Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9501
Gene name Gene Name - the full gene name approved by the HGNC.
Rabphilin 3A like (without C2 domains)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPH3AL
Synonyms (NCBI Gene) Gene synonyms aliases
NOC2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NOC2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604881 10296 ENSG00000181031
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
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
MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRKQHLSPAEVEAILQVIQ
RAERLDVLEQQRIGRLVERLETMRRNVMGNGLSQCLLCGEVLGFLGSSSVFCKDCRKKVC
TKCGIEASPGQKRPLWLCKICSEQREVWKRSGAWFYKGL
PKYILPLKTPGRADDPHFRPL
PTEPAEREPRSSETSRIYTWARGRVVSSDSDSDSDLSSSSLEDRLPSTGVRDRKGDKPWK
ESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGSADPPGGPRPGLTRRAPVKDTPGRA
PAADAAPAGPSSCLG
Sequence length 315
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
22843504
Unknown
Disease term Disease name Evidence References Source
Hypertension Hypertension GWAS
Alzheimer disease Alzheimer disease GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Borderline Personality Disorder Associate 25612291
Breast Neoplasms Associate 26070152
Colonic Neoplasms Associate 17981610
Endocrine System Diseases Associate 19212825
Infertility Male Associate 31103287
Neoplasm Metastasis Associate 17981610
Pediatric Obesity Associate 25612291