Gene Gene information from NCBI Gene database.
Entrez ID 9145
Gene name Synaptogyrin 1
Gene symbol SYNGR1
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q13.1
Summary 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.
643
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603925 11498 ENSG00000100321
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM 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
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31699905 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30229893
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30229893
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24532676, 26993500 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 16215643, 17049558, 19665806
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder LHGDN 16215643
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 16215643, 19665806
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Depressive disorder Mental Depression BEFREE 30229893
★☆☆☆☆
Found in Text Mining only