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

AMPH Gene

protein-coding   GIFtS: 67
GCID: GC07M038423

Amphiphysin

(Previous names: amphiphysin (Stiff-Mann syndrome with breast cancer 128kD...)
Pneumococci & Pneumococcal Diseases Congress
  See 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)
About This Section

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

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 paraneoplastic polyneuropathy, and cystoid macular dystrophy, and among its related super-pathways are Beta-Adrenergic Signaling. GO annotations related to this gene include protein binding and protein domain specific binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AMPH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane
protein; Cytoplasmic side. Cytoplasm, cytoskeleton
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49418

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

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

    ENSEMBL proteins: 
     ENSP00000317441   ENSP00000348602   ENSP00000415085   ENSP00000400404   ENSP00000390734  

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

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    AMPH for ontologies           About GeneDecksing



    AMPH Antibody Products: 
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    Abcam antibodies for AMPH
    Cloud-Clone Corp. Antibodies for AMPH 
    ThermoFisher Antibodies for AMPH
    LSBio Antibodies in human, mouse, rat for AMPH 

    Assay Products for AMPH: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for AMPH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011511 SH3_2
     IPR027267 AH/BAR-dom
     IPR003017 Amphiphysin_1
     IPR001452 SH3_domain
     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


    AMPH 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: 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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17762867
         
    AMPH for ontologies           About GeneDecksing


    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 

    AMPH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Amphtm1Pdc for AMPH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMPH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    7 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of AMPH

    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of AMPH 

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


    (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 AMPH About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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


    AMPH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMPH

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

    5/66 Interacting proteins for AMPH (P494182, 3 ENSP000003486024) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SYNJ1O434262, 3, ENSP000003222344MINT-8095961 MINT-16056 MINT-8095825 MINT-8095924 I2D: score=4 STRING: ENSP00000322234
    MAPK6Q166592, 3MINT-8260658 I2D: score=2 
    DNM1Q051932, 3, ENSP000003620144MINT-18828 MINT-8096359 MINT-18829 MINT-65945 MINT-8096278 MINT-8096384 I2D: score=7 STRING: ENSP00000362014
    DNM2P505702, 3, ENSP000003527214MINT-2516534 MINT-8096469 MINT-65956 I2D: score=3 STRING: ENSP00000352721
    DNM3Q9UQ162, 3, ENSP000003567054MINT-8096497 I2D: score=1 STRING: ENSP00000356705
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

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

    AMPH 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

    AMPH for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about AMPH

    (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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMPH
    7 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AMPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPH
    Clone
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    OriGene ORF clones in mouse, rat for AMPH
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    GenScript: all cDNA clones in your preferred vector (see all 2): AMPH (NM_001635)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPH
    Sirion Biotech Customized lentivirus for stable overexpression of AMPH 
                         Customized lentivirus expression plasmids for stable overexpression of AMPH 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPH

    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 

    24/82 AceView cDNA sequences (see all 82):

    BC034376 AL119578 F03327 AA620426 AA757605 AA933764 BI822061 Z39467 
    AF498097 AA349856 BM978301 F03194 BM929628 NM_139316 AF498096 AF034996 
    F03887 NM_001635 BM673566 AF498092 F10677 F06517 F09094 CK003076 

    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™, 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

    AMPH expression in normal human tissues (normalized intensities)      AMPH embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             Subthalamic Nucleus   
     
     Dermis (Uncategorized)    fully expand to see all 3 entries
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Fibroblast
             Detroit 551
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor E68

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

    SOURCE GeneReport for Unigene cluster: Hs.592182

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

        SABiosciences Custom PCR Arrays for AMPH
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPH
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AMPH gene from 7/15 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 84.8(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 73.01(n)
    75.19(a)
      420761  NM_001004398.1  NP_001004398.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMPH6
    amphiphysin
    65(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 amphiphysin like 32(a)   IV(9644867-9647871)   --


    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)
    About This Section
    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

    AMPH for paralogs           About GeneDecksing


    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) 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

    10/5573 SNPs in AMPH are shown (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) 10/24 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

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    (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: 600418    OMIM disorders: --

    20/36 diseases for AMPH (see all 36):    About MalaCards
    paraneoplastic polyneuropathy    cystoid macular dystrophy    retinitis pigmentosa 9    transverse myelitis
    stiff-person syndrome    limbic encephalitis    paraneoplastic syndromes    myelitis
    breast cancer    paraneoplastic cerebellar degeneration    lambert-eaton myasthenic syndrome    cerebellar degeneration
    centronuclear myopathy    obsessive-compulsive disorder    encephalitis    polyneuropathy
    myoclonus    motor neuron disease    mediastinitis    small cell carcinoma

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

    AMPH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/12 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)
    About This Section

    PubMed articles for AMPH gene, integrated from 9 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. (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. (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....Bottazzo G. (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. (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. (2010)
    6. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O....Rynditch A. (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. (2004)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. Accessory protein recruitment motifs in clathrin-mediated endocytosis. (PubMed id 12057195)1, 2 Brett T.J.... Fremont D.H. (2002)

    (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: 273 HGNC: 471 AceView: AMPH Ensembl:ENSG00000078053 euGenes: HUgn273
    ECgene: AMPH Kegg: 273 H-InvDB: AMPH

    (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 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.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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