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AMPH Gene

protein-coding   GIFtS: 67
GCID: GC07M038423

Amphiphysin

(Previous names: amphiphysin (Stiff-Mann syndrome with breast cancer 128kD...)
  See AMPH-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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Aliases
amphiphysin1 2
Amphiphysin (Stiff-Mann Syndrome With Breast Cancer 128kD Autoantigen)1 2
AMPH12 3
Amphiphysin (Stiff-Man Syndrome With Breast Cancer 128kDa Autoantigen)1
Amphiphysin I2

External Ids:    HGNC: 4711   Entrez Gene: 2732   Ensembl: ENSG000000780537   OMIM: 6004185   UniProtKB: P494183   

Export aliases for AMPH gene to outside databases

Previous GC identifers: GC07M038069 GC07M038130 GC07M038164 GC07M038196 GC07M038389 GC07M038307


(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 AMPH Gene:
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients
with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this
protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms.
Additional splice variants have been described, but their full length sequences have not been determined. A
pseudogene of this gene is found on chromosome 11.(provided by RefSeq, Nov 2010)

GeneCards Summary for AMPH Gene:
AMPH (amphiphysin) is a protein-coding gene. Diseases associated with AMPH include cystoid macular dystrophy, and retinitis pigmentosa 9. An important paralog of this gene is BIN1.

UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418
Function: May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May
control the properties of the membrane associated cytoskeleton

Gene Wiki entry for AMPH (Amphiphysin) 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_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMPH gene promoter:
         p53   AP-1   AP-2alpha isoform 4   AP-2alpha isoform 2   CUTL1   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AMPH promoter sequence
   Search Chromatin IP Primers for AMPH

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


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

Entrez Gene cytogenetic band: 7p14-p13   Ensembl cytogenetic band:  7p14.1   HGNC cytogenetic band: 7p14-p13

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M038423:  view genomic region     (about GC identifiers)

Start:
38,423,297 bp from pter      End:
38,671,167 bp from pter
Size:
247,871 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 38,460,969-38,708,834     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 (See protein sequence)
Recommended Name: Amphiphysin  
Size: 695 amino acids; 76257 Da
Subunit: Heterodimer with BIN1. Binds SH3GLB1 and AP2A2 (By similarity). Interacts with AP2B1. Interacts with
REPS1 and SGIP1; may be involved in clathrin-mediated endocytosis
Miscellaneous: Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the
central nervous system characterized by progressive rigidity of the body musculature with superimposed painful
spasms
4 PDB 3D structures from and Proteopedia for AMPH:
1KY7 (3D)        1UTC (3D)        3SOG (3D)        4ATM (3D)    
Secondary accessions: A4D1X8 A4D1X9 O43538 Q75MJ8 Q75MK5 Q75MM3 Q8N4G0
Alternative splicing: 2 isoforms:  P49418-1   P49418-2   

Explore the universe of human proteins at neXtProt for AMPH: NX_P49418

Explore proteomics data for AMPH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001626.1  NP_647477.1  

    ENSEMBL proteins: 
     ENSP00000317441   ENSP00000348602   ENSP00000415085   ENSP00000400404   ENSP00000390734  

    AMPH Human Recombinant Protein Products:

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

     
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    AMPH Antibody Products:

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    Novus Biologicals AMPH Antibodies
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    LSBio Antibodies in human, mouse, rat for AMPH

    AMPH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AMPH
    Cloud-Clone Corp. CLIAs for AMPH
    Search eBioscience for ELISAs for AMPH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR001452 SH3_domain
     IPR003005 Amphiphysin
     IPR003017 Amphiphysin_1
     IPR004148 BAR_dom

    Graphical View of Domain Structure for InterPro Entry P49418

    ProtoNet protein and cluster: P49418

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB003005 Amphiphysin signature
    IPB003017 Amphiphysin isoform 1 signature


    UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with AMPH           About GenesLikeMe


    (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,
    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: AMPH_HUMAN, P49418
    Function: May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May
    control the properties of the membrane associated cytoskeleton

