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(8)
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding TAS 15217342
GO:0007269 Process Neurotransmitter secretion IBA 21873635
GO:0008021 Component Synaptic vesicle TAS 9539796
GO:0014069 Component Postsynaptic density IEA
GO:0030672 Component Synaptic vesicle membrane IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 24487271
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)		 20385819, 23455636, 20385826, 21665990, 26691988
Schizophrenia Schizophrenia, Schizophrenia and related disorders rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 19766700, 16511335, 17366345, 19102774, 20050925
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Fundus dystrophy, pseudoinflammatory, of sorsby FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY ClinVar
Intracranial Aneurysm Intracranial Aneurysm GWAS
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining
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