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Aliases for SNPH Gene

Aliases for SNPH Gene

  • Syntaphilin 2 3
  • BA314N13.5 3
  • KIAA0374 4

External Ids for SNPH Gene

Previous GeneCards Identifiers for SNPH Gene

  • GC20P001235
  • GC20P001241
  • GC20P001194

Summaries for SNPH Gene

Entrez Gene Summary for SNPH Gene

  • Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNPH Gene

SNPH (Syntaphilin) is a Protein Coding gene. Diseases associated with SNPH include communicating hydrocephalus. GO annotations related to this gene include syntaxin-1 binding. An important paralog of this gene is SYBU.

UniProtKB/Swiss-Prot for SNPH Gene

  • Inhibits SNARE complex formation by absorbing free syntaxin-1.

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

Genomics for SNPH Gene

Regulatory Elements for SNPH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SNPH Gene

1,266,297 bp from pter
1,309,328 bp from pter
43,032 bases
Plus strand

Genomic View for SNPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNPH Gene

Proteins for SNPH Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q8IYI3

    Protein attributes for SNPH Gene

    494 amino acids
    Molecular mass:
    53537 Da
    Quaternary structure:
    • Binds to syntaxin-1
    • Sequence=BAA20829.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SNPH Gene


neXtProt entry for SNPH Gene

Proteomics data for SNPH Gene at MOPED

Post-translational modifications for SNPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNPH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SNPH Gene

Domains & Families for SNPH Gene

Protein Domains for SNPH Gene

Suggested Antigen Peptide Sequences for SNPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SNPH: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SNPH Gene

Function for SNPH Gene

Molecular function for SNPH Gene

UniProtKB/Swiss-Prot Function:
Inhibits SNARE complex formation by absorbing free syntaxin-1.

Gene Ontology (GO) - Molecular Function for SNPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017075 syntaxin-1 binding NAS 10707983
genes like me logo Genes that share ontologies with SNPH: view
genes like me logo Genes that share phenotypes with SNPH: view

Animal Models for SNPH Gene

MGI Knock Outs for SNPH:

miRNA for SNPH Gene

miRTarBase miRNAs that target SNPH

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNPH

In Situ Assay Products

Flow Cytometry Products

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

Localization for SNPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNPH Gene

Membrane; Single-pass membrane protein. Cell junction, synapse, synaptosome.

Subcellular locations from

Jensen Localization Image for SNPH Gene COMPARTMENTS Subcellular localization image for SNPH gene
Compartment Confidence
cytoskeleton 5
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SNPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15459722
GO:0005739 mitochondrion IEA --
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SNPH: view

Pathways & Interactions for SNPH Gene

SuperPathways for SNPH Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007269 neurotransmitter secretion NAS 10707983
GO:0016081 synaptic vesicle docking NAS 10707983
genes like me logo Genes that share ontologies with SNPH: view

No data available for Pathways by source and SIGNOR curated interactions for SNPH Gene

Drugs & Compounds for SNPH Gene

No Compound Related Data Available

Transcripts for SNPH Gene

Unigene Clusters for SNPH Gene

Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNPH

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2: - - -
SP3: - - -

Relevant External Links for SNPH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SNPH Gene

mRNA expression in normal human tissues for SNPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNPH Gene

This gene is overexpressed in Brain - Cortex (x5.8), Brain - Frontal Cortex (BA9) (x4.9), Brain - Anterior cingulate cortex (BA24) (x4.5), Brain - Hippocampus (x4.3), and Brain - Amygdala (x4.0).

Protein differential expression in normal tissues from HIPED for SNPH Gene

This gene is overexpressed in Spinal cord (22.5), Retina (17.7), and Frontal cortex (13.3).

