• Gene id: 9501

Gene Summary

• Gene Symbol: RPH3AL   Gene   UCSC   Ensembl
• Aliases: NOC2
• Gene name: rabphilin 3A like (without C2 domains)
• Alternate names: rab effector Noc2, no C2 domains protein,
• Gene location: 17p13.3 (352841: 212388)     Exons: 10     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 603876

Protein Summary

• Protein general information: Q9UNE2  
  • Name: Rab effector Noc2 (No C2 domains protein) (Rabphilin 3A like protein)
  • Length: 315  
  • Mass: 34464
  • 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
• Sequence:

  MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRKQHLSPAEVEAILQVIQRAERLDVLEQQRIGR
  LVERLETMRRNVMGNGLSQCLLCGEVLGFLGSSSVFCKDCRKKVCTKCGIEASPGQKRPLWLCKICSEQREVWKR
  SGAWFYKGLPKYILPLKTPGRADDPHFRPLPTEPAEREPRSSETSRIYTWARGRVVSSDSDSDSDLSSSSLEDRL
  PSTGVRDRKGDKPWKESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGSADPPGGPRPGLTRRAPVKDTPGRA
  PAADAAPAGPSSCLG

• Structural information:
  • Protein Domains: (41..15-)
    (/note="RabBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00234"-)
  • Interpro: IPR041282  IPR041857  IPR010911  IPR030538  IPR017455   IPR011011  IPR013083  
  • Prosite: PS50916 PS50178
  • CDD: cd15763
  • STRING: ENSP00000328977
• Other Databases: GeneCards:  RPH3AL  Malacards:  RPH3AL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0008092	cytoskeletal protein binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006887	exocytosis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0017158	regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0030274	LIM domain binding	IEA	molecular function
GO:0030141	secretory granule	IEA	cellular component
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0050714	positive regulation of protein secretion	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray