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OTOF

Chr 2p23.3

otoferlin

Aliases:
FER1L2, DFNB6
MANE:
ENST00000272371.7
OMIM: 603681 ↗NCBI: 9381 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Auditory Neuropathy Spectrum Disorde

    BIALLELIC, autosomal or pseudoautosomal

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autosomal recessive nonsyndromic hearing loss 9

    0.82

  • hearing loss, autosomal recessive

    0.81

  • deafness

    0.71

  • nonsyndromic genetic hearing loss

    0.57

  • auditory neuropathy

    0.56

  • Rare genetic deafness

    0.55

  • Sensorineural hearing impairment

    0.54

  • Hearing impairment

    0.47

  • tricho-oculo-dermo-vertebral syndrome

    0.45

  • Abnormality of the ear

    0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Otoferlin

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity)

Diseases associated with OTOF

Curated MONDO disease pages that list OTOF among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.