Gene Gene information from NCBI Gene database.
Entrez ID 63908
Gene name NSF attachment protein beta
Gene symbol NAPB
Synonyms (NCBI Gene)
DEE107SNAP-BETASNAPB
Chromosome 20
Chromosome location 20p11.21
Summary This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gen
miRNA miRNA information provided by mirtarbase database.
413
miRTarBase ID miRNA Experiments Reference
MIRT727114 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT727113 hsa-miR-19b-3p HITS-CLIP 22473208
MIRT1173801 hsa-miR-106a CLIP-seq
MIRT1173802 hsa-miR-106b CLIP-seq
MIRT1173803 hsa-miR-1206 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005483 Function Soluble NSF attachment protein activity IBA
GO:0005515 Function Protein binding IPI 21516116, 24722188, 25416956, 29892012, 31515488, 32296183, 33961781
GO:0006886 Process Intracellular protein transport IBA
GO:0006886 Process Intracellular protein transport IEA
GO:0010807 Process Regulation of synaptic vesicle priming IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611270 15751 ENSG00000125814
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H115
Protein name Beta-soluble NSF attachment protein (SNAP-beta) (N-ethylmaleimide-sensitive factor attachment protein beta)
Protein function Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14938 SNAP 8 288 Domain
Sequence
Sequence length 298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy-107 Pathogenic rs876661300, rs2515069712, rs1984959750 RCV002283468
RCV003314460
RCV002283536
★★★★☆
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
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 Disgenet, HPO
Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1 Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder 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
Autism Spectrum Disorder Autism Pubtator 36272305 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 36272305, 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Cohen syndrome Cohen syndrome Pubtator 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 36272305, 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 26235277
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 36272305, 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Epileptic encephalopathy Epileptic encephalopathy BEFREE 26235277
★☆☆☆☆
Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3 Developmental and epileptic encephalopathy Pubtator 36780047 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 33423377 Associate
★☆☆☆☆
Found in Text Mining only