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; AllianceGenome:HGNC:12646
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
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Genomic context

Location:: 2p11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (85584431..85593406)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (85586491..85595466)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (85811554..85820529)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 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.

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

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

Gene Ontology Provided by GOA

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

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

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

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.