Gene Gene information from NCBI Gene database.
Entrez ID 9342
Gene name Synaptosome associated protein 29
Gene symbol SNAP29
Synonyms (NCBI Gene)
CEDNIKSNAP-29
Chromosome 22
Chromosome location 22q11.21
Summary This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs387907363 ->A Pathogenic Frameshift variant, coding sequence variant
rs751575036 ->G Uncertain-significance, pathogenic Frameshift variant, coding sequence variant
rs1064795236 G>C,T Likely-pathogenic Coding sequence variant, stop gained, missense variant
rs1315355162 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
549
miRTarBase ID miRNA Experiments Reference
MIRT001499 hsa-miR-155-5p pSILAC 18668040
MIRT001499 hsa-miR-155-5p Proteomics;Other 18668040
MIRT025633 hsa-miR-7-5p Microarray 19073608
MIRT041037 hsa-miR-505-3p CLASH 23622248
MIRT696964 hsa-miR-122-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000421 Component Autophagosome membrane IEA
GO:0005484 Function SNAP receptor activity IBA
GO:0005484 Function SNAP receptor activity TAS 10839363
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604202 11133 ENSG00000099940
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95721
Protein name Synaptosomal-associated protein 29 (SNAP-29) (Soluble 29 kDa NSF attachment protein) (Vesicle-membrane fusion protein SNAP-29)
Protein function SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four al
PDB 4WY4 , 7BV6
Family and domains
Tissue specificity TISSUE SPECIFICITY: Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas. {ECO:0000269|PubMed:9852078}.
Sequence
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAAST
SRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLV
NYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGA
GSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL
Sequence length 258
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport
Autophagy - animal
  Neutrophil degranulation
Intra-Golgi traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
174
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CEDNIK syndrome Likely pathogenic; Pathogenic rs775445020, rs869312906, rs886041240, rs751575036, rs1928559435, rs1064795236, rs387907363 RCV001806375
RCV000210470
RCV002251740
RCV000778648
RCV005030218
RCV002251743
RCV000043503
Hypomyelinating leukodystrophy 2 Likely pathogenic; Pathogenic rs886041240, rs751575036 RCV000454300
RCV000454232
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SNAP29-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs137925620, rs752875049, rs151146863, rs1569111950, rs956409946, rs141934766, rs149837436 RCV003931314
RCV003898577
RCV003929927
RCV003969390
RCV003962180
RCV003960183
RCV003923138
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Allanson Pantzar McLeod syndrome Associate 15968592, 23231787
Atrial Fibrillation Associate 36226239
Autism Spectrum Disorder Associate 31500805
Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome Associate 15968592, 23231787
COVID 19 Associate 35670302
DiGeorge Syndrome Associate 23231787
Glycogen Storage Disease Type II Associate 33799647
Hereditary renal agenesis Associate 33824538
Hypertelorism with esophageal abnormality and hypospadias Associate 23231787
Ichthyosis Associate 15968592, 23231787