FB2026_03 , released September 17, 2026
Human Disease Model Report: deafness, autosomal recessive 2
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General Information
Name
deafness, autosomal recessive 2
FlyBase ID
FBhh0000471
Disease Ontology Term
Parent Disease
OMIM
DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2
Overview

One of several diseases associated with defects in the human gene MYO7A, an unconventional myosin. See human disease model report for Usher syndrome, deafness, MYO7A-related (FBhh0000472). OMIM includes this disease in the phenotypic series deafness, autosomal recessive (FBhh0000468).

[updated Jan. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: deafness, autosomal recessive
Symptoms and phenotype
Specific Disease Summary: deafness, autosomal recessive 2
OMIM report

[DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2](https://omim.org/entry/600060)

Human gene(s) implicated

[MYOSIN VIIA; MYO7A](https://omim.org/entry/276903)

Symptoms and phenotype
Genetics

Autosomal recessive deafness 2 (DFNB2) is caused by homozygous or compound heterozygous mutation in the myosin VIIA gene (MYO7A). [from MIM:600060; 2017.01.09]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The MYO7A gene encodes a protein classified as an unconventional myosin. Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments, thus enabling them to transport cargo (Weil et al., 1995; pubmed:7870171). [from MIM:276903; 2017.01.09]

(OMIM, 2013-)
External links
Disease synonyms
DFNB2
hearing loss
neurosensory nonsyndromic recessive deafness 2
NSRD2
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MYO7A; myosin VIIA
    D. melanogaster ortholog (based on DIOPT)
    Dmel\ck
    (DIOPT, 2013-)
    Dmel\Myo28B1
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to many: 2 human to 2 Drosophila; the other human gene is MYO7B.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)