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SYP Gene

protein-coding   GIFtS: 68
GCID: GC0XM049044

Synaptophysin

  See SYP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
synaptophysin1 2
Major Synaptic Vesicle Protein P382 3
MRX962
MRXSYP2
MRX5

External Ids:    HGNC: 115061   Entrez Gene: 68552   Ensembl: ENSG000001020037   OMIM: 3134755   UniProtKB: P082473   
ORGUL members:         

Export aliases for SYP gene to outside databases

Previous GC identifers: GC0XM047830 GC0XM047286 GC0XM047850 GC0XM048070 GC0XM048800 GC0XM048931 GC0XM046701


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SYP Gene:
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The
protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2
(synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental
retardation (XLMR). (provided by RefSeq, Aug 2011)

GeneCards Summary for SYP Gene:
SYP (synaptophysin) is a protein-coding gene. Diseases associated with SYP include pancreatoblastoma, and mucinous tubular and spindle cell carcinoma. GO annotations related to this gene include transporter activity and calcium ion binding. An important paralog of this gene is SYNPR.

UniProtKB/Swiss-Prot: SYPH_HUMAN, P08247
Function: Possibly involved in structural functions as organizing other membrane components or in targeting the
vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By
similarity)

Gene Wiki entry for SYP (Synaptophysin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the SYP gene promoter:
         c-Fos   COUP-TF1   AP-1   ATF-2   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYP promoter sequence
   Search Chromatin IP Primers for SYP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SYP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23-p11.22   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23-p11.22

SYP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYP gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM049044:  view genomic region     (about GC identifiers)

Start:
49,044,265 bp from pter      End:
49,056,718 bp from pter
Size:
12,454 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYPH_HUMAN, P08247 (See protein sequence)
Recommended Name: Synaptophysin  
Size: 313 amino acids; 33845 Da
Subunit: Homohexamer or homotetramer. Interacts with SRCIN1
Secondary accessions: B2R7L6 Q6P2F7

Explore the universe of human proteins at neXtProt for SYP: NX_P08247

Explore proteomics data for SYP at MOPED

Post-translational modifications: 

  • Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation (By similarity)1
  • Glycosylation2 at Asn59
  • Modification sites at PhosphoSitePlus

  • See SYP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003170.1  
    ENSEMBL proteins: 
     ENSP00000263233   ENSP00000418387   ENSP00000365480   ENSP00000418169   ENSP00000418987  
     ENSP00000420774   ENSP00000437456  

    SYP Human Recombinant Protein Products:

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    Novus Biologicals SYP Protein
    Novus Biologicals SYP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SYP

     
    Search eBioscience for Proteins for SYP 

     
    antibodies-online proteins for SYP (3 products) 

     
    antibodies-online peptides for SYP

    SYP Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYP
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    antibodies-online antibodies for SYP (230 products) 

    SYP Assay Products:

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    Cloud-Clone Corp. ELISAs for SYP
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    antibodies-online kits for SYP (32 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001285 Synaptophysin/porin
     IPR008253 Marvel
     IPR028714 SYP

    Graphical View of Domain Structure for InterPro Entry P08247

    ProtoNet protein and cluster: P08247

    2 Blocks protein domains:
    IPB001285 Synaptophysin/synaptoporin
    IPB008253 Marvel


    UniProtKB/Swiss-Prot: SYPH_HUMAN, P08247
    Domain: The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein
    Similarity: Belongs to the synaptophysin/synaptobrevin family
    Similarity: Contains 1 MARVEL domain


    Find genes that share domains with SYP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYPH_HUMAN, P08247
    Function: Possibly involved in structural functions as organizing other membrane components or in targeting the
    vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By
    similarity)

         Genatlas biochemistry entry for SYP:
    synaptophysin (integral protein of small presynaptic vesicles of neurons)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
    GO:0015485cholesterol binding IDA10620806
    GO:0017075syntaxin-1 binding IEA--
         
    Find genes that share ontologies with SYP           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Syp):
     nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with SYP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SYP: Syptm1Leu Syptm1Sud

       genOway: Develop your customized and physiologically relevant rodent model for SYP

    miRNA
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    miRTarBase miRNAs that target SYP:
    hsa-mir-335-5p (MIRT017945)

