Gene Gene information from NCBI Gene database.
Entrez ID 9144
Gene name Synaptogyrin 2
Gene symbol SYNGR2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may
miRNA miRNA information provided by mirtarbase database.
461
miRTarBase ID miRNA Experiments Reference
MIRT021478 hsa-miR-9-5p Sequencing 20371350
MIRT002717 hsa-miR-124-3p Microarray 15685193
MIRT002717 hsa-miR-124-3p Microarray 18668037
MIRT027625 hsa-miR-98-5p Microarray 19088304
MIRT027906 hsa-miR-96-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005811 Component Lipid droplet IEA
GO:0008021 Component Synaptic vesicle IEA
GO:0016020 Component Membrane IEA
GO:0016020 Component Membrane NAS 9760194
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603926 11499 ENSG00000108639
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43760
Protein name Synaptogyrin-2 (Cellugyrin)
Protein function May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a r
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 20 165 Membrane-associating domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; low expression in brain. {ECO:0000269|PubMed:9760194}.
Sequence
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA 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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 26732429
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37170221 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 26732429
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 16360390
★☆☆☆☆
Found in Text Mining only