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RPH3AL (rabphilin 3A like (without C2 domains))

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9501
Gene nameGene Name - the full gene name approved by the HGNC.
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.
RPH3AL
SynonymsGene synonyms aliases
NOC2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT018406 hsa-miR-335-5p Microarray 18185580
MIRT051146 hsa-miR-16-5p CLASH 23622248
MIRT647348 hsa-miR-1288-5p HITS-CLIP 23824327
MIRT647347 hsa-miR-6793-3p HITS-CLIP 23824327
MIRT647346 hsa-miR-615-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm TAS 9367993
GO:0006886 Process Intracellular protein transport IEA
GO:0006887 Process Exocytosis IEA
GO:0008092 Function Cytoskeletal protein binding TAS 9367993
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRKQHLSPAEVEAILQVIQ
RAERLDVLEQQRIGRLVERLETMRRNVMGNGLSQCLLCGEVLGFLGSSSVFCKDCRKKVC
TKCGIEASPGQKRPLWLCKICSEQREVWKRSGAWFYKGL
PKYILPLKTPGRADDPHFRPL
PTEPAEREPRSSETSRIYTWARGRVVSSDSDSDSDLSSSSLEDRLPSTGVRDRKGDKPWK
ESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGSADPPGGPRPGLTRRAPVKDTPGRA
PAADAAPAGPSSCLG
Sequence length 315
Interactions View interactions
Associated diseases
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
Unknown
Disease name Disease term dbSNP ID References
Intracranial hypertension Pseudotumor Cerebri 29608535

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