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    Selected qRT-PCR Assays for microRNAs that regulate SYP (see all 32):
    hsa-miR-1321 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-374a hsa-miR-486-3p hsa-miR-3142 hsa-miR-2116 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidSYP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SYP
    Predesigned siRNA for gene silencing in human, mouse, rat SYP

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SYP (NM_003179)
    Sino Biological Human cDNA Clone for SYP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYP

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    eBioscience FlowRNA Probe Sets ( VA6-13879) for SYP 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYPH_HUMAN, P08247: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane
    protein. Cell junction, synapse, synaptosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    plasma membrane3
    extracellular2
    golgi apparatus2
    mitochondrion2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    endosome1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008021synaptic vesicle ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--
    GO:0030285integral component of synaptic vesicle membrane NAS1975480

    Find genes that share ontologies with SYP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SYP About    
    See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    2Neuroscience
    Neuroscience


    Find genes that share SuperPaths with SYP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SYP
        Neuroscience

    1 BioSystems Pathway for SYP
        Synaptic Vesicle Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SYP
    Interactions:

        GeneGlobe Interaction Network for SYP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SYP (P082473 ENSP000002632334) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    VAMP2P630273, ENSP000003142144I2D: score=3 STRING: ENSP00000314214
    SIAH1Q8IUQ43, ENSP000003491564I2D: score=2 STRING: ENSP00000349156
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis ISS--
    GO:0016188synaptic vesicle maturation NAS10620806
    GO:0048168regulation of neuronal synaptic plasticity IBA--
    GO:0048169regulation of long-term neuronal synaptic plasticity ISS--
    GO:0048172regulation of short-term neuronal synaptic plasticity ISS--

    Find genes that share ontologies with SYP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SYP (SYPH)

    1 HMDB Compound for SYP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for SYP gene (see all 79)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smcc 69.5 2 18008084 (1), 18323171 (1)
    paraffin 55.8 19 1693875 (1), 1654075 (1), 9775396 (1), 15574220 (1) (see all 18)
    reticulin 55.6 1 16570197 (1)
    s 100 54.8 5 7609154 (1), 11253140 (1), 17335582 (1), 1371487 (1)
    mucicarmine 54.5 1 19132778 (1)
    hematoxylin 44.7 2 16405409 (1), 20205830 (1)
    b 723 44.6 7 10987260 (3), 12481020 (1), 12647218 (1), 20182344 (1) (see all 5)
    111in-pentetreotide 40 2 19561636 (1)
    progesterone 39.6 36 14506675 (1), 14659309 (1), 15001999 (1), 15974816 (1) (see all 35)
    alpha-latrotoxin 37.6 2 15198661 (1), 1967610 (1)



    Find genes that share compounds with SYP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SYP gene: 
    NM_003179.2  

    Unigene Cluster for SYP:

    Synaptophysin
    Hs.632804  [show with all ESTs]
    Unigene Representative Sequence: BC064550
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263233(uc004dmz.1 uc011mmz.1) ENST00000472598 ENST00000376303
    ENST00000479808 ENST00000469389 ENST00000466635 ENST00000494396 ENST00000472737
    ENST00000538567
    miRNA
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    hsa-miR-1321 hsa-miR-1914* hsa-miR-513a-5p hsa-miR-374a hsa-miR-486-3p hsa-miR-3142 hsa-miR-2116 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidSYP 3' UTR sequence
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-13879) for SYP 

    Additional mRNA sequence: 

    AK295524.1 AK313030.1 AK315953.1 BC032385.1 BC064550.1 X06389.1 

    9 DOTS entries:

    DT.114446  DT.100837666  DT.121307702  DT.121307680  DT.75155765  DT.91673390  DT.91993682  DT.95274943 
    DT.97777204 

    Selected AceView cDNA sequences (see all 181):

