Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9145
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptogyrin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNGR1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being re
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024495 hsa-miR-215-5p Microarray 19074876
MIRT026210 hsa-miR-192-5p Microarray 19074876
MIRT036022 hsa-miR-1301-3p CLASH 23622248
MIRT652943 hsa-miR-4759 HITS-CLIP 23824327
MIRT652944 hsa-miR-3169 HITS-CLIP 23824327
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, 25910212, 32296183
GO:0005886 Component Plasma membrane TAS
GO:0006605 Process Protein targeting IEA
GO:0008021 Component Synaptic vesicle IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603925 11498 ENSG00000100321
Protein
UniProt ID O43759
Protein name Synaptogyrin-1
Protein function May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the re
PDB 8A6M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 20 167 Membrane-associating domain Domain
Sequence
Sequence length 233
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
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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
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Bipolar Disorder bipolar disorder N/A N/A GenCC
Inflammatory Bowel Disease Inflammatory bowel disease, Inflammatory bowel disease (MTAG) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 31699905
Arthritis Rheumatoid Associate 24532676, 26993500
Inflammation Associate 39953635
Liver Cirrhosis Biliary Associate 25690649, 26993500, 28425483
Lupus Erythematosus Systemic Associate 26808113
Ovarian Neoplasms Associate 30557369
Sjogren's Syndrome Associate 35896530
Squamous Cell Carcinoma of Head and Neck Associate 32155325
Stroke Associate 39953635