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. Author manuscript; available in PMC: 2021 Oct 1.
Published in final edited form as: Ophthalmic Genet. 2020 May 6;41(5):401–412. doi: 10.1080/13816810.2020.1747090

Table 2:

Summary of ultra-rare USH proteins function, interactions, localization, and animal models

Gene Protein Other Associated Diseases Function Interactions with USH Proteins Localization Animal Models
PDZD7 PDZ domain containing 7 Non-syndromic deafness (56, 100–103) Scaffolding protein (56)

  • Ankle links of developing hair cells (mouse (58) and rat (106))

  • Ciliary base of RPE (human, cultured) (47)

  • Ciliary base of nasal epithelial cells (human) (47)

  • Connecting cilium region of photoreceptors (zebrafish, mouse) (47)

  • Inner retina (zebrafish, less concentrated) (47)

  • Spiral hair cells (zebrafish) (47)
HARS Histidyl-tRNA synthetase Peripheral neuropathies (107–109) Aminoacyl-tRNA synthetase (62) Unknown Not available Not available
ABHD12 α/β-hydrolase domain containing 12 Serine hydrolase (116) Unknown

  • Optic tectum and tract (zebrafish) (114)

  • Spinal cord (zebrafish) (114)

  • Zebrafish (114)

  • Mouse (67)
CIB2 Calcium and integrin binding family member 2 Non-syndromic deafness (50, 117–120) Calcium (50) or magnesium sensor (71)

  • WHRN (50)

  • MYO7A (50)

  • Photoreceptor inner and outer segments (mouse) (50)

  • Developing organ of Corti and vestibular organs (mouse) (50)

  • Length of hair cell stereocilia, concentrated at tips of shorter stereocilia (mouse) (50, 72)

  • Mouse (50, 72, 73)

  • Zebrafish (50)

  • Drosophila (50)
CEP250 Centrosomal protein 250 Non-syndromic RP (77) Ciliary/centrosomal protein (74) CEP78 (83) Photoreceptor outer segments (mouse) (77)
CEP78 Centrosomal protein 78 Non-syndromic RP (77) Ciliary/centrosomal protein (74, 122) CEP250 (83)

  • Photoreceptor inner segments base of primary cilium (human (52, 80), mouse (52))

  • Variety of other retinal cell types (human, mouse) (52)

  • Fibroblast primary cilium (80)

 Flatworm (123)
ARSG Arylsulfatase G Lysosomal storage disorders and neuronal ceroid lipofuscinosis in animals (85, 86, 124, 125) Sulfatase (84) Unknown

  • Lysosome (in vitro) (126)

  • Developing choroid plexus (mouse) (127)
ESPN Espin Non-syndromic deafness (88, 128) Actin-bundling protein (87) WHRN (129)

  • Length of cochlear hair cells (mouse) (54, 129)

  • Müller glia microvilli (rat) (87)

  • Several retinal layers (mouse) (129)

 Mouse (130)