RPH3AL
Rabphilin 3A Like (without C2 domains)
Gene Information Card
| Symbol | RPH3AL |
|---|---|
| Full Name | Rabphilin 3A Like (without C2 domains) |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 9501 ncbi.nlm.nih.gov/gene/9501 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q9UNE2 |
| OMIM ID | 604965 |
| HGNC ID | 10296 |
| Aliases | Noc2, NoC2 |
Description
RPH3AL encodes a protein that lacks the C2 domains present in rabphilin 3A and is involved in regulated exocytosis, particularly in neuroendocrine and endocrine cells. It interacts with Rab3 and Rab27 GTPases to modulate vesicle docking and fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus (type 2) | Altered insulin secretion due to impaired exocytosis in pancreatic beta cells | PMID: 12023385 |
| Cancer (various types) | Dysregulated expression affecting vesicle trafficking and cell signaling | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Brain | 8.3 | Low |
| Adrenal gland | 15.2 | Medium |
| Testis | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| SH-SY5Y | 14.2 | Neuroblastoma cell line |
| MIN6 | 18.5 | Mouse pancreatic beta cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115His) | Missense | <0.01% | Unknown functional effect |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential impairment of exocytosis
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • exocytosis (GO:0006887) | • regulation of exocytosis (GO:0017157) |
| • small GTPase binding (GO:0031267) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Rab3/Rab27-mediated vesicle trafficking
• Insulin secretion pathway
Protein Summary
RPH3AL (Noc2) is a 305-amino acid protein that lacks C2 domains and contains a Rab-binding domain. It localizes to secretory granules and regulates calcium-dependent exocytosis by interacting with Rab3 and Rab27. It is highly expressed in endocrine tissues and plays a role in insulin secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPH3AL Knockout HEK293 Cell Line | EDJ-KQ6612 | Human | 9501 | Details Get a Quote |
| RPH3AL Knockout A-549 Cell Line | EDJ-KQ30851 | Human | 9501 | Details Get a Quote |
| RPH3AL Knockout HCT 116 Cell Line | EDJ-KQ30852 | Human | 9501 | Details Get a Quote |
| RPH3AL Knockout HeLa Cell Line | EDJ-KQ30853 | Human | 9501 | Details Get a Quote |
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