         Genatlas biochemistry entry for AMPH:
    amphiphysin,nerve terminal,synaptic vesicle associated antigen,involved in synaptic vesicle endocytosis in the
    nerve terminals,by binding to the coat protein adaptor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17762867
    GO:0005543phospholipid binding IDA--
         
    Find genes that share ontologies with AMPH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for AMPH:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Amph):
     behavior/neurological  endocrine/exocrine gland  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with AMPH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Amphtm1Pdc for AMPH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMPH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AMPH

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

    miRNA
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    miRTarBase miRNAs that target AMPH:
    hsa-let-7b-5p (MIRT052112)

    Block miRNA regulation of human, mouse, rat AMPH using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate AMPH:
    hsa-miR-3673 hsa-miR-1231 hsa-miR-3607-3p hsa-miR-548d-3p hsa-miR-425 hsa-miR-330-3p hsa-miR-642b
    SwitchGear 3'UTR luciferase reporter plasmidAMPH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AMPH
    Predesigned siRNA for gene silencing in human, mouse, rat AMPH

    Gene Editing
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    Sino Biological Human cDNA Clone for AMPH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPH
    Addgene plasmids for AMPH 

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    eBioscience FlowRNA Probe Sets ( VA1-12295) for AMPH 


    (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
    AMPH_HUMAN, P49418: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane
    protein; Cytoplasmic side. Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    endosome2
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0008021synaptic vesicle TAS1628617
    GO:0015629actin cytoskeleton TAS9182667
    GO:0030054cell junction IEA--
    GO:0030672synaptic vesicle membrane IEA--

    Find genes that share ontologies with AMPH           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 AMPH About    
    See pathways by source

    SuperPathContained pathways About
    1Beta-Adrenergic Signaling
    CDK5 Pathway0.36
    2Monoamine Transport
    Monoamine Transport
    3Internalization of ErbB1
    Internalization of ErbB1
    4Fc gamma R-mediated phagocytosis
    Fc gamma R-mediated phagocytosis


    Find genes that share SuperPaths with AMPH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for AMPH
        CDK5 Pathway

    2 BioSystems Pathways for AMPH
        Monoamine Transport
    Internalization of ErbB1



    1 Kegg Pathway  (Kegg details for AMPH):
        Fc gamma R-mediated phagocytosis

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

        GeneGlobe Interaction Network for AMPH

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

    Selected Interacting proteins for AMPH (P494181, 2, 3 ENSP000003486024) via UniProtKB, MINT, STRING, and/or I2D (see all 174)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Necap1P696821, 2EBI-7121510,EBI-7592476 MINT-6167796 MINT-6168042 MINT-6168166 MINT-6168827 MINT-6168089 MINT-5260976 EBI-7121510,EBI-7592718 MINT-5262424 MINT-5262539 MINT-5262553
    SYNJ1O434262, 3, ENSP000003222344MINT-8095961 MINT-16056 MINT-8095825 MINT-8095924 I2D: score=4 STRING: ENSP00000322234
    DNM2P505702, 3, ENSP000003527214MINT-2516534 MINT-8096469 MINT-65956 I2D: score=3 STRING: ENSP00000352721
    DNM3Q9UQ162, 3, ENSP000003567054MINT-8096497 I2D: score=1 STRING: ENSP00000356705
    MAPK6Q166592, 3MINT-8260658 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis TAS9182667
    GO:0007268synaptic transmission TAS9182667
    GO:0007612learning IEA--
    GO:0048488synaptic vesicle endocytosis IEA--

    Find genes that share ontologies with AMPH           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 AMPH

    6 Novoseek inferred chemical compound relationships for AMPH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 37.2 5 9443464 (1), 16482925 (1), 9925188 (1), 20071184 (1) (see all 5)
    lipid 5.28 3 10559861 (1), 11604418 (1)
    proline 1.24 4 10542231 (2), 14529717 (1)
    calcium 0 8 18824588 (2), 19631746 (2), 9651678 (1), 11157570 (1) (see all 5)
    phosphatidylinositol 0 1 10542231 (1)
    acetylcholine 0 3 12405606 (1), 16482925 (1), 9925188 (1)



