Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9342
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptosome associated protein 29
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNAP29
Synonyms (NCBI Gene) Gene synonyms aliases
CEDNIK, SNAP-29
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CEDNIK
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000421 Component Autophagosome membrane IEA
GO:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 23217709, 25416956, 25419848, 26359495, 28514442, 30833792, 31806350, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604202 11133 ENSG00000099940
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cednik syndrome Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, CEDNIK syndrome rs387907363, rs869312906, rs886041240, rs751575036, rs1064795236 21073448, 25958742, 15968592
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Associations from Text Mining
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