Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9570
Gene name Gene Name - the full gene name approved by the HGNC.
Golgi SNAP receptor complex member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GOSR2
Synonyms (NCBI Gene) Gene synonyms aliases
Bos1, EPM6, GS27, MYOS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EPM6, MYOS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047702 hsa-miR-10a-5p CLASH 23622248
MIRT609208 hsa-miR-8485 HITS-CLIP 19536157
MIRT609207 hsa-miR-603 HITS-CLIP 19536157
MIRT609206 hsa-miR-216b-3p HITS-CLIP 19536157
MIRT617189 hsa-miR-6892-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 9349823
GO:0000139 Component Golgi membrane TAS
GO:0000149 Function SNARE binding IBA 21873635
GO:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 18843296, 25416956, 29568061, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604027 4431 ENSG00000108433
Protein
UniProt ID O14653
Protein name Golgi SNAP receptor complex member 2 (27 kDa Golgi SNARE protein) (Membrin)
Protein function Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
PDB 3EG9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12352 V-SNARE_C 121 186 Domain
Sequence
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPP
NKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPM
DESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMR
LIEKRA
FQDKYFMIGGMLLTCVVMFLVVQYLT
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  SNARE interactions in vesicular transport   COPII-mediated vesicle transport
XBP1(S) activates chaperone genes
Cargo concentration in the ER
COPI-mediated anterograde transport
Intra-Golgi traffic
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Action myoclonus-renal failure syndrome Action Myoclonus-Renal Failure Syndrome rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
29892015
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Dentatorubral pallidoluysian atrophy Dentatorubral-Pallidoluysian Atrophy rs60216939
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 29892015 ClinVar
Muscular dystrophy muscular dystrophy, congenital, with or without seizures GenCC
Progressive Myoclonic Epilepsy progressive myoclonic epilepsy type 6 GenCC
Ischemic Stroke Ischemic Stroke GWAS
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 21549339, 32105965
Carcinoma Hepatocellular Associate 37457742
Developmental Disabilities Associate 37895210
Disease Associate 33125279
Dystonia Associate 37895210
Epilepsies Myoclonic Associate 21549339, 28264719, 37895210
Heart Defects Congenital Associate 33463545
Heart Diseases Associate 33463545
Hypertension Associate 19057520
Mitral Valve Insufficiency Associate 35132965