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Gene

ESPN

espin

Summary

Cytogenetic location
1p36.31
Coordinates
Chromosome 1: 6,424,776–6,460,944 (GRCh38)
Exons
13 exons across 36.2 kb
Protein
854 amino acids
Previous symbols
DFNB36
MANE Select transcript
ENST00000645284.1NM_031475.3
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

    • Hearing Loss and Deafness

      • Nonsyndromic Genetic Hearing Loss

        One of 97 genes linked to it

        Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

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

        Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

    How ESPN is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 1, with a bracket where ESPN sits. ESPN and 21 genes near it on chromosome 1, from 5,942,860 to 6,942,859.Chromosome 11p36.31p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q446 Mb6.2 Mb6.4 Mb6.6 Mb6.8 MbNPHP4: 5,862,804–5,993,455, reverse strandNPHP4KCNAB2: 5,990,927–6,101,193, forward strandKCNAB2CHD5: 6,101,787–6,180,356, reverse strandCHD5: 6,159,430–6,197,757, reverse strandRPL22: 6,185,020–6,209,389, reverse strandRPL22RNF207: 6,205,392–6,224,634, forward strandRNF207ICMT: 6,221,193–6,235,997, reverse strandICMTHES3: 6,241,481–6,246,656, forward strandHES3GPR153: 6,247,347–6,261,104, reverse strandGPR153ACOT7: 6,264,268–6,393,789, reverse strandACOT7HES2: 6,412,418–6,424,690, reverse strandHES2ESPN: 6,424,776–6,460,944, forward strandESPNTNFRSF25: 6,460,786–6,466,190, reverse strandTNFRSF25PLEKHG5: 6,467,122–6,520,074, reverse strandPLEKHG5NOL9: 6,521,347–6,554,536, reverse strandNOL9TAS1R1: 6,555,303–6,579,755, forward strandTAS1R1ZBTB48: 6,579,994–6,589,290, forward strandZBTB48KLHL21: 6,590,724–6,614,607, reverse strandKLHL21PHF13: 6,613,723–6,624,030, forward strandPHF13THAP3: 6,624,845–6,635,612, forward strandTHAP3DNAJC11: 6,634,167–6,701,924, reverse strandDNAJC11CAMTA1: 6,785,432–7,769,706, forward strandCAMTA1Diagram of ESPN: 13 exons on the forward strand of chromosome 1Exon 2: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 13: 4 known disease-causing sitesExon 1: 6,424,776–6,425,249, 474 basesExon 2: 6,428,226–6,428,419, 194 basesExon 3: 6,440,254–6,440,440, 187 basesExon 4: 6,440,626–6,440,808, 183 basesExon 5: 6,440,934–6,441,065, 132 basesExon 6: 6,444,481–6,444,682, 202 basesExon 7: 6,445,664–6,445,935, 272 basesExon 8: 6,448,641–6,449,091, 451 basesExon 9: 6,451,603–6,451,748, 146 basesExon 10: 6,451,833–6,452,096, 264 basesExon 11: 6,457,184–6,457,263, 80 basesExon 12: 6,457,361–6,457,372, 12 basesExon 13: 6,459,999–6,460,944, 946 bases124681012135′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 3.5 kb of the gene's 36.2 kb; 2,565 of those bases code for the protein.

    How a genome test reads ESPN

    16

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

    12 of them (75%) fall in regions short reads find hard.

    • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
    • Segmental duplications (12 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

    A whole genome covers all 36.2 kb of ESPN, introns included, not only the 3.5 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.). ESPN gene: espin. Retrieved 16 October 2026, from https://dantelabs.com/genes/espn

    Vancouver

    Dante Labs. ESPN gene: espin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/espn

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