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SCG5 secretogranin V [ Homo sapiens (human) ]

Gene ID: 6447, updated on 7-Apr-2024

Summary

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Official Symbol
SCG5provided by HGNC
Official Full Name
secretogranin Vprovided by HGNC
Primary source
HGNC:HGNC:10816
See related
Ensembl:ENSG00000166922 MIM:173120; AllianceGenome:HGNC:10816
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
7B2; SgV; P7B2; SGNE1
Summary
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 trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
Expression
Biased expression in brain (RPKM 106.2), adrenal (RPKM 48.4) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
15q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32641710..32697092)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (30438200..30493619)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (32933911..32989293)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ARHGAP11A divergent transcript Neighboring gene 15q13 distal microdeletion recombination region Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene RNA, 7SL, cytoplasmic 286, pseudogene Neighboring gene golgin A8 family member N Neighboring gene Rho GTPase activating protein 11A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32933404-32934044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:32934045-32934683 Neighboring gene uncharacterized LOC124903458 Neighboring gene NANOG hESC enhancer GRCh37_chr15:32962383-32962915 Neighboring gene uncharacterized LOC105370756 Neighboring gene SCG5 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33009711-33010211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33010349-33010927 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33010928-33011505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33023067-33023606 Neighboring gene GREM1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:33065769-33066968 Neighboring gene gremlin 1, DAN family BMP antagonist Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:33073959-33074522 Neighboring gene uncharacterized LOC107984089 Neighboring gene formin 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The neuroendocrine protein 7B2 suppresses the aggregation of neurodegenerative disease-related proteins. Helwig M, et al. J Biol Chem, 2013 Jan 11. PMID 23172224, Free PMC Article
  2. The neuroendocrine protein 7B2 is intrinsically disordered. Dasgupta I, et al. Biochemistry, 2012 Sep 25. PMID 22947085, Free PMC Article
  3. Frequent epigenetic inactivation of the chaperone SGNE1/7B2 in human gliomas. Waha A, et al. Int J Cancer, 2012 Aug 1. PMID 21901745
  4. Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity. Bouatia-Naji N, et al. BMC Med Genet, 2007 Jul 7. PMID 17617923, Free PMC Article
  5. SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas. Waha A, et al. Oncogene, 2007 Aug 16. PMID 17334394

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Describe a hereditary mixed polyposis syndrome in which is characterized by SCG5-GREM1 duplication.
    Title: Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome.
  2. FAM20C plays a role in 7B2-mediated proPC2 activation by phosphorylating residue Thr111; and that 7B2 function is regulated by alternative splicing.
    Title: Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation.
  3. 7B2 chaperones blocked the cytotoxic effects of exogenous hIAPP
    Title: Blockade of islet amyloid polypeptide fibrillation and cytotoxicity by the secretory chaperones 7B2 and proSAAS.
  4. conclude that 7B2 is a natively disordered protein whose function as an antiaggregant chaperone is likely facilitated by its lack of appreciable secondary structure and tendency to form oligomers
    Title: The neuroendocrine protein 7B2 is intrinsically disordered.
  5. data provide insight into novel functions of 7B2 and establish this neural protein as an anti-aggregation chaperone associated with neurodegenerative disease
    Title: The neuroendocrine protein 7B2 suppresses the aggregation of neurodegenerative disease-related proteins.
  6. the significant effects of SGNE1/7B2 on the growth and apoptosis of glioblastoma cells provide a first proof for a functional implication of SGNE1/7B2 inactivation in the molecular pathology of gliomas.
    Title: Frequent epigenetic inactivation of the chaperone SGNE1/7B2 in human gliomas.
  7. Secretogranins V assays failed to detect increased concentrations in any of the patients with neuroendocrine tumours.
    Title: Measurements of secretogranins II, III, V and proconvertases 1/3 and 2 in plasma from patients with neuroendocrine tumours.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: A common variant in DRD3 receptor is associated with autism spectrum disorder.
  9. SGNE1 identified as a novel epigenetically silenced gene in medulloblastomas and its inactivation, as well as its inhibitory effect on tumor cell proliferation and focus formation strongly argues for a significant role in medulloblastoma development.
    Title: SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas.
  10. SGNE1 was overexpressed in gastrointestinal peptide-independent ACTH-independent macronodular adrenal hyperplasia. hyperplasia
    Title: Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
EBI GWAS Catalog
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of secretogranin V (SCG5; SGNE1; 7B2 protein) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough ARHGAP11A-SCG5

Readthrough gene: ARHGAP11A-SCG5, Included gene: ARHGAP11A

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables enzyme regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables unfolded protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide hormone processing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of hormone secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of hormone secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
neuroendocrine protein 7B2
Names
pituitary polypeptide
prohormone convertase chaperone
secretogranin-5
secretory granule endocrine protein I
secretory granule, neuroendocrine protein 1 (7B2 protein)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051230.1 RefSeqGene

    Range
    5098..60480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144757.3 → NP_001138229.1  neuroendocrine protein 7B2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001138229.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC005349, BP308267, Y00757
    Consensus CDS
    CCDS45207.1
    UniProtKB/Swiss-Prot
    P01164, P05408, Q6FHD0, Q9BS38
    UniProtKB/TrEMBL
    H7C4X7
    Related
    ENSP00000300175.4, ENST00000300175.9
    Conserved Domains (1) summary
    pfam05281
    Location:22 → 199
    Secretogranin_V; Neuroendocrine protein 7B2 precursor (Secretogranin V)

  2. NM_001394278.1 → NP_001381207.1  neuroendocrine protein 7B2 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC123768
    Consensus CDS
    CCDS91974.1
    UniProtKB/TrEMBL
    C9JNY7
    Related
    ENSP00000420347.1, ENST00000497208.5
    Conserved Domains (1) summary
    pfam05281
    Location:22 → 181
    Secretogranin_V; Neuroendocrine protein 7B2 precursor (Secretogranin V)

  3. NM_001394279.1 → NP_001381208.1  neuroendocrine protein 7B2 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC123768
    Consensus CDS
    CCDS91975.1
    UniProtKB/TrEMBL
    C9J650
    Related
    ENSP00000418430.1, ENST00000494364.5
    Conserved Domains (1) summary
    pfam05281
    Location:22 → 180
    Secretogranin_V; Neuroendocrine protein 7B2 precursor (Secretogranin V)

  4. NM_003020.5 → NP_003011.1  neuroendocrine protein 7B2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_003011.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    BP308267, Y00757
    Consensus CDS
    CCDS45208.1
    UniProtKB/TrEMBL
    H7C4X7
    Related
    ENSP00000388560.2, ENST00000413748.6
    Conserved Domains (1) summary
    pfam05281
    Location:22 → 198
    Secretogranin_V; Neuroendocrine protein 7B2 precursor (Secretogranin V)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    32641710..32697092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    4693842..4749235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p14 PATCHES

    Range
    2160074..2215509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    4856294..4911687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    30438200..30493619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05408.2 GenPept UniProtKB/Swiss-Prot:P05408

Gene LinkOut

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