EXPH5 (exophilin 5)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23086 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Exophilin 5 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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EXPH5 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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EBS4, SLAC2-B, SLAC2B |
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Chromosome
Chromosome number
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11 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q22.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is tho |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||
| UniProt ID | Q8NEV8 | |
| Protein name | Exophilin-5 (Synaptotagmin-like protein homolog lacking C2 domains b) (SlaC2-b) (Slp homolog lacking C2 domains b) | |
| Protein function | May act as Rab effector protein and play a role in vesicle trafficking. | |
| Family and domains | ||
| Tissue specificity | TISSUE SPECIFICITY: Expressed in keratinocytes. {ECO:0000269|PubMed:23176819}. | |
| Sequence |
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| Sequence length | 1989 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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