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 locali... See more...

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
  • Synaptosomal-Associated Protein 29 3 4
  • SNAP-29 3 4
  • Synaptosomal-Associated Protein, 29kD 3
  • Synaptosome Associated Protein 29kDa 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 Leukodystrophy, Hypomyelinating, 2. Among its related pathways are Innate Immune System and Autophagy - animal. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNAP receptor activity. An important paralog of this gene is SNAP47.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SNAP29 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNAP29 Gene

Genomics for SNAP29 Gene

GeneHancer (GH) Regulatory Elements for SNAP29 Gene

Promoters and enhancers for SNAP29 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNAP29 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNAP29

Top Transcription factor binding sites by QIAGEN in the SNAP29 gene promoter:
  • ATF6
  • c-Myc
  • HNF-4alpha1
  • Max1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SNAP29 Gene

Genomic Locations for SNAP29 Gene
chr22:20,859,004-20,891,214
(GRCh38/hg38)
Size:
32,211 bases
Orientation:
Plus strand
chr22:21,213,271-21,245,506
(GRCh37/hg19)
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 EIPR1 (PubMed:27440922).

    Three dimensional structures from OCA and Proteopedia for SNAP29 Gene

neXtProt entry for SNAP29 Gene

Post-translational modifications for SNAP29 Gene

  • Ubiquitination at Lys113 and Lys126
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SNAP29 Gene

Blocks:
  • SNAP-25 family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNAP29 Gene

GenScript: Design optimal peptide antigens:
  • Synaptosomal-associated protein (C9JAF7_HUMAN)
  • Vesicle-membrane fusion protein SNAP-29 (SNP29_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95721

UniProtKB/Swiss-Prot:

SNP29_HUMAN :
  • Belongs to the SNAP-25 family.
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

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.
GENATLAS Biochemistry:
synaptosomal-associated protein

Gene Ontology (GO) - Molecular Function for SNAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 23217709
GO:0019905 syntaxin binding IBA 21873635
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:
  • Snap29 Snap29<tm1b(EUCOMM)Wtsi>
  • Snap29 Snap29<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
golgi apparatus 4
mitochondrion 2
endoplasmic reticulum 2
endosome 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

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:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 25468996
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

Gene Ontology (GO) - Biological Process for SNAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis TAS,IBA 21873635
GO:0006903 vesicle targeting TAS 9852078
GO:0006906 vesicle fusion IBA 21873635
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

Drugs & Compounds for SNAP29 Gene

No Compound Related Data Available

Transcripts for SNAP29 Gene

mRNA/cDNA for SNAP29 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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, MaxQB, and MOPED for SNAP29 Gene



Protein tissue co-expression partners for SNAP29 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SNAP29 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNAP29 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Abdomen:
  • abdominal wall
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
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 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNAP29 31 30
  • 87.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snap29 30
  • 84.31 (n)
mouse
(Mus musculus)
Mammalia Snap29 17 31 30
  • 84.24 (n)
cow
(Bos Taurus)
Mammalia SNAP29 31 30
  • 81.14 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNAP29 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNAP29 31 30
  • 67.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNAP29 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snap29 30
  • 63.04 (n)
MGC75781 30
African clawed frog
(Xenopus laevis)
Amphibia snap29-prov 30
zebrafish
(Danio rerio)
Actinopterygii snap29 31 30
  • 62.07 (n)
OneToOne
Dr.18629 30
fruit fly
(Drosophila melanogaster)
Insecta usnp 31 30
  • 47.4 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011135 30
  • 46.3 (n)
worm
(Caenorhabditis elegans)
Secernentea snap-29 31 30
  • 40.76 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for SNAP29: view image

Paralogs for SNAP29 Gene

Paralogs for SNAP29 Gene

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

Variants for SNAP29 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNAP29 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
709132 Likely Benign: not provided 20,887,669(+) C/T INTRON_VARIANT
711732 Likely Benign: not provided 20,859,146(+) C/T SYNONYMOUS_VARIANT
726290 Likely Benign: not provided 20,870,474(+) C/T SYNONYMOUS_VARIANT
734948 Benign: not provided 20,859,182(+) T/A SYNONYMOUS_VARIANT
744501 Likely Benign: not provided 20,887,672(+) C/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SNAP29 Gene

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

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

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for SNAP29

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RH (The Journal of biological chemistry 1998) 2 3 4 54
  2. ATG14 promotes membrane tethering and fusion of autophagosomes to endolysosomes. (PMID: 25686604) Diao J … Zhong Q (Nature 2015) 3 4 54
  3. Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. (PMID: 25686250) Lu Q … Westlake CJ (Nature cell biology 2015) 3 4 54
  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 54
  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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54

Products for SNAP29 Gene

Sources for SNAP29 Gene