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Aliases for SNAP29 Gene

Aliases for SNAP29 Gene

  • Synaptosome Associated Protein 29 2 3 5
  • Soluble 29 KDa NSF Attachment Protein 2 3 4
  • Vesicle-Membrane Fusion Protein SNAP-29 3 4
  • Synaptosomal-Associated Protein, 29kDa 2 3
  • SNAP-29 3 4
  • Synaptosomal-Associated Protein, 29kD 3
  • Synaptosome Associated Protein 29kDa 3
  • Synaptosomal-Associated Protein 29 3
  • CEDNIK 3

External Ids for SNAP29 Gene

Previous GeneCards Identifiers for SNAP29 Gene

  • GC22P017912
  • GC22P019537
  • GC22P021213
  • GC22P004481

Summaries for SNAP29 Gene

Entrez Gene Summary for SNAP29 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 docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNAP29 Gene

SNAP29 (Synaptosome Associated Protein 29) is a Protein Coding gene. Diseases associated with SNAP29 include Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome and Vici Syndrome. Among its related pathways are Immune System and Vesicle-mediated transport. GO annotations related to this gene include syntaxin binding and SNAP receptor activity.

UniProtKB/Swiss-Prot for SNAP29 Gene

  • 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 alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions.

Gene Wiki entry for SNAP29 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNAP29 Gene

Genomics for SNAP29 Gene

Regulatory Elements for SNAP29 Gene

Enhancers for SNAP29 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F020748 1.6 FANTOM5 Ensembl ENCODE 41.4 -108.7 -108689 3.5 ATF1 PKNOX1 WRNIP1 ZNF2 GLIS2 ZNF143 ZNF207 FOS KLF13 ZNF263 SERPIND1 SNAP29 PI4KA TMEM191A
GH22F020883 1.4 Ensembl ENCODE 40.1 +26.0 25997 3.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YBX1 SNAP29 SERPIND1 PI4KA CRKL DGCR8 ABHD17AP4 SCARF2 RPL8P5 CCDC116 YDJC
GH22F020775 1.6 FANTOM5 Ensembl ENCODE 31 -81.5 -81494 3.3 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS KLF13 SP5 SERPIND1 SNAP29 THAP7 THAP7-AS1 LOC100420177 ABHD17AP4 PI4KA DGCR8
GH22F020916 1.1 ENCODE 42 +59.9 59914 5.7 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SNAP29 SERPIND1 PI4KA ABHD17AP4 AIFM3 LZTR1 CCDC116 BCRP2 CRKL PIR47432
GH22F020835 0.9 Ensembl ENCODE 43.8 -22.7 -22692 1.9 YBX3 POLR2A L3MBTL2 GLIS1 MAX BRF2 MYC SPI1 SNAP29 SERPIND1 PI4KA CRKL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNAP29 on UCSC Golden Path with GeneCards custom track

Promoters for SNAP29 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084502 -83 2601 PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Location for SNAP29 Gene

Chromosome:
22
Start:
20,858,983 bp from pter
End:
20,891,218 bp from pter
Size:
32,236 bases
Orientation:
Plus strand

Genomic View for SNAP29 Gene

Genes around SNAP29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAP29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAP29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAP29 Gene

Proteins for SNAP29 Gene

  • Protein details for SNAP29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95721-SNP29_HUMAN
    Recommended name:
    Synaptosomal-associated protein 29
    Protein Accession:
    O95721

    Protein attributes for SNAP29 Gene

    Size:
    258 amino acids
    Molecular mass:
    28970 Da
    Quaternary structure:
    • Forms a SNARE complex, composed of VAMP8, SNAP29 and STX17, involved in fusion of autophagosome with lysosome (PubMed:23217709, PubMed:25686604). Interacts with multiple syntaxins including STX6 (By similarity). Interacts with TSSC1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SNAP29 Gene

neXtProt entry for SNAP29 Gene

Post-translational modifications for SNAP29 Gene

  • Ubiquitination at Lys 113 and Lys 126
  • Modification sites at PhosphoSitePlus

Other Protein References for SNAP29 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SNAP29 Gene

Domains & Families for SNAP29 Gene

Gene Families for SNAP29 Gene

Protein Domains for SNAP29 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNAP29 Gene

Graphical View of Domain Structure for InterPro Entry

O95721

UniProtKB/Swiss-Prot:

SNP29_HUMAN :
  • Contains 1 t-SNARE coiled-coil homology domain.
  • Belongs to the SNAP-25 family.
Domain:
  • Contains 1 t-SNARE coiled-coil homology domain.
Family:
  • Belongs to the SNAP-25 family.
genes like me logo Genes that share domains with SNAP29: view

Function for SNAP29 Gene

Molecular function for SNAP29 Gene

GENATLAS Biochemistry:
synaptosomal-associated protein
UniProtKB/Swiss-Prot 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 alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions.

Gene Ontology (GO) - Molecular Function for SNAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity TAS 10839363
GO:0005515 protein binding IPI 25416956
GO:0019905 syntaxin binding IBA --
genes like me logo Genes that share ontologies with SNAP29: view
genes like me logo Genes that share phenotypes with SNAP29: view

Human Phenotype Ontology for SNAP29 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNAP29 Gene

MGI Knock Outs for SNAP29:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNAP29 Gene

Localization for SNAP29 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAP29 Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Cytoplasmic vesicle, autophagosome membrane; Peripheral membrane protein. Cell projection, cilium membrane; Peripheral membrane protein. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic. Localizes to the ciliary pocket from where the cilium protrudes. {ECO:0000269 PubMed:23217709, ECO:0000269 PubMed:25686250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNAP29 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
lysosome 5
golgi apparatus 5
endosome 2

