SYP (synaptophysin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6855
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptophysin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYP
Synonyms (NCBI Gene) Gene synonyms aliases
MRX96, MRXSYP, XLID96
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compart
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs137852561 C>G,T Pathogenic Coding sequence variant, missense variant
rs139475570 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs145093168 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs201427270 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(70)
miRTarBase ID miRNA Experiments Reference
MIRT017945 hsa-miR-335-5p Microarray 18185580
MIRT520838 hsa-miR-410-3p HITS-CLIP 21572407
MIRT520840 hsa-miR-374a-5p HITS-CLIP 21572407
MIRT520839 hsa-miR-374b-5p HITS-CLIP 21572407
MIRT520838 hsa-miR-410-3p HITS-CLIP 21572407
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
PKNOX1 Activation 20864515
SP1 Unknown 12492469
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17500595, 32296183, 32814053
GO:0006897 Process Endocytosis ISS
GO:0008021 Component Synaptic vesicle IEA
GO:0008021 Component Synaptic vesicle ISS
GO:0010807 Process Regulation of synaptic vesicle priming IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
313475 11506 ENSG00000102003
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID P08247
Protein name Synaptophysin (Major synaptic vesicle protein p38)
Protein function Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 21 → 221 Membrane-associating domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, with expression in the hippocampus, the neuropil in the dentate gyrus, where expression is higher in the outer half of the molecular layer than in the inner half, and in the neuropil of CA4 and CA3 (PubMed:88385
Sequence
Sequence length 313
Interactions View interactions
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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 Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 96 rs2147483647, rs137852561 N/A
Show/Hide Unknown Diseases (1)
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
Mental retardation non-syndromic X-linked intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (84)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 31352437
Adenocarcinoma Associate 33933015
Adrenocortical Adenoma Associate 31352437
Adrenocortical Carcinoma Associate 31352437
Adrenocortical Carcinoma Stimulate 35921917
Alzheimer Disease Inhibit 22760556, 28598851
Alzheimer Disease Associate 22832605, 24927707, 30193587
Ataxia Telangiectasia Inhibit 19284608
Autism Spectrum Disorder Associate 32193494
Bipolar Disorder Inhibit 19945534