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

SOURCE GeneReport for Unigene cluster for SNPH Gene Hs.323833

mRNA Expression by UniProt/SwissProt for SNPH Gene

Tissue specificity: Brain specific. Found in synapses.
genes like me logo Genes that share expression patterns with SNPH: view

Protein tissue co-expression partners for SNPH Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SNPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNPH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SNPH 35
  • 90.28 (n)
  • 91.5 (a)
  • 87 (a)
(Canis familiaris)
Mammalia SNPH 35
  • 89.93 (n)
  • 90.42 (a)
  • 89 (a)
(Mus musculus)
Mammalia Snph 35
  • 88.05 (n)
  • 91.24 (a)
Snph 16
Snph 36
  • 84 (a)
(Pan troglodytes)
Mammalia SNPH 35
  • 99.53 (n)
  • 100 (a)
  • 92 (a)
(Rattus norvegicus)
Mammalia Snph 35
  • 87.48 (n)
  • 89.18 (a)
(Monodelphis domestica)
Mammalia SNPH 36
  • 71 (a)
(Gallus gallus)
Aves LOC100858058 35
  • 77.03 (n)
  • 73.93 (a)
  • 81 (a)
(Anolis carolinensis)
Reptilia SNPH 36
  • 68 (a)
(Danio rerio)
Actinopterygii LOC569963 35
  • 65.01 (n)
  • 63.45 (a)
snpha 36
  • 37 (a)
snphb 36
  • 33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10436 35
Species with no ortholog for SNPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNPH Gene

Gene Tree for SNPH (if available)
Gene Tree for SNPH (if available)

Paralogs for SNPH Gene

Paralogs for SNPH Gene

(1) SIMAP similar genes for SNPH Gene using alignment to 1 proteins:

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

Variants for SNPH Gene

Sequence variations from dbSNP and Humsavar for SNPH Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs13163 -- 1,308,941(+) CACAG(A/G)GAGCT utr-variant-3-prime
rs744840 -- 1,292,621(-) AGGGG(C/T)ACAAT intron-variant
rs753949 -- 1,273,070(-) CTACC(A/C)CACCC intron-variant
rs872958 -- 1,265,711(-) TTGTG(C/G)CTCTT upstream-variant-2KB
rs912104 -- 1,299,700(-) GCACA(A/C)ACGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4513n71 CNV Loss 21882294
nsv518957 CNV Gain 19592680
dgv4514n71 CNV Loss 21882294
nsv912590 CNV Loss 21882294
esv2722063 CNV Deletion 23290073
esv2722064 CNV Deletion 23290073
esv2722065 CNV Deletion 23290073
esv24525 CNV Gain+Loss 19812545
nsv821480 CNV Deletion 20802225
esv2722066 CNV Deletion 23290073
esv1588736 CNV Deletion 17803354
esv1774028 CNV Deletion 17803354
esv2722067 CNV Deletion 23290073
esv2722068 CNV Deletion 23290073
esv2722069 CNV Deletion 23290073
dgv4515n71 CNV Loss 21882294
nsv912595 CNV Loss 21882294

Variation tolerance for SNPH Gene

Residual Variation Intolerance Score: 71.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNPH Gene

HapMap Linkage Disequilibrium report

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

Disorders for SNPH Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNPH Gene - From: DISEASES

Disorder Aliases PubMed IDs
communicating hydrocephalus
  • communicating hydrocephalus [ambiguous]
- elite association
Search SNPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNPH

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

No data available for UniProtKB/Swiss-Prot and Genatlas for SNPH Gene

Publications for SNPH Gene

  1. Syntaphilin: a syntaxin-1 clamp that controls SNARE assembly. (PMID: 10707983) Lao G. … Sheng Z.-H. (Neuron 2000) 2 23 67
  2. Mitochondrial changes within axons in multiple sclerosis. (PMID: 19293237) Mahad D.J. … Turnbull D.M. (Brain 2009) 23 67
  3. Molecular cloning of the m-Golsyn gene and its expression in the mouse brain. (PMID: 16572588) Funakoshi E. … Ito F. (Gene Expr. 2006) 23 67
  4. Molecular cloning and characterization of gene for Golgi-localized syntaphilin-related protein on human chromosome 8q23. (PMID: 15656992) Funakoshi E. … Ito F. (Gene 2005) 23 67
  5. Phosphorylation of syntaphilin by cAMP-dependent protein kinase modulates its interaction with syntaxin-1 and annuls its inhibitory effect on vesicle exocytosis. (PMID: 14985338) Boczan J. … Sheng Z.H. (J. Biol. Chem. 2004) 23 67

Products for SNPH Gene

Sources for SNPH Gene

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