    BC016856 BU685092 BM693201 AA524273 BQ638375 BX089443 AA317404 AJ011654 
    BQ919604 CR609397 AI368248 BQ637168 BC032385 BQ024547 BE784642 BM699127 
    CR605904 AA322279 BU167864 NM_006150 CB154970 BU170706 BQ057184 BX436352 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SYP (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b
    SP1:                    -           -     -     -                                                         
    SP2:                    -           -     -     -                 -     -                                 
    SP3:                    -                       -                                                         
    SP4:                    -     -     -     -     -                                                         
    SP5:                    -     -     -     -     -     -     -     -                                       


    ECgene alternative splicing isoforms for SYP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SYP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCAGTGAA
    SYP Expression
    About this image


    SYP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             Dopaminergic-like neurons
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
     
     Neurons
             Dopaminergic-like neurons
     
     Dopaminergic Neurons (Nervous System)
             Dopaminergic-like neurons
     
     Eye (Sensory Organs)
    SYP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632804

    UniProtKB/Swiss-Prot: SYPH_HUMAN, P08247
    Tissue specificity: Characteristic of a type of small (30-80 nm) neurosecretory vesicles, including presynaptic
    vesicles, but also vesicles of various neuroendocrine cells of both neuronal and epithelial phenotype

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SYP gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syp1 , 5 synaptophysin1, 5 90.52(n)1
    95.21(a)1
      X (3.44 cM)5
    209771  NM_009305.21  NP_033331.21 
     76384715 
    lizard
    (Anolis carolinensis)
    Reptilia SYP6
    synaptophysin
    69(a)
    1 ↔ 1
    2(88905188-88960909)
    African clawed frog
    (Xenopus laevis)
    Amphibia syp-B2 synaptophysin 72.58(n)    AF035015.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.117162 Transcribed sequence with weak similarity to protein more 74.34(n)    CK353511.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sph-16
    Protein SPH-1 (sph-1) mRNA, complete cds
    26(a)
    1 → many
    IV(8132175-8133692) WBGene00004979


    ENSEMBL Gene Tree for SYP (if available)
    TreeFam Gene Tree for SYP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SYP gene
    SYNPR2  SYPL12  SYPL22  
    4 SIMAP similar genes for SYP using alignment to 5 protein entries:     SYPH_HUMAN (see all proteins):
    SYNPR    SYPL1    SYPL    SYPL2

    Find genes that share paralogs with SYP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SYP (see all 195)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0629864
    Mental retardation, X-linked, SYP-related (MRXSYP)4--see VAR_0629862 G R mis40--------
    rs1467374301,2
    --48963875(+) GTGCAA/GCAAGC 1 -- ds50010--------
    rs1821735171,2
    --48963944(+) CCCCCA/GGCCAA 1 -- ds50010--------
    rs1394047391,2
    --48963961(+) CCCCGG/TCGCCC 1 -- ds50010--------
    rs1858218211,2
    C--48963966(+) GCGCCC/TGAAAA 1 -- ds50010--------
    rs117970641,2
    C,H--48964051(+) TTCTTC/TCTTGG 1 -- ut312Minor allele frequency- T:0.00NA 4
    rs1890841901,2
    --48964153(+) ACACAC/TGATCA 1 -- ut310--------
    rs1810700151,2
    --48964236(+) CAGGAC/TGGGTG 1 -- ut310--------
    rs171442221,2
    C,F,H--48964420(+) CACTCG/AACTCT 1 -- ut31 ese39Minor allele frequency- A:0.01NA NS EA 1132
    rs1856643521,2
    --48964440(+) ACTTCC/TGTCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SYP (49044265 - 49056718 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SYP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407
    nsv7442OTHER Inversion18451855
    nsv205OTHER Inversion15895083

    Human Gene Mutation Database (HGMD): SYP
    Locus Specific Mutation Databases (LSDB): SYP

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SYP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 313475   
    OMIM disorders: 300802  
    UniProtKB/Swiss-Prot: SYPH_HUMAN, P08247
  • Mental retardation, X-linked, SYP-related (MRXSYP) [MIM:300802]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for SYP (see all 71):    
    About MalaCards
    pancreatoblastoma    mucinous tubular and spindle cell carcinoma    neuroendocrine carcinoma of the cervix    extraventricular neurocytoma
    mental retardation, x-linked 96    small cell carcinoma of the bladder    large cell medulloblastoma    gangliocytoma
    small cell neuroendocrine carcinoma    pineal parenchymal tumor of intermediate differentiation    small cell carcinoma    spindle cell carcinoma
    cutaneous neuroendocrine carcinoma    dysembryoplastic neuroepithelial tumor    central neurocytoma    pleomorphic xanthoastrocytoma
    mixed ductal-endocrine carcinoma    testicular sex cord-stromal tumor    binswanger's disease    syp-related x-linked mental retardation

