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Aliases for SNAP29 Gene

Aliases for SNAP29 Gene

  • Synaptosome Associated Protein 29kDa 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
  • Synaptosomal-Associated Protein, 29kD 2 3
  • SNAP-29 3 4
  • 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 29kDa) is a Protein Coding gene. Diseases associated with SNAP29 include cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome and muscular dystrophy-dystroglycanopathy , type a, 5. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde 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

Promoters for SNAP29 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNAP29 on UCSC Golden Path with GeneCards custom track

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).

    Three dimensional structures from OCA and Proteopedia for SNAP29 Gene

neXtProt entry for SNAP29 Gene

Proteomics data for SNAP29 Gene at MOPED

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:

Antibody Products

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.
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SNAP29 Gene COMPARTMENTS Subcellular localization image for SNAP29 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
golgi apparatus 4
vacuole 4
nucleus 3
endosome 1
lysosome 1

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:0098793 presynapse IBA --
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: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

Drugs & Compounds for SNAP29 Gene

No Compound Related Data Available

Transcripts for SNAP29 Gene

mRNA/cDNA for SNAP29 Gene

Unigene Clusters for SNAP29 Gene

Synaptosomal-associated protein, 29kDa:
Representative Sequences:

Inhibitory RNA 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 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, MOPED, and MaxQB for SNAP29 Gene



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

Protein tissue co-expression partners for SNAP29 Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
SNAP29 35
  • 99.74 (n)
  • 99.61 (a)
cow
(Bos Taurus)
Mammalia SNAP29 35
  • 81.14 (n)
  • 81.78 (a)
SNAP29 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNAP29 36
  • 88 (a)
OneToOne
SNAP29 35
  • 87.6 (n)
  • 87.6 (a)
mouse
(Mus musculus)
Mammalia Snap29 36
  • 83 (a)
OneToOne
Snap29 16
Snap29 35
  • 84.24 (n)
  • 83.72 (a)
oppossum
(Monodelphis domestica)
Mammalia SNAP29 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snap29 35
  • 84.31 (n)
  • 85.49 (a)
chicken
(Gallus gallus)
Aves SNAP29 35
  • 67.89 (n)
  • 64.63 (a)
SNAP29 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNAP29 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia snap29-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75781 35
snap29 35
  • 63.04 (n)
  • 56.85 (a)
zebrafish
(Danio rerio)
Actinopterygii snap29 36
  • 46 (a)
OneToOne
Dr.18629 35
snap29 35
  • 62.07 (n)
  • 54.33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011135 35
  • 46.3 (n)
  • 34.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta usnp 36
  • 25 (a)
OneToOne
usnp 35
  • 47.4 (n)
  • 35.44 (a)
worm
(Caenorhabditis elegans)
Secernentea snap-29 35
  • 40.76 (n)
  • 29.41 (a)
snap-29 36
  • 24 (a)
OneToOne
Species with no ortholog for SNAP29:
  • 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
rs11577 -- 20,889,399(+) CCACT(G/T)GTTAG utr-variant-3-prime
rs25188 -- 20,866,381(+) AGAGA(G/T)GGAAC intron-variant
rs78649 -- 20,866,363(+) ACACT(C/G)CCTTG intron-variant
rs95944 -- 20,881,443(+) acacg(A/C)ctgta intron-variant
rs165598 -- 20,862,407(+) ACAGG(A/C)AAATA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv436864 CNV Insertion 17901297
nsv914390 CNV Gain 21882294
nsv523162 CNV Loss 19592680
esv2678175 CNV Deletion 23128226
nsv914418 CNV Gain 21882294
nsv834140 CNV Loss 17160897
nsv914419 CNV Gain 21882294
nsv834141 CNV Loss 17160897
esv2724009 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
SNAP29
Human Gene Mutation Database (HGMD)
SNAP29

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

Disorders for SNAP29 Gene

MalaCards: The human disease database

(8) 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
muscular dystrophy-dystroglycanopathy , type a, 5
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5
palmoplantar keratoderma and woolly hair
  • ppkwh
alcohol-related birth defect
  • fetal alcohol syndrome
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
- 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 67
  2. SNAP-29: a general SNARE protein that inhibits SNARE disassembly and is implicated in synaptic transmission. (PMID: 11707603) Su Q. … Sheng Z.H. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 23
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for SNAP29 Gene

Sources for SNAP29 Gene

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