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    SCG5 secretogranin V [ Homo sapiens (human) ]

    Gene ID: 6447, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See SCG5 in Genome Data Viewer
    Location:
    15q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (32641710..32697092)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (30438200..30493619)
    RS_2024_09 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 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. 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
    2. The production by alternate splicing of two mRNAs differing by one codon could be an intrinsic property of neuroendocrine protein 7B2 gene expression in man. Paquet L, et al. Biochem Biophys Res Commun, 1991 Jan 15. PMID 1989596
    3. Regional mapping of the human gene encoding the novel pituitary polypeptide 7B2 to chromosome 15q13----q14 by in situ hybridization. Roebroek AJ, et al. Cytogenet Cell Genet, 1989. PMID 2776483
    4. Secretory protein 7B2 is associated with pancreatic hormones within normal islets and some experimentally induced tumors. Benjannet S, et al. Endocrinology, 1988 Aug. PMID 2840270
    5. Cloning and sequence analysis of human pituitary cDNA encoding the novel polypeptide 7B2. Martens GJ. FEBS Lett, 1988 Jul 4. PMID 3134253

    See all (46) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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