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
GO:0017075 Function Syntaxin-1 binding IBA 21873635
GO:0030285 Component Integral component of synaptic vesicle membrane IEA
GO:0030672 Component Synaptic vesicle membrane IBA 21873635
GO:0043005 Component Neuron projection 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20852631
Hypoplastic left heart syndrome HYPOPLASTIC LEFT HEART SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2 rs1554284604, rs1843006535 25138779
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
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