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

AMPH Gene

protein-coding   GIFtS: 65
GCID: GC07M038423

amphiphysin

(Previous names: amphiphysin (Stiff-Mann syndrome with breast cancer 128kD...)
 Explore 41 diseases affiliated with
AMPH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AMPH    

Aliases
for AMPH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Amphiphysin1
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


Summaries
for AMPH gene

(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:
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)

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)


Genomic Views
for AMPH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  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:
 38,423,305 bp from pter      End:
 38,671,167 bp from pter
Size:
 247,863 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 38,460,977-38,708,687     

Proteins
for AMPH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49418

    • AMPH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000317441   ENSP00000348602   ENSP00000415085   ENSP00000400404   ENSP00000390734  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: AMPH
    OriGene Protein Over-expression Lysate: AMPH
    OriGene Custom Protein Services for AMPH 
    GenScript Custom Purified and Recombinant Proteins Services for AMPH
    Novus Biologicals AMPH Protein
    Novus Biologicals AMPH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AMPH

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--


    AMPH for ontologies           About GeneDecksing



    AMPH Antibody Products: 
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    GenScript Superior Antibodies for AMPH
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    Abcam antibodies for AMPH 
    Uscn Antibodies for AMPH
    ThermoFisher Antibodies for AMPH

    Assay Products for AMPH: 
    Browse Kits and Assays available from EMD Millipore
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    Uscn ELISAs and CLIAs for AMPH

    Protein Domains /
    Families
    for AMPH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AMPH for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011511 SH3_2
     IPR003017 Amphiphysin_1
     IPR001452 SH3_domain
     IPR004148 BAR_dom
     IPR003005 Amphiphysin

    Graphical View of Domain Structure for InterPro Entry P49418

    ProtoNet protein and cluster: P49418

    3 Blocks protein families:
    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


    Function
    for AMPH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): AMPH
    Browse MicroRNA Expression Plasmids
    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 plasmid: AMPH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPH (see all 7)
    OriGene shRNA RFP: AMPH
    OriGene siRNA: AMPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AMPH

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPH (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMPH (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): AMPH (NM_001635)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPH 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for AMPH
    Search LifeMap BioReagents cell lines for AMPH

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008022protein C-terminus binding ----
    GO:0019904protein domain specific binding IEA--
    GO