Version 5.4
| Homo sapiens Protein: OTOGL | |||||
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| Summary | |||||
| InnateDB Protein | IDBP-380625.4 | ||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||
| Gene Symbol | OTOGL | ||||
| Protein Name | otogelin-like | ||||
| Synonyms | |||||
| Species | Homo sapiens | ||||
| Ensembl Protein | ENSP00000400895 | ||||
| InnateDB Gene | IDBG-49558 (OTOGL) | ||||
| Protein Structure |
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| UniProt Annotation | |||||
| Function | |||||
| Subcellular Localization | Secreted {ECO:0000305}. | ||||
| Disease Associations | Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]: A form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. {ECO:0000269PubMed:23122586}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||
| Tissue Specificity | Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle, kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues, highest levels in brain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not detected in adult skeletal muscle, liver, nor testis. {ECO:0000269PubMed:23122586}. | ||||
| Comments | |||||
| Interactions | |||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||
| PDB ID | |||||
| InterPro |
IPR001846
von Willebrand factor, type D domain IPR002919 Trypsin Inhibitor-like, cysteine rich domain IPR006207 Cystine knot, C-terminal IPR006552 VWC out IPR007934 Alpha-L-arabinofuranosidase B IPR014853 Uncharacterised domain, cysteine-rich IPR029034 Cystine-knot cytokine |
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| PFAM |
PF00094
PF01826 PF05270 PF08742 |
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| PRINTS | |||||
| PIRSF | |||||
| SMART |
SM00216
SM00041 SM00215 SM00832 |
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| TIGRFAMs | |||||
| Post-translational Modifications | |||||
| Modification | |||||
| Cross-References | |||||
| SwissProt | |||||
| PhosphoSite | PhosphoSite-Q3ZCN5 | ||||
| TrEMBL | E2QRK2 | ||||
| UniProt Splice Variant | |||||
| Entrez Gene | 283310 | ||||
| UniGene | Hs.723594 | ||||
| RefSeq | NP_775862 | ||||
| HUGO | HGNC:26901 | ||||
| OMIM | 614925 | ||||
| CCDS | |||||
| HPRD | 08815 | ||||
| IMGT | |||||
| EMBL | AC078817 AC083812 AC092945 | ||||
| GenPept | |||||