    19 diseases from the University of Copenhagen DISEASES database for SYP:
    Carcinoma     Ganglioglioma     Paraganglioma     Brain cancer
    Alzheimer's disease     Dysembryoplastic neuroepithelial tumor     Merkel cell carcinoma     Medulloblastoma
    Lung cancer     Malignant glioma     Brain disease     Neuroblastoma
    Pineoblastoma     Adenoma     Medulloepithelioma     Gangliocytoma
    Melanotic neuroectodermal tumor     Schizophrenia     Subependymal giant cell astrocytoma

    Find genes that share disorders with SYP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SYP gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma neuroendocrine 92.4 26 7832277 (2), 19047907 (1), 11176070 (1), 14533935 (1) (see all 21)
    neurocytoma 88.2 10 10451427 (2), 1615372 (1), 17167646 (1), 17039400 (1) (see all 8)
    neurocytoma central 87.6 12 20429311 (3), 1471723 (1), 2028745 (1), 8410138 (1) (see all 9)
    carcinoid 84.6 43 15551743 (2), 10469401 (1), 11433616 (1), 14651212 (1) (see all 42)
    small cell lung cancer 80.1 33 19321468 (3), 10460660 (2), 15816436 (1), 15899778 (1) (see all 27)
    neuroendocrine tumors 79.6 18 8287627 (3), 9744317 (1), 18430248 (1), 18726606 (1) (see all 15)
    pineocytoma 78.4 5 7839826 (2), 7821912 (1), 1500956 (1), 1473313 (1)
    tumors 77.2 515 18209916 (5), 16188147 (3), 8212457 (3), 17222630 (3) (see all 99)
    ganglioglioma 76.8 19 10581850 (4), 8246054 (3), 9591724 (2), 2104823 (1) (see all 12)
    primitive neuroectodermal tumor pnet 75.3 5 7780694 (2), 8673418 (1), 19652428 (1), 2159086 (1)

    Genetic Association Database (GAD): SYP
    Human Genome Epidemiology (HuGE) Navigator: SYP (2 documents)

    Export disorders for SYP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SYP gene, integrated from 10 sources (see all 1241):
    (articles sorted by number of sources associating them with SYP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (PubMed id 19377476)1, 2, 3 Tarpey P.S.... Stratton M.R. (Nat. Genet. 2009)
    2. The cDNA and derived amino acid sequences for rat and human synaptophysin. (PubMed id 3120152)1, 2, 3 Suedhof T.C.... Jahn R. (Nucleic Acids Res. 1987)
    3. Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse. (PubMed id 1975480)1, 2, 9 Oezcelik T.... Suedhof T.C. (Am. J. Hum. Genet. 1990)
    4. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PubMed id 9344658)1, 2, 9 Fisher S.E.... Craig I.W. (Genomics 1997)
    5. Characterization of a multidomain adaptor protein, p140Cap, as part of a pre-synaptic complex. (PubMed id 18662323)1, 2 Ito H.... Nagata K. (J. Neurochem. 2008)
    6. The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes. (PubMed id 16894395)1, 4 Brookes K....Asherson P. (Mol. Psychiatry 2006)
    7. DNA pooling analysis of ADHD and genes regulating vesicle release of neurotransmitters. (PubMed id 16082702)1, 4 Brookes K.J....Asherson P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Co-localization of synaptophysin with different neuroendocrine hormones in the human gastrointestinal tract. (PubMed id 9930883)1, 9 Portela-Gomes G.M....Grimelius L. (Histochem. Cell Biol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6855 HGNC: 11506 AceView: SYPandLMO6 Ensembl:ENSG00000102003 euGenes: HUgn6855
    ECgene: SYP H-InvDB: SYP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SYP Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Synaptophysin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SYP gene:
    Search GeneIP for patents involving SYP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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