Gene Gene information from NCBI Gene database.
Entrez ID 9751
Gene name Syntaphilin
Gene symbol SNPH
Synonyms (NCBI Gene)
-
Chromosome 20
Chromosome location 20p13
Summary Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin
miRNA miRNA information provided by mirtarbase database.
171
miRTarBase ID miRNA Experiments Reference
MIRT019920 hsa-miR-375 Microarray 20215506
MIRT050355 hsa-miR-25-3p CLASH 23622248
MIRT1375697 hsa-miR-1193 CLIP-seq
MIRT1375698 hsa-miR-1207-5p CLIP-seq
MIRT1375699 hsa-miR-1245b-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IDA 15459722
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005881 Component Cytoplasmic microtubule IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604942 15931 ENSG00000101298
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15079
Protein name Syntaphilin
Protein function Inhibits SNARE complex formation by absorbing free STX1A.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15290 Syntaphilin 18 333 Golgi-localised syntaxin-1-binding clamp Family
Tissue specificity TISSUE SPECIFICITY: Brain specific. Found in synapses. {ECO:0000269|PubMed:10707983}.
Sequence
Sequence length 494
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THROMBOCYTOPENIC PURPURA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28472658, 28812939
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37192718 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 31079810
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27991488, 28891816
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28891816, 29898993
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 31079810
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 31079810 Associate
★☆☆☆☆
Found in Text Mining only