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Gene

MSRB3

methionine sulfoxide reductase B3

Summary

Cytogenetic location
12q14.3
Coordinates
Chromosome 12: 65,278,683–65,466,907 (GRCh38)
Exons
7 exons across 188.2 kb
Protein
185 amino acids
Also known as
FLJ36866, DKFZp686C1178
Previous symbols
DFNB74
MANE Select transcript
ENST00000308259.10NM_001031679.3
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 MSRB3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 12, with a bracket where MSRB3 sits. MSRB3 and 5 genes near it on chromosome 12, from 64,872,795 to 65,872,794.Chromosome 1212q14.3p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3365 Mb65.2 Mb65.4 Mb65.6 Mb65.8 MbTBC1D30: 64,759,484–64,881,033, forward strandTBC1D30: 64,759,496–64,977,509, forward strandWIF1: 65,050,565–65,121,582, reverse strandWIF1LEMD3: 65,169,342–65,248,485, forward strandLEMD3MSRB3: 65,278,683–65,466,907, forward strandMSRB3HMGA2: 65,824,224–65,966,291, forward strandHMGA2Diagram of MSRB3: 7 exons on the forward strand of chromosome 12Exon 1: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 65,278,683–65,278,865, 183 basesExon 2: 65,308,529–65,308,655, 127 basesExon 3: 65,326,826–65,326,934, 109 basesExon 4: 65,328,526–65,328,603, 78 basesExon 5: 65,368,998–65,369,026, 29 basesExon 6: 65,453,728–65,453,825, 98 basesExon 7: 65,463,155–65,466,907, 3,753 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 188.2 kb; 558 of those bases code for the protein.

    How a genome test reads MSRB3

    7

    positions in MSRB3 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 188.2 kb of MSRB3, 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.). MSRB3 gene: methionine sulfoxide reductase B3. Retrieved 17 October 2026, from https://dantelabs.com/genes/msrb3

    Vancouver

    Dante Labs. MSRB3 gene: methionine sulfoxide reductase B3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/msrb3

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