Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9501 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Rabphilin 3A like (without C2 domains) |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RPH3AL |
SynonymsGene synonyms aliases
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NOC2 |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.3 |
SummarySummary 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 |
miRNAmiRNA 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 IDsOther 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
Accession |
ID |
Position in sequence |
Description |
Type |
PF02318 |
FYVE_2 |
45 → 159 |
FYVE-type zinc finger |
Family |
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Sequence |
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Sequence length |
315 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
22843504 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Intracranial hypertension |
Pseudotumor Cerebri |
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29608535 |
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