    Find genes that share compounds with AMPH           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 AMPH gene (2 alternative transcripts): 
    NM_001635.3  NM_139316.2  

    Unigene Cluster for AMPH:

    Amphiphysin
    Hs.592182  [show with all ESTs]
    Unigene Representative Sequence: NM_001635
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325590(uc003tgt.3) ENST00000356264(uc003tgu.3 uc003tgv.3)
    ENST00000441628(uc010kxl.1) ENST00000460887 ENST00000475581 ENST00000471913(uc003tgw.1)
    ENST00000467580 ENST00000450124 ENST00000462072 ENST00000428293
    miRNA
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    Block miRNA regulation of human, mouse, rat AMPH using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate AMPH:
    hsa-miR-3673 hsa-miR-1231 hsa-miR-3607-3p hsa-miR-548d-3p hsa-miR-425 hsa-miR-330-3p hsa-miR-642b
    SwitchGear 3'UTR luciferase reporter plasmidAMPH 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for AMPH 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AMPH
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    Additional mRNA sequence: 

    AF034996.1 AF498092.1 AF498093.1 AF498094.1 AF498096.1 AF498097.1 AK291447.1 BC034376.1 
    U07616.1 X81438.1 

    8 DOTS entries:

    DT.95265452  DT.216480  DT.100778700  DT.95265450  DT.100024283  DT.100024285  DT.100024288  DT.121071504 

    Selected AceView cDNA sequences (see all 82):

    F10677 F06517 BC034376 AL119578 F03327 AA620426 AA757605 AA933764 
    BI822061 Z39467 AF498097 AA349856 BM978301 F03194 BM929628 NM_139316 
    AF498096 AF034996 F03887 NM_001635 BM673566 AF498092 F07049 F13083 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AMPH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                          -                           
    SP2:                                                      
    SP3:                                                      


    ECgene alternative splicing isoforms for AMPH

    (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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    AMPH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTGCTCTT
    AMPH Expression
    About this image


    AMPH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Skeletal Muscle (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
    AMPH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMPH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592182

    UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418
    Tissue specificity: Neurons, certain endocrine cell types and spermatocytes

        Custom PCR Arrays for AMPH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPH

    (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 AMPH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amph1 , 5 amphiphysin1, 5 84.84(n)1
    86.7(a)1
      13 (6.89 cM)5
    2180381  NM_175007.11  NP_778172.11 
     189483715 
    chicken
    (Gallus gallus)
    Aves AMPH1 amphiphysin 72.81(n)
    75.33(a)
      420761  NM_001004398.1  NP_001004398.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMPH6
    amphiphysin
    66(a)
    1 ↔ 1
    6(47909090-48019797)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.143502 Xenopus laevis transcribed sequence with moderate similarity more 78.66(n)    BX845332.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731932 hypothetical protein MGC73193 79.18(n)   393804  BC060916.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Amph3 NOT synaptic vesicle endocytosis 38(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F58G6.13
    amph-11
    amphiphysin like3
    amph-11
    32(a)3
    48.19(n)1
    33.43(a)1
      IV(9644867-9647871)3
    1777971  NM_069310.31  NP_501711.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMPH gene
    BIN12  BIN22  
    2 SIMAP similar genes for AMPH using alignment to 10 protein entries:     AMPH_HUMAN (see all proteins):
    BIN1    BIN2

    Find genes that share paralogs with AMPH           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AMPH
    PGOHUM00000242575


    (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 AMPH (see all 5573)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs174975441,2
    C,F,H--38422870(+) CTCTTT/CTGGAA 2 -- ds500120Minor allele frequency- C:0.09NA NS EA WA 2450
    rs69691061,2
    C,F,H--38422882(+) TAATGG/ACCAAG 2 -- ds500110Minor allele frequency- A:0.02NS EA NA WA 1210
    rs1169990841,2
    C,F--38422898(+) TCACTT/CTTCTA 2 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1174039751,2
    C,F--38423009(+) AAGGTC/TGTAAG 2 -- ds50011Minor allele frequency- T:0.02NA 120
    rs1861657781,2
    --38423010(+) AGGTCA/GTAAGA 2 -- ds50010--------
    rs1901454861,2
    --38423030(+) ATTCAC/TGGACT 2 -- ds50010--------
    rs1167899681,2
    F--38423072(+) TCCGTT/CGGCAG 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1826899831,2
    --38423163(+) GGTGCA/GGTGGG 2 -- ds50010--------
    rs1851539141,2
    C--38423227(+) CTCCAA/GTACCA 2 -- ds50010--------
    rs1898143561,2
    --38423250(+) AGAGTA/GTCCGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for AMPH (38423297 - 38671167 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AMPH (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671086CNV Deletion23128226
    esv1768159CNV Deletion17803354
    esv2734291CNV Deletion23290073
    esv4081CNV Deletion18987735
    esv1963446CNV Deletion18987734
    esv2734290CNV Deletion23290073
    esv2734289CNV Deletion23290073
    esv1006794CNV Deletion20482838
    esv2734292CNV Deletion23290073
    esv5062CNV Deletion18987735

    Site Specific Mutation Identification with PCR Assays
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    (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: 600418    OMIM disorders: --

    7 diseases for AMPH:    
    About MalaCards
    cystoid macular dystrophy    retinitis pigmentosa 9    transverse myelitis    stiff-person syndrome
    myelitis    limbic encephalitis    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for AMPH:
    Stiff-Person syndrome     Centronuclear myopathy     Encephalitis

    Find genes that share disorders with AMPH           About GenesLikeMe

    Selected Novoseek inferred disease relationships for AMPH gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stiff-man syndrome 92.3 17 7757077 (2), 15836889 (2), 18971449 (2), 8076697 (2) (see all 12)
    limbic encephalitis 79.9 1 20420174 (1)
    paraneoplastic syndromes 72.7 3 9443464 (1), 12846868 (1), 19398941 (1)
    autoimmunity 55.6 11 14755734 (2), 8245793 (1), 9443464 (1), 7757077 (1) (see all 10)
    rare disease 37.3 2 20018647 (1), 18971449 (1)
    autoimmune diseases 33.9 2 15836889 (1), 11748137 (1)
    breast cancer 33.4 9 8076697 (2), 9443464 (1), 18971449 (1), 12846868 (1) (see all 8)
    breast carcinoma 25.6 2 8619552 (1), 12846868 (1)
    lung carcinoma 25.1 1 8619552 (1)
    neurological disorders 16.3 2 16567945 (1), 20071184 (1)

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

    Export disorders for AMPH 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 AMPH gene, integrated from 10 sources (see all 165):
    (articles sorted by number of sources associating them with AMPH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (PubMed id 7757077)1, 2, 9 Yamamoto R.... Kilimann M.W. (Hum. Mol. Genet. 1995)
    2. Autoimmunity in stiff-man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161. (PubMed id 8076697)1, 2, 9 David C.... de Camilli P. (FEBS Lett. 1994)
    3. The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. (PubMed id 8245793)1, 3, 9 De Camilli P....Kilimann M.W. (J. Exp. Med. 1993)
    4. Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. (PubMed id 9513187)1, 2, 9 Floyd S.R.... De Camilli P.V. (Mol. Med. 1998)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O.... Rynditch A. (Biochem. Biophys. Res. Commun. 2010)
    7. 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)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    10. Accessory protein recruitment motifs in clathrin-mediated endocytosis. (PubMed id 12057195)1, 2 Brett T.J.... Fremont D.H. (Structure 2002)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 273 HGNC: 471 AceView: AMPH Ensembl:ENSG00000078053 euGenes: HUgn273
    ECgene: AMPH Kegg: 273 H-InvDB: AMPH

    (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 AMPH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMPH Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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