Gene Ontology (GO) - Cellular Components for SNAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0000421 autophagosome membrane IEA --
GO:0005737 cytoplasm IEA,IDA 25468996
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with SNAP29: view

Pathways & Interactions for SNAP29 Gene

genes like me logo Genes that share pathways with SNAP29: view

Pathways by source for SNAP29 Gene

Gene Ontology (GO) - Biological Process for SNAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006887 exocytosis TAS 10839363
GO:0006903 vesicle targeting TAS 9852078
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SNAP29: view

No data available for SIGNOR curated interactions for SNAP29 Gene

Transcripts for SNAP29 Gene

mRNA/cDNA for SNAP29 Gene

Unigene Clusters for SNAP29 Gene

Synaptosomal-associated protein, 29kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNAP29 Gene

No ASD Table

Relevant External Links for SNAP29 Gene

GeneLoc Exon Structure for
SNAP29
ECgene alternative splicing isoforms for
SNAP29

Expression for SNAP29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNAP29 Gene

Protein differential expression in normal tissues from HIPED for SNAP29 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.3) and Adrenal (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SNAP29 Gene



Protein tissue co-expression partners for SNAP29 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNAP29 Gene:

SNAP29

SOURCE GeneReport for Unigene cluster for SNAP29 Gene:

Hs.108002

mRNA Expression by UniProt/SwissProt for SNAP29 Gene:

O95721-SNP29_HUMAN
Tissue specificity: Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas.
genes like me logo Genes that share expression patterns with SNAP29: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SNAP29 Gene

Orthologs for SNAP29 Gene

This gene was present in the common ancestor of animals.

Orthologs for SNAP29 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNAP29 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia SNAP29 34 35
  • 87.6 (n)
rat
(Rattus norvegicus)
Mammalia Snap29 34
  • 84.31 (n)
mouse
(Mus musculus)
Mammalia Snap29 34 16 35
  • 84.24 (n)
cow
(Bos Taurus)
Mammalia SNAP29 34 35
  • 81.14 (n)
oppossum
(Monodelphis domestica)
Mammalia SNAP29 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNAP29 34 35
  • 67.89 (n)
lizard
(Anolis carolinensis)
Reptilia SNAP29 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snap29 34
  • 63.04 (n)
MGC75781 34
African clawed frog
(Xenopus laevis)
Amphibia snap29-prov 34
zebrafish
(Danio rerio)
Actinopterygii snap29 34 35
  • 62.07 (n)
Dr.18629 34
fruit fly
(Drosophila melanogaster)
Insecta usnp 34 35
  • 47.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011135 34
  • 46.3 (n)
worm
(Caenorhabditis elegans)
Secernentea snap-29 34 35
  • 40.76 (n)
Species where no ortholog for SNAP29 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNAP29 Gene

ENSEMBL:
Gene Tree for SNAP29 (if available)
TreeFam:
Gene Tree for SNAP29 (if available)

Paralogs for SNAP29 Gene

No data available for Paralogs for SNAP29 Gene

Variants for SNAP29 Gene

Sequence variations from dbSNP and Humsavar for SNAP29 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs387907363 Pathogenic 20,881,101(+) GGCCA(-/A)GCCAC reference, frameshift-variant
rs869312906 Pathogenic 20,859,333(+) TTGGG(-/G)TCGCC upstream-variant-2KB, reference, frameshift-variant
rs151146863 Likely benign 20,870,364(+) TCCTG(A/G)AGCGC reference, missense
rs116892729 Benign 20,881,101(+) AGGCC(A/G)GCCAC reference, missense
rs10483104 -- 20,866,445(+) GTCTA(C/T)TTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNAP29 Gene

Variant ID Type Subtype PubMed ID
nsv834141 CNV loss 17160897
nsv834140 CNV loss 17160897
nsv588305 CNV loss 21841781
nsv523162 CNV loss 19592680
nsv436864 CNV insertion 17901297
nsv1123577 CNV deletion 24896259
nsv1065617 CNV gain 25217958
nsv1056614 CNV loss 25217958
esv3893441 CNV gain+loss 25118596
esv2763693 CNV gain 21179565
esv2678175 CNV deletion 23128226
dgv7994n54 CNV gain 21841781
dgv7993n54 CNV gain 21841781
dgv4483n100 CNV gain 25217958

Variation tolerance for SNAP29 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNAP29 Gene

Human Gene Mutation Database (HGMD)
SNAP29
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAP29

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNAP29 Gene

Disorders for SNAP29 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SNAP29 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • cednik syndrome
vici syndrome
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
opitz gbbb syndrome, type ii
  • opitz-gbbb syndrome
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNP29_HUMAN
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) [MIM:609528]: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. {ECO:0000269 PubMed:15968592}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SNAP29

Genetic Association Database (GAD)
SNAP29
Human Genome Epidemiology (HuGE) Navigator
SNAP29
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNAP29
genes like me logo Genes that share disorders with SNAP29: view

No data available for Genatlas for SNAP29 Gene

Publications for SNAP29 Gene

  1. Three novel proteins of the syntaxin/SNAP-25 family. (PMID: 9852078) Steegmaier M. … Scheller R.H. (J. Biol. Chem. 1998) 2 3 4 64
  2. ATG14 promotes membrane tethering and fusion of autophagosomes to endolysosomes. (PMID: 25686604) Diao J. … Zhong Q. (Nature 2015) 3 4 64
  3. Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. (PMID: 25686250) Lu Q. … Westlake C.J. (Nat. Cell Biol. 2015) 3 4 64
  4. The hairpin-type tail-anchored SNARE syntaxin 17 targets to autophagosomes for fusion with endosomes/lysosomes. (PMID: 23217709) Itakura E. … Mizushima N. (Cell 2012) 3 4 64
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64

Products for SNAP29 Gene

Sources for SNAP29 Gene

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