• Gene id: 6447

Gene Summary

• Gene Symbol: SCG5   Gene   UCSC   Ensembl
• Aliases: 7B2, P7B2, SGNE1, SgV
• Gene name: secretogranin V
• Alternate names: neuroendocrine protein 7B2, pituitary polypeptide, prohormone convertase chaperone, secretogranin-5, secretory granule endocrine protein I, secretory granule, neuroendocrine protein 1 (7B2 protein),
• Gene location: 15q13.3 (32641612: 32697097)     Exons: 6     NC_000015.10
• Gene summary(Entrez): This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the traffic
• OMIM: 173120

SNPs

rs13265504

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.3674977G>A
NC_000008.11   g.3674977G>C
NC_000008.11   g.3674977G>T
NC_000008.10   g.3532499G>A
NC_000008.10   g.3532499G>C
NC_000008.10   g.3532499G>T|SEQ=[G/A/C/T]|GENE=CSMD1

Protein Summary

• Protein general information: P05408  
  • Name: Neuroendocrine protein 7B2 (Pituitary polypeptide) (Secretogranin V) (Secretogranin 5) (Secretory granule endocrine protein I) [Cleaved into: N terminal peptide; C terminal peptide]
  • Length: 212  
  • Mass: 23730
• Sequence:

  MVSRMVSTMLSGLLFWLASGWTPAFAYSPRTPDRVSEADIQRLLHGVMEQLGIARPRVEYPAHQAMNLVGPQSIE
  GGAHEGLQHLGPFGNIPNIVAELTGDNIPKDFSEDQGYPDPPNPCPVGKTADDGCLENTPDTAEFSREFQLHQHL
  FDPEHDYPGLGKWNKKLLYEKMKGGERRKRRSVNPYLQGQRLDNVVAKKSVPHFSDEDKDPE

• Structural information:
  • Interpro: IPR007945  
  • STRING: ENSP00000300175
• Other Databases: GeneCards:  SCG5  Malacards:  SCG5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030234	enzyme regulator activity	IBA	molecular function
GO:0046883	regulation of hormone secretion	IBA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005525	GTP binding	TAS	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:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0046883	regulation of hormone secretion	IEA	biological process
GO:0016486	peptide hormone processing	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0004857	enzyme inhibitor activity	ISS	molecular function
GO:0046883	regulation of hormone secretion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030141	secretory granule	ISS	cellular component
GO:0016486	peptide hormone processing	ISS	biological process
GO:0006886	intracellular protein transport	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881