Gene Gene information from NCBI Gene database.
Entrez ID 116841
Gene name Synaptosome associated protein 47
Gene symbol SNAP47
Synonyms (NCBI Gene)
C1orf142ESFI5812HEL-S-290HEL170SNAP-47SVAP1
Chromosome 1
Chromosome location 1q42.13
miRNA miRNA information provided by mirtarbase database.
260
miRTarBase ID miRNA Experiments Reference
MIRT646245 hsa-miR-302b-5p HITS-CLIP 23824327
MIRT646244 hsa-miR-302d-5p HITS-CLIP 23824327
MIRT646243 hsa-miR-627-3p HITS-CLIP 23824327
MIRT646242 hsa-miR-4312 HITS-CLIP 23824327
MIRT646241 hsa-miR-578 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005484 Function SNAP receptor activity IBA
GO:0005515 Function Protein binding IPI 19546860, 22046132, 25416956, 26359495, 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
GO:0006887 Process Exocytosis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619659 30669 ENSG00000143740
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SQN1
Protein name Synaptosomal-associated protein 47 (SNAP-47) (Epididymis luminal protein 170) (Synaptosomal-associated 47 kDa protein)
Protein function Plays a role in intracellular membrane fusion.
Family and domains
Sequence
MRAARRGLHCAGAERPRRRGRLWDSSGVPQRQKRPGPWRTQTQEQMSRDVCIHTWPCTYY
LEPKRRWVTGQLSLTSLSLRFMTDSTGEILVSFPLSSIVEIKKEASHFIFSSITILEKGH
AKHWFSSLRPSRNVVFSIIEHFWRELLLSQPGAVADASVPRTRGEELTGLMAGSQKRLED
TARVLHHQGQQLDSVMRGLDKMESDLEVADRLLTELESPAWWPFSSKLWKTPPETKPRED
VSMTSCEPFGKEGILIKIPAVISHRTESHVKPGRLTVLVSGLEIHDSSSLLMHRFEREDV
DDIKVHSPYEISIRQRFIGKPDMAYRLISAKMPEVIPILEVQFSKKMELLEDALVLRSAR
TSSPAEKSCSVWHAASGLMGRTLHREPPAGDQEGTALHLQTSLPALSEADTQELTQILRR
MKGLALEAESELERQDEALDGVAAAVDRATLTIDKHNRRMKRLT
Sequence length 464
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Likely benign ClinVar
★★☆☆☆
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
Cognition Disorders Cognition disorder Pubtator 29324989 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26912327
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26912327 Inhibit
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 29324989 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30022055
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30022055
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic retinopathy Pubtator 29392528 Associate
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 30022055
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32129936 Associate
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 22373659
★☆☆☆☆
Found in Text Mining only