VAMP8 (vesicle associated membrane protein 8) - Rat Genome Database
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Gene: VAMP8 (vesicle associated membrane protein 8) Homo sapiens
Analyze
Symbol: VAMP8
Name: vesicle associated membrane protein 8
RGD ID: 1347649
HGNC Page HGNC
Description: Exhibits chloride channel inhibitor activity. Involved in several processes, including autophagosome membrane docking; mucus secretion; and regulation of secretion by cell. Localizes to several cellular components, including SNARE complex; cytoplasmic vesicle; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EDB; VAMP-8; vesicle-associated membrane protein 8; vesicle-associated membrane protein 8 (endobrevin)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl285,561,562 - 85,582,031 (+)EnsemblGRCh38hg38GRCh38
GRCh38285,577,535 - 85,582,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37285,804,709 - 85,809,154 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37285,804,614 - 85,809,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36285,658,228 - 85,662,665 (+)NCBINCBI36hg18NCBI36
Build 34285,716,374 - 85,720,811NCBI
Celera285,632,880 - 85,637,440 (+)NCBI
Cytogenetic Map2p11.2NCBI
HuRef285,701,916 - 85,706,329 (+)NCBIHuRef
CHM1_1285,734,420 - 85,738,962 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9144278   PMID:9614193   PMID:9878266   PMID:10336434   PMID:10601239   PMID:10820264   PMID:11029036   PMID:11031247   PMID:11101518   PMID:11112705   PMID:11252894  
PMID:11278762   PMID:11694590   PMID:11786915   PMID:11839770   PMID:12130530   PMID:12477932   PMID:12828989   PMID:15489334   PMID:15815621   PMID:16110299   PMID:16195891   PMID:16677249  
PMID:16690874   PMID:17255364   PMID:17975119   PMID:17979178   PMID:18073581   PMID:18253931   PMID:18388320   PMID:18570918   PMID:19023099   PMID:19056867   PMID:19282863   PMID:19374688  
PMID:19557002   PMID:19738201   PMID:19738360   PMID:19752551   PMID:19913121   PMID:19943878   PMID:20089838   PMID:20458337   PMID:20533276   PMID:20628086   PMID:20706999   PMID:20877624  
PMID:21486954   PMID:21674799   PMID:21743467   PMID:21873635   PMID:21988832   PMID:22118466   PMID:22144578   PMID:22192511   PMID:22589474   PMID:22623428   PMID:23217709   PMID:23376485  
PMID:24550300   PMID:25209430   PMID:25419848   PMID:25648148   PMID:25686604   PMID:25748427   PMID:26124288   PMID:26186194   PMID:26191281   PMID:26496610   PMID:26553929   PMID:26638075  
PMID:27791468   PMID:28514442   PMID:29360461   PMID:29568061   PMID:30165196   PMID:30442766   PMID:30584088   PMID:30630984   PMID:30639242   PMID:30659120   PMID:30742775   PMID:30945947  
PMID:31594818   PMID:31694946   PMID:31806350   PMID:32817423   PMID:33060197   PMID:33144569  


Genomics

Comparative Map Data
VAMP8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl285,561,562 - 85,582,031 (+)EnsemblGRCh38hg38GRCh38
GRCh38285,577,535 - 85,582,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37285,804,709 - 85,809,154 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37285,804,614 - 85,809,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36285,658,228 - 85,662,665 (+)NCBINCBI36hg18NCBI36
Build 34285,716,374 - 85,720,811NCBI
Celera285,632,880 - 85,637,440 (+)NCBI
Cytogenetic Map2p11.2NCBI
HuRef285,701,916 - 85,706,329 (+)NCBIHuRef
CHM1_1285,734,420 - 85,738,962 (+)NCBICHM1_1
Vamp8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39672,362,204 - 72,367,650 (-)NCBIGRCm39mm39
GRCm38672,385,221 - 72,390,667 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl672,385,223 - 72,390,703 (-)EnsemblGRCm38mm10GRCm38
MGSCv37672,335,215 - 72,340,661 (-)NCBIGRCm37mm9NCBIm37
MGSCv36672,314,732 - 72,320,090 (-)NCBImm8
Celera674,475,546 - 74,480,987 (-)NCBICelera
Cytogenetic Map6C1NCBI
cM Map632.27NCBI
Vamp8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24104,442,383 - 104,452,884 (-)NCBI
Rnor_6.0 Ensembl4100,250,301 - 100,252,755 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04100,250,301 - 100,252,756 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04165,020,594 - 165,023,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44105,692,451 - 105,694,908 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14105,936,931 - 105,939,387 (-)NCBI
Celera493,595,511 - 93,597,967 (-)NCBICelera
Cytogenetic Map4q31NCBI
Vamp8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554241,923,092 - 1,926,728 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554241,922,830 - 1,926,844 (-)NCBIChiLan1.0ChiLan1.0
VAMP8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A87,180,681 - 87,185,195 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A87,180,681 - 87,185,195 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A85,627,678 - 85,632,205 (+)NCBIMhudiblu_PPA_v0panPan3
VAMP8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1739,497,785 - 39,501,739 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11739,497,628 - 39,501,734 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Vamp8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367121,688,126 - 1,689,742 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAMP8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1359,187,900 - 59,193,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2362,249,017 - 62,254,147 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VAMP8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11421,575,057 - 21,580,054 (-)NCBI
ChlSab1.1 Ensembl1421,575,161 - 21,579,820 (-)Ensembl
Vamp8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474917,558,429 - 17,562,765 (-)NCBI

Position Markers
D2S2607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37285,808,692 - 85,809,028UniSTSGRCh37
Build 36285,662,203 - 85,662,539RGDNCBI36
Celera285,636,976 - 85,637,312RGD
Cytogenetic Map2p12-p11.2UniSTS
HuRef285,705,865 - 85,706,201UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH98261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37285,808,692 - 85,808,820UniSTSGRCh37
Build 36285,662,203 - 85,662,331RGDNCBI36
Celera285,636,976 - 85,637,104RGD
Cytogenetic Map2p12-p11.2UniSTS
HuRef285,705,865 - 85,705,993UniSTS
GeneMap99-GB4 RH Map2292.55UniSTS
G59843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37285,808,798 - 85,809,003UniSTSGRCh37
Build 36285,662,309 - 85,662,514RGDNCBI36
Celera285,637,082 - 85,637,287RGD
Cytogenetic Map2p12-p11.2UniSTS
HuRef285,705,971 - 85,706,176UniSTS
TNG Radiation Hybrid Map253778.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1015
Count of miRNA genes:320
Interacting mature miRNAs:345
Transcripts:ENST00000263864, ENST00000409760, ENST00000432071
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 2 10 2 3 59 10
Medium 2291 2165 1700 620 1928 461 3512 1090 1516 411 1283 1542 174 1 1202 1989 6 2
Low 147 826 22 2 12 2 839 1104 2211 3 117 56 1 2 799
Below cutoff 1 1 1 5 3 7 1 1 5

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000263864   ⟹   ENSP00000263864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl285,577,586 - 85,582,031 (+)Ensembl
RefSeq Acc Id: ENST00000409760   ⟹   ENSP00000387094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl285,577,593 - 85,582,031 (+)Ensembl
RefSeq Acc Id: ENST00000432071   ⟹   ENSP00000407984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl285,561,562 - 85,581,997 (+)Ensembl
RefSeq Acc Id: NM_003761   ⟹   NP_003752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38285,577,586 - 85,582,031 (+)NCBI
GRCh37285,804,614 - 85,809,156 (+)ENTREZGENE
Build 36285,658,228 - 85,662,665 (+)NCBI Archive
HuRef285,701,916 - 85,706,329 (+)ENTREZGENE
CHM1_1285,734,420 - 85,738,962 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005170   ⟹   XP_016860659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38285,577,535 - 85,582,031 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003752   ⟸   NM_003761
- UniProtKB: Q9BV40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860659   ⟸   XM_017005170
- Peptide Label: isoform X1
- UniProtKB: B8ZZT4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407984   ⟸   ENST00000432071
RefSeq Acc Id: ENSP00000387094   ⟸   ENST00000409760
RefSeq Acc Id: ENSP00000263864   ⟸   ENST00000263864
Promoters
RGD ID:6860896
Promoter ID:EPDNEW_H3613
Type:initiation region
Name:VAMP8_1
Description:vesicle associated membrane protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38285,577,586 - 85,577,646EPDNEW
RGD ID:6798432
Promoter ID:HG_KWN:33554
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409760,   OTTHUMT00000252498
Position:
Human AssemblyChrPosition (strand)Source
Build 36285,658,066 - 85,658,566 (+)MPROMDB
RGD ID:6852462
Promoter ID:EP74040
Type:initiation region
Name:HS_VAMP8
Description:Vesicle-associated membrane protein 8 (endobrevin).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36285,658,220 - 85,658,280EPD
RGD ID:6811996
Promoter ID:HG_ACW:44858
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:VAMP8ANDVAMP5.FAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36285,659,096 - 85,659,596 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 copy number gain See cases [RCV000134786] Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 copy number loss See cases [RCV000141948] Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3 copy number gain Ductal breast carcinoma [RCV000207275] Chr2:85598271..85843453 [GRCh37]
Chr2:2p11.2
uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3 copy number gain not provided [RCV000682150] Chr2:82517612..86262705 [GRCh37]
Chr2:2p12-11.2
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1 copy number loss not provided [RCV000846587] Chr2:77907114..87330965 [GRCh37]
Chr2:2p12-11.2
pathogenic
GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3 copy number gain not provided [RCV001259609] Chr2:85786006..86559358 [GRCh37]
Chr2:2p11.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12647 AgrOrtholog
COSMIC VAMP8 COSMIC
Ensembl Genes ENSG00000118640 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263864 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387094 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000407984 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263864 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409760 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000432071 UniProtKB/TrEMBL
GTEx ENSG00000118640 GTEx
HGNC ID HGNC:12647 ENTREZGENE
Human Proteome Map VAMP8 Human Proteome Map
InterPro Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin/VAMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8673 UniProtKB/Swiss-Prot
NCBI Gene 8673 ENTREZGENE
OMIM 603177 OMIM
PANTHER PTHR45701 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37271 PharmGKB
PIRSF Synaptobrevin_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS SYNAPTOBREVN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SYNAPTOBREVIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B8ZZT4 ENTREZGENE, UniProtKB/TrEMBL
  C9JXZ5_HUMAN UniProtKB/TrEMBL
  Q9BV40 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O60625 UniProtKB/Swiss-Prot
  Q53SP9 UniProtKB/Swiss-Prot
  Q6IB09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 VAMP8  vesicle associated membrane protein 8    vesicle-associated membrane protein 8  Symbol and/or name change 5135510 APPROVED
2012-10-23 VAMP8  vesicle-associated membrane protein 8    vesicle-associated membrane protein 8 (endobrevin)  Symbol and/or name change 5135510 APPROVED