SYN3 (synapsin III)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8224
Gene name Gene Name - the full gene name approved by the HGNC.
Synapsin III
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYN3
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.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptog
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1057519444 GG>AA Pathogenic Coding sequence variant, intron variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
miRTarBase ID miRNA Experiments Reference
MIRT495092 hsa-miR-186-3p PAR-CLIP 23708386
MIRT495090 hsa-miR-4792 PAR-CLIP 23708386
MIRT495091 hsa-miR-6807-5p PAR-CLIP 23708386
MIRT495092 hsa-miR-186-3p PAR-CLIP 23708386
MIRT495090 hsa-miR-4792 PAR-CLIP 23708386
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 33961781
GO:0005524 Function ATP binding IEA
GO:0005524 Function ATP binding TAS 15217342
GO:0007268 Process Chemical synaptic transmission IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602705 11496 ENSG00000185666
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O14994
Protein name Synapsin-3 (Synapsin III)
Protein function May be involved in the regulation of neurotransmitter release and synaptogenesis.
PDB 2P0A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10581 Synapsin_N 1 → 31 Synapsin N-terminal Domain
PF02078 Synapsin 89 → 191 Synapsin, N-terminal domain Domain
PF02750 Synapsin_C 193 → 395 Synapsin, ATP binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Neuron specific. Detected predominantly in brain.
Sequence 
MNFLRRRLSDSSFMANLPNGYMTDLQRPDSSTSSPASPAMERRHPQPLAASFSSPGSSLF
SSLSSAMKQAPQATSGLMEPPGPSTPIVQRPRILLVIDDAHTDWSKYFHGKKVNGEIEIR
VEQAEFSELNLAAYVTGGCMVDMQVVRNGTKVVSRSFKPDFILVRQHAYSMALGEDYRSL
VIGLQYGGLPAVNSLYSVYNFCSKPWVFSQLIKIFHSLGPEKFPLVEQTFFPNHKPMVTA
PHFPVVVKLGHAHAGMGKIKVENQLDFQDITSVVAMAKTYATTEAFIDSKYDIRIQKIGS
NYKAYMRTSISGNWKANTGSAMLEQVAMTERYRLWVDSCSEMFGGLDICAVKAVHSKDGR
DYIIEVMDSSMPLIGEHVEEDRQLMADLVVSKMSQLPMPGGTAPSPLRPWAPQIKSAKSP
GQAQLGPQLGQPQPRPPPQGGPRQAQSPQPQRSGSPSQQRLSPQGQQPLSPQSGSPQQQR
SPGSPQLSRASSGSSPNQASKPGATLASQPRPPVQGRSTSQQGEESKKPAPPHPHLNKSQ
SLTNSLSTSDTSQRGTPSEDEAKAETIRNLRKSFASLFSD
Sequence length 580
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Serotonin Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
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
Acne acne vulgaris N/A N/A GWAS
Benign Prostatic Hyperplasia Benign prostatic hyperplasia N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anxiety Associate 29225348
Autism Spectrum Disorder Associate 22543975
Disease Associate 24586301
Epilepsy Associate 22571925
Fatigue Stimulate 28834453
Glycogen Storage Disease Type II Associate 32979492
Macular Degeneration Associate 21906714, 23422939, 31583032, 33618707
Mental Disorders Associate 22571925
Non Muscle Invasive Bladder Neoplasms Inhibit 28834453
Osteoarthritis Knee Associate 26068512