VAMP5 vesicle associated membrane protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VAMP5provided by HGNC
Official Full Name: vesicle associated membrane protein 5provided by HGNC
Primary source: HGNC:HGNC:12646
See related: Ensembl:ENSG00000168899 MIM:607029
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
Summary: Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lung (RPKM 45.4), fat (RPKM 40.5) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 2p11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	2	NC_000002.12 (85584431..85593406)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (85811531..85820511)

Chromosome 2 - NC_000002.12 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?

This study provided new evidence of epistatic association of VAMP5 and MCC with increased risk of Hirschsprung disease
Title: Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children.
VAMP5 polymorphisms were found to be associated with the total colonic aganglionosis of Hirschsprung disease.
Title: Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.
Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population.
Title: VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.

Submit: New GeneRIF Correction

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

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. NHGRI GWA Catalog NHGRI GWA 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH77700 (e-PCR)
- UniSTS:47743

SGC32754 (e-PCR)
- UniSTS:55551

Homology

Homologs of the VAMP5 gene: The VAMP5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 164 organisms have orthologs with human gene VAMP5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
muscle organ development	TAS Traceable Author Statement more info	PubMed
skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
extracellular exosome	HDA more info	PubMed
integral component of organelle membrane	ISS Inferred from Sequence or Structural Similarity more info
integral component of plasma membrane	IEA Inferred from Electronic Annotation more info
intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
late endosome	ISS Inferred from Sequence or Structural Similarity more info
perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: vesicle-associated membrane protein 5

Names: VAMP-5; myobrevin

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.