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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SYP Gene

protein-coding   GIFtS: 66
GCID: GC0XM049044

Synaptophysin

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
synaptophysin1 2
Major Synaptic Vesicle Protein P382 3
MRXSYP2
MRX5

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

Export aliases for SYP gene to outside databases

Previous GC identifers: GC0XM047830 GC0XM047286 GC0XM047850 GC0XM048070 GC0XM048800 GC0XM048931 GC0XM046701


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neuroendocrine carcinoma, and central neurocytoma, and among its related super-pathways are Synaptic vesicle cycle. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SYP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane
protein. Cell junction, synapse, synaptosome
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:

  • UniProtKB: Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08247

  • SYP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    Human Recombinant Protein Products for SYP: 
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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 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

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

    SYP for ontologies           About GeneDecksing



    SYP Antibody Products: 
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    R&D Systems Antibodies for SYP (Synaptophysin)
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    LSBio Antibodies in human, mouse, rat for SYP 

    Assay Products for SYP: 
    EMD Millipore Kits and Assays for the Analysis of SYP
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    Cloud-Clone Corp. ELISAs for SYP 
    Cloud-Clone Corp. CLIAs for SYP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR021128 MARVEL-like_dom
     IPR001285 Synaptophysin/porin
     IPR008253 Marvel

    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


    SYP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005509calcium ion binding NAS--
    GO:0005515protein binding ----
    GO:0015485cholesterol binding IDA10620806
    GO:0017075syntaxin-1 binding IEA--
         
    SYP for ontologies           About GeneDecksing


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

    SYP for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SYP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SYP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYP 

    miRNA
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    8/32 QIAGEN miScript miRNA 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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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SYP About                                                                                                See pathways by source

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

    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




    SYP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/33 Interacting proteins for SYP (P082473 ENSP000002632334) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis ISS--
    GO:0016188synaptic vesicle maturation NAS10620806
    GO:0048169regulation of long-term neuronal synaptic plasticity ISS--
    GO:0048172regulation of short-term neuronal synaptic plasticity ISS--
    GO:0048499synaptic vesicle membrane organization NAS10620806

    SYP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SYP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/79 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)

    Search CenterWatch for drugs/clinical trials and news about SYP / SYPH

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Inhib. RNA
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    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 

    24/181 AceView cDNA sequences (see all 181):

    AA317404 AI298803 BQ024547 BM927073 CR599877 BM693201 BQ639254 BX436352 
    AI124821 AI368248 AI688036 AA350971 BU170706 BQ919604 AA322279 AJ011654 
    BP353641 BG282726 NM_006150 AA524273 BC002468 BC032385 BQ893689 BQ060989 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SYP expression in normal human tissues (normalized intensities)      SYP embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/hindbrain   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Eye (Sensory Organs)

    See SYP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYP

    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

        SABiosciences Custom PCR Arrays for SYP
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SYP gene from 5/10 species (see all 10)    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
    Uncharacterized protein
    70(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
    26(a)
    1 → many
    IV(8132175-8133692)


    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)
    About This Section
    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

    SYP for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/195 SNPs in SYP are shown (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--------
    VAR_0629854
    ----see VAR_0629852 D N mis40--------
    VAR_0629844
    ----see VAR_0629842 S L mis40--------
    VAR_0629884
    ----see VAR_0629882 D E mis40--------
    VAR_0629834
    ----see VAR_0629832 L Q mis40--------
    VAR_0629874
    ----see VAR_0629872 D N 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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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 adaptative behavior
    and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/192 diseases for SYP (see all 192):    About MalaCards
    neuroendocrine carcinoma    central neurocytoma    extraventricular neurocytoma    dysembryoplastic neuroepithelial tumor
    pleomorphic xanthoastrocytoma    pancreatoblastoma    peripheral neuroblastoma    small cell carcinoma of the bladder
    neuroendocrine carcinoma of the cervix    large cell medulloblastoma    papillary tumour of the pineal region    cutaneous neuroendocrine carcinoma
    mixed ductal-endocrine carcinoma    binswanger's disease    pilomyxoid astrocytoma    mental retardation, x-linked, with or without epilepsy
    breast neuroendocrine neoplasm    syp-related x-linked mental retardation    gangliocytoma    acinar cell carcinoma

    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

    SYP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 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)
    About This Section

    PubMed articles for SYP gene, integrated from 9 sources (see all 1239):
    (articles sorted by number of sources associating them with SYP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cDNA and derived amino acid sequences for rat and human synaptophysin. (PubMed id 3120152)1, 2, 3 Suedhof T.C.... Jahn R. (1987)
    2. 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. (1990)
    3. 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. (1997)
    4. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (PubMed id 19377476)1, 2 Tarpey P.S.... Stratton M.R. (2009)
    5. Characterization of a multidomain adaptor protein, p1 40Cap, as part of a pre-synaptic complex. (PubMed id 18662323)1, 2 Ito H....Nagata K. (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. (2006)
    7. DNA pooling analysis of ADHD and genes regulating vesicle release of neurotransmitters. (PubMed id 16082702)1, 4 Brookes K.J....Asherson P. (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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (1999)

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

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6855 HGNC: 11506 AceView: SYPandLMO6 Ensembl:ENSG00000102003 euGenes: HUgn6855
    ECgene: SYP H-InvDB: SYP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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