Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9144
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptogyrin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNGR2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603926 11499 ENSG00000108639
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenocarcinoma Adenocarcinoma N/A N/A GWAS
Vitiligo Vitiligo N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 37170221
Neoplasms Associate 37170221