SCG5 secretogranin V [Homo sapiens (human)] - Gene

Summary

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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A common variant in DRD3 receptor is associated with autism spectrum disorder.
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.
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 EBI GWAS CatalogPubMed
Meta-analysis of new genome-wide association studies of colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

SHGC-110252 (e-PCR)
- UniSTS:167744

STS-Y00757 (e-PCR)
- UniSTS:323

STS-Y00757 (e-PCR)
- UniSTS:64405

RH45863 (e-PCR)
- UniSTS:62615

WI-18351 (e-PCR)
- UniSTS:35055

Readthrough ARHGAP11A-SCG5

Readthrough gene: ARHGAP11A-SCG5, Included gene: ARHGAP11A

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

NG_051230.1 RefSeqGene

Range

5098..60480

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)