RPH3AL (rabphilin 3A like (without C2 domains))
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9501 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Rabphilin 3A like (without C2 domains) |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RPH3AL |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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NOC2 |
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Chromosome
Chromosome number
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17 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative spl |
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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 | Q9UNE2 | ||||||||||
| Protein name | Rab effector Noc2 (No C2 domains protein) (Rabphilin-3A-like protein) | ||||||||||
| Protein function | Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Moderate to high levels of expression in thyroid, ovary, stomach, heart, pancreas, skeletal muscle, kidney and liver. Also detected in epithelial cells. {ECO:0000269|PubMed:10395805, ECO:0000269|PubMed:15003533}. | ||||||||||
| Sequence |
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| Sequence length | 315 | ||||||||||
| 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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