Table 1.
Gene Symbol | Gene Name | OMIM Number‡ | Predicted miRNA Target Sites† | Inner Ear Expression * | Known Function | Number of Families Screened (ARNSHL) |
---|---|---|---|---|---|---|
AQP5 | Aquaporin 5 | 600442 | miR-96 | Yes | Transmembrane water transport | 192 |
ATP2B4 | Plasma membrane calcium pump | 108732 | miR-183 | Yes | Calcium ion transport | 192 |
BTG1 | B-cell translocation gene 1 | 109580 | miR-183 | Yes | Negative regulator of cell proliferation | 192 |
CaBP1 | Calcium binding protein 1 | 605563 | miR-96 | Yes | Competitively inhibits calmodulin binding to calcium | 192 |
Cav1.2 | Voltage-dependent calcium channel 1.2. | 114205 | miR-96 miR-182 |
Yes | Calcium ion transport | 192 |
Cav1 | Caveolin 1 | 601047 | miR-96 | ? | Integral membrane protein that interacts with G-proteins in cell signaling | 192 |
CELSR1 | Cadherin EGF receptor 1 | 604523 | miR-96 | ? | Receptor involved in contact-mediated communication | 192 |
CELSR2 | Cadherin EGF receptor 2 | 604265 | miR-96 | Yes | Receptor involved in contact-mediated communication | 192 |
EZRIN | Cytovillin | 123900 | miR-183 | Yes | Component of microvilli and substrate for protein-tyrosine kinases | 576 |
GNG5 | Guanine nucleotide-binding protein 5 | 600874 | miR-183 | Yes | G-protein cell signaling | 192 |
GRID1 | Glutamate receptor delta 1 | 610659 | miR-96 | ? | Synaptic transmission | 192 |
KCC2 | Solute carrier 12A5 | 606726 | miR-96 | Yes | Potassium/chloride transport | 192 |
KCNJ14 | Potassium inwardly-rectifying channel (Kir2.4) | 603953 | miR-183 | Yes | Potassium transport | 192 |
MITF | Microphthalmia-associated transcription factor | 156845 | miR-96 miR-182 |
Yes | Basic helix-loop-helix transcription factor involved in regulation of development | 192 |
MYRIP | Myosin VIIa and Rab-interacting protein | 611790 | miR-96 miR-182 (2) |
Yes | Actin transport and cytoskeleton | 192 |
NCS1 | Neuronal calcium sensor 1 | 603315 | miR-183 | Yes | Calcium-ion sensor that modulates synaptic activity | 192 |
NEFL | Neurofilament protein | 162280 | miR-183 | Yes | Neurofilament assemby and axonal transport | 192 |
PEX19 | Peroxisome biogenesis factor 19 | 600279 | miR-183 | Yes | Cellular protein sorting | 192 |
PPP2CA | Protein phosphatase, catalytic subunit, alpha | 176915 | miR-183 | Yes | Regulation of protein phosphorylation | 192 |
RDX | Radixin | 179410 | miR-96 miR-182 |
Yes | Cytoskeletal protein that may link actin to plasma membrane | 576 |
RYK | Receptor-like tyrosine kinase | 600524 | miR-96 | ? | Growth factor receptor tyrosine kinase | 192 |
SLC6A6 | Solute carrier family 6 | 186854 | miR-183 | Yes | Taurine (neurotransmitter) transporter | 192 |
TFCP2L3 | Transcription factor CP2-like 3 | 608576 | miR-96 (3) | Yes | Transcriptional regulation | 192 |
TREK-1 | Potassium channel KCNK2 | 603219 | miR-183 | Yes | Central nervous system (CNS) potassium transport | 192 |
ZCCHC3 | Zinc finger CCHC containing 3 | - | miR-183 | Yes | Transcriptional regulation | 192 |
Online Mammalian Inheritance in Man identification number
Predictions from miRanda, PicTar and TargetScan algorithms. Number of sites if multiple sites (brackets).
Reported in database or publication
- Not available