Version 5.4
| Homo sapiens Gene: SERPINB6 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-56735.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | SERPINB6 | ||||||||||||||||||
| Gene Name | serpin peptidase inhibitor, clade B (ovalbumin), member 6 | ||||||||||||||||||
| Synonyms | CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000124570 | ||||||||||||||||||
| Encoded Proteins |
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
serpin peptidase inhibitor, clade B (ovalbumin), member 6
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 6:2948159-2972165 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p25.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 8 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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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
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Gene ID
Gene Order
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Dissolution of Fibrin Clot pathway
Hemostasis pathway
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| KEGG |
Amoebiasis pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_001195291 NM_001271822 NM_001271823 NM_001271824 NM_001271825 NM_001297699 NM_004568 XM_006715112 XM_006715113 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS4479 CCDS75386 CCDS75387 | ||||||||||||||||||
| HPRD | 01413 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||