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Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]
OTOS (Otospiralin) is a Protein Coding gene. Diseases associated with OTOS include Ivic Syndrome and Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J240143 | Enhancer | 0.8 | Ensembl ENCODE | 600.7 | +0.7 | 661 | 0.6 | HNRNPL CTCF ZNF692 REST RAD21 TRIM22 MNT ZNF184 SMC3 MIER3 | OTOS COPS9 | |
GH02J240170 | Enhancer | 0.4 | Ensembl | 12.4 | -26.0 | -26040 | 0.4 | KLF9 BHLHE40 FOXA1 | OTOS COPS9 FR772910-004 ENSG00000286325 GPC1 | |
GH02J240146 | Enhancer | 0.5 | Ensembl | 7.3 | -2.4 | -2439 | 0.8 | MNT KLF9 FOXA1 YBX1 ARNT ZFHX2 ZNF335 KLF1 EGR2 | OTOS piR-43107-172 GPC1 | |
GH02J240140 | Enhancer | 0.5 | Ensembl ENCODE CraniofacialAtlas | 6.7 | +4.7 | 4678 | 1.4 | OTOS COPS9 | ||
GH02J240141 | Enhancer | 0.2 | Ensembl | 5.7 | +3.9 | 3861 | 0.2 | OTOS COPS9 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007605 | sensory perception of sound | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OTOS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OTOS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OTOS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Otos 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Otos 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | OTOS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | OTOS 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OTOS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | otos 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | OTOS 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35889242 | - | p.Pro7Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
ivic syndrome |
|
|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
|
|
deafness, autosomal recessive 68 |
|
|
ankyloglossia with or without tooth anomalies |
|
|