Gene Gene information from NCBI Gene database.
Entrez ID 9501
Gene name Rabphilin 3A like (without C2 domains)
Gene symbol RPH3AL
Synonyms (NCBI Gene)
NOC2
Chromosome 17
Chromosome location 17p13.3
Summary 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.
232
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 9367993
GO:0006886 Process Intracellular protein transport IEA
GO:0006887 Process Exocytosis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604881 10296 ENSG00000181031
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 17981610
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 10395805, 12375017
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism GWASDB_DG 22843504
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder Pubtator 25612291 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26070152 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 10395805
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 10395805, 12375017
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 17981610 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 12375017, 17981610, 21536019, 29074220
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 12375017
★☆☆☆☆
Found in Text Mining only