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Gene

MARVELD2

MARVEL domain containing 2

Summary

Cytogenetic location
5q13.2
Coordinates
Chromosome 5: 69,415,116–69,444,330 (GRCh38)
Exons
7 exons across 29.2 kb
Protein
558 amino acids
Also known as
FLJ30532, TRIC
Previous symbols
MRVLDC2, DFNB49
MANE Select transcript
ENST00000325631.10NM_001038603.3
Locus type
gene with protein product

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 MARVELD2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where MARVELD2 sits. MARVELD2 and 13 genes near it on chromosome 5, from 68,929,723 to 69,929,722.Chromosome 55q13.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.369 Mb69.2 Mb69.4 Mb69.6 Mb69.8 MbSLC30A5: 69,093,917–69,156,940, forward strandSLC30A5CCNB1: 69,167,004–69,178,389, forward strandCCNB1CENPH: 69,189,537–69,210,357, forward strandCENPHKGD4: 69,217,712–69,231,410, forward strandKGD4CDK7: 69,234,550–69,277,495, forward strandCDK7CCDC125: 69,279,859–69,332,828, reverse strandCCDC125AK6: 69,333,643–69,370,026, reverse strandAK6TAF9: 69,362,026–69,370,026, reverse strandTAF9RAD17: 69,369,293–69,414,806, forward strandRAD17MARVELD2: 69,415,116–69,444,330, forward strandMARVELD2OCLN: 69,492,184–69,558,114, forward strandOCLNGTF2H2C: 69,558,392–69,595,221, forward strandGTF2H2C: 69,632,080–69,636,399, forward strand: 69,898,769–69,903,085, reverse strandDiagram of MARVELD2: 7 exons on the forward strand of chromosome 5Exon 2: 15 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 69,415,116–69,415,170, 55 basesExon 2: 69,419,371–69,420,531, 1,161 basesExon 3: 69,424,601–69,424,636, 36 basesExon 4: 69,432,527–69,432,675, 149 basesExon 5: 69,432,922–69,433,093, 172 basesExon 6: 69,440,450–69,440,500, 51 basesExon 7: 69,441,532–69,444,330, 2,799 bases124675′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 4.4 kb of the gene's 29.2 kb; 1,677 of those bases code for the protein.

    How a genome test reads MARVELD2

    29

    positions in MARVELD2 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 29.2 kb of MARVELD2, introns included, not only the 4.4 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.). MARVELD2 gene: MARVEL domain containing 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/marveld2

    Vancouver

    Dante Labs. MARVELD2 gene: MARVEL domain containing 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/marveld2

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