Gene Gene information from NCBI Gene database.
Entrez ID 9570
Gene name Golgi SNAP receptor complex member 2
Gene symbol GOSR2
Synonyms (NCBI Gene)
Bos1EPM6GS27MYOS
Chromosome 17
Chromosome location 17q21.32
Summary 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.
924
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 9349823
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000149 Function SNARE binding IBA
GO:0005484 Function SNAP receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604027 4431 ENSG00000108433
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colon adenocarcinoma Likely pathogenic; Pathogenic rs141554661 RCV005892300
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GOSR2-related disorder Likely pathogenic; Pathogenic rs141554661, rs746855352 RCV004689666
RCV003960021
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive Likely pathogenic rs879328855 RCV003226606
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy Pathogenic; Likely pathogenic rs387906881, rs746855352 RCV000509417
RCV000509134
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19057520
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 21549339, 32105965 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19057520
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Inclusion-Body Disease Inclusion-Body Disease CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Branchiootic syndrome Branchiootic Syndrome BEFREE 24803398
★☆☆☆☆
Found in Text Mining only
Bronchiolitis Obliterans Bronchiolitis Obliterans BEFREE 28245130
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37457742 Associate
★☆☆☆☆
Found in Text Mining only