001369164.1  potassium voltage-gated channel subfamily KQT member 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL121827, AL121829, AL353658, KF456987
      UniProtKB/TrEMBL
      A0A9L9PXL0, Q4VXP6
      Related
      ENSP00000516702.1, ENST00000706989.1
      Conserved Domains (4) summary
      pfam00520
      Location:92 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:448 → 669
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam11956
      Location:786 → 886
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:684 → 774
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    2. NM_004518.6 → NP_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/TrEMBL
      A0A0G2JH35
      Related
      ENSP00000353668.3, ENST00000360480.7
      Conserved Domains (5) summary
      pfam00520
      Location:119 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:444 → 629
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240 → 314
      Ion_trans_2; Ion channel
      pfam11956
      Location:753 → 840
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:638 → 728
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    3. NM_172106.3 → NP_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/TrEMBL
      A0A0G2JH35
      Related
      ENSP00000486706.1, ENST00000626839.2
      Conserved Domains (5) summary
      pfam00520
      Location:119 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:454 → 639
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240 → 314
      Ion_trans_2; Ion channel
      pfam11956
      Location:763 → 850
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:648 → 738
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    4. NM_172107.4 → NP_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, O43796, O75580, O95845, Q4VXP4, Q4VXR6, Q5VYT8, Q96J59, Q99454
      UniProtKB/TrEMBL
      A0A0G2JH35
      Related
      ENSP00000352035.2, ENST00000359125.7
      Conserved Domains (5) summary
      pfam00520
      Location:119 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:472 → 657
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240 → 314
      Ion_trans_2; Ion channel
      pfam11956
      Location:781 → 868
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:666 → 756
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    5. NM_172108.5 → NP_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/TrEMBL
      A0A0G2JH35
      Related
      ENSP00000339611.4, ENST00000344462.8
      Conserved Domains (5) summary
      pfam00520
      Location:119 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:442 → 626
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240 → 314
      Ion_trans_2; Ion channel
      pfam11956
      Location:750 → 837
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:635 → 725
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    6. NM_172109.3 → NP_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, AL353658, D82346, DB636326
      Consensus CDS
      CCDS13521.1
      UniProtKB/TrEMBL
      B4DEP4, Q53Y30
      Related
      ENSP00000345523.5, ENST00000344425.8
      Conserved Domains (1) summary
      pfam00520
      Location:92 → 324
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63400208..63472655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440145.1 → XP_047296101.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

    2. XM_047440144.1 → XP_047296100.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

    3. XM_011528811.3 → XP_011527113.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

      UniProtKB/TrEMBL
      Q4VXP6
      Related
      ENSP00000359244.2, ENST00000370224.5
      Conserved Domains (5) summary
      pfam00520
      Location:119 → 324
      Ion_trans; Ion transport protein
      pfam03520
      Location:444 → 665
      KCNQ_channel; KCNQ voltage-gated potassium channel
      pfam07885
      Location:240 → 314
      Ion_trans_2; Ion channel
      pfam11956
      Location:789 → 876
      KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
      pfam16642
      Location:674 → 764
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    4. XM_017027844.3 → XP_016883333.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

      UniProtKB/TrEMBL
      A0A0G2JH35

    5. XM_017027841.3 → XP_016883330.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

      UniProtKB/TrEMBL
      Q4VXP6

    6. XM_017027842.3 → XP_016883331.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JH35

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

      UniProtKB/TrEMBL
      A0A0G2JH35

    8. XM_017027845.2 → XP_016883334.1  potassium voltage-gated channel subfamily KQT member 2 isoform X8

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187625.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65207872..65283534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323431.1 → XP_054179406.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

    2. XM_054323427.1 → XP_054179402.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

    3. XM_054323426.1 → XP_054179401.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

    4. XM_054323430.1 → XP_054179405.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

    5. XM_054323425.1 → XP_054179400.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

    6. XM_054323428.1 → XP_054179403.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

    7. XM_054323429.1 → XP_054179404.1  potassium voltage-gated channel subfamily KQT member 2 isoform X5

    8. XM_054323432.1 → XP_054179407.1  potassium voltage-gated channel subfamily KQT member 2 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43526.2 GenPept UniProtKB/Swiss-Prot:O43526

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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