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Gene

KCNQ2

potassium voltage-gated channel subfamily Q member 2

Summary

Cytogenetic location
20q13.33
Coordinates
Chromosome 20: 63,400,208–63,472,655 (GRCh38)
Exons
17 exons across 72.4 kb
Protein
872 amino acids
Also known as
Kv7.2, ENB1, BFNC, KCNA11, HNSPC
Previous symbols
EBN, EBN1
MANE Select transcript
ENST00000359125.7NM_172107.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How KCNQ2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 20, with a bracket where KCNQ2 sits. KCNQ2 and 31 genes near it on chromosome 20, from 62,936,432 to 63,936,431.Chromosome 2020q13.33p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3363 Mb63.2 Mb63.4 Mb63.6 Mb63.8 MbDIDO1: 62,877,738–62,937,992, reverse strandDIDO1GID8: 62,937,060–62,948,589, forward strandGID8SLC17A9: 62,952,645–62,969,588, forward strandSLC17A9BHLHE23: 63,005,927–63,007,035, reverse strandBHLHE23YTHDF1: 63,195,429–63,216,149, reverse strandYTHDF1BIRC7: 63,235,435–63,240,497, forward strandBIRC7NKAIN4: 63,240,784–63,272,694, reverse strandNKAIN4ARFGAP1: 63,272,785–63,289,791, forward strandARFGAP1COL20A1: 63,293,186–63,334,851, forward strandCOL20A1CHRNA4: 63,343,223–63,378,401, reverse strandCHRNA4KCNQ2: 63,400,208–63,472,655, reverse strandKCNQ2EEF1A2: 63,477,488–63,500,533, reverse strandEEF1A2PPDPF: 63,520,255–63,532,108, forward strandPPDPFPTK6: 63,526,306–63,537,770, reverse strandPTK6SRMS: 63,538,489–63,547,752, reverse strandSRMSFNDC11: 63,547,891–63,558,138, forward strandFNDC11HELZ2: 63,558,086–63,574,239, reverse strandGMEB2: 63,587,601–63,628,426, reverse strandGMEB2STMN3: 63,639,705–63,657,682, reverse strandSTMN3RTEL1: 63,657,810–63,696,253, forward strandRTEL1RTEL1-TNFRSF6B: 63,659,300–63,698,684, forward strandRTEL1-TNFRSF6BTNFRSF6B: 63,696,368–63,698,689, forward strandTNFRSF6BARFRP1: 63,698,622–63,708,662, reverse strandZGPAT: 63,707,353–63,736,150, forward strandZGPAT: 63,708,864–63,739,103, forward strandLIME1: 63,736,283–63,739,108, forward strand: 63,738,270–63,740,398, forward strandSLC2A4RG: 63,739,758–63,744,603, forward strandZBTB46: 63,743,668–63,832,455, reverse strandABHD16B: 63,861,498–63,862,988, forward strandABHD16BTPD52L2: 63,865,199–63,892,266, forward strandTPD52L2DNAJC5: 63,894,641–63,939,899, forward strandDNAJC5Diagram of KCNQ2: 17 exons on the reverse strand of chromosome 20Exon 17: 17 known disease-causing sitesExon 15: 20 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 5 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 18 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 6: 28 known disease-causing sitesExon 5: 32 known disease-causing sitesExon 4: 34 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 17: 63,400,208–63,407,375, 7,168 basesExon 16: 63,408,413–63,408,536, 124 basesExon 15: 63,413,450–63,413,581, 132 basesExon 14: 63,414,088–63,414,193, 106 basesExon 13: 63,414,903–63,415,126, 224 basesExon 12: 63,419,619–63,419,672, 54 basesExon 11: 63,424,177–63,424,206, 30 basesExon 10: 63,428,367–63,428,435, 69 basesExon 9: 63,431,340–63,431,369, 30 basesExon 8: 63,433,809–63,433,903, 95 basesExon 7: 63,438,625–63,438,720, 96 basesExon 6: 63,439,598–63,439,708, 111 basesExon 5: 63,442,406–63,442,531, 126 basesExon 4: 63,444,659–63,444,834, 176 basesExon 3: 63,445,238–63,445,364, 127 basesExon 2: 63,446,747–63,446,837, 91 basesExon 1: 63,472,168–63,472,655, 488 bases1716141210864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 9.2 kb of the gene's 72.4 kb; 2,619 of those bases code for the protein.

    How a genome test reads KCNQ2

    215

    positions in KCNQ2 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 72.4 kb of KCNQ2, introns included, not only the 9.2 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). KCNQ2 gene: potassium voltage-gated channel subfamily Q member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnq2

    Vancouver

    Dante Labs. KCNQ2 gene: potassium voltage-gated channel subfamily Q member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnq2

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