Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132204
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptoporin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYNPR
Synonyms (NCBI Gene) Gene synonyms aliases
SPO
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017484 hsa-miR-335-5p Microarray 18185580
MIRT052365 hsa-let-7a-5p CLASH 23622248
MIRT050282 hsa-miR-25-3p CLASH 23622248
MIRT049284 hsa-miR-92a-3p CLASH 23622248
MIRT037207 hsa-miR-877-5p CLASH 23622248
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, 32296183, 33961781
GO:0008021 Component Synaptic vesicle IEA
GO:0016020 Component Membrane IEA
GO:0030672 Component Synaptic vesicle membrane IBA
GO:0030672 Component Synaptic vesicle membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8TBG9
Protein name Synaptoporin
Protein function Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 2 196 Membrane-associating domain Domain
Sequence
Sequence length 265
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)
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
Glioblastoma Glioblastoma N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 31638248
Bipolar Disorder Associate 32339108
Carcinoma Non Small Cell Lung Associate 31638248
Left sided gallbladder Associate 25138779
Leukoencephalopathies Associate 22745009
Neoplasms Associate 33157921
Neuralgia Associate 39674387
Pain Associate 39674387
Psychotic Disorders Associate 32339108
Thyroid Cancer Papillary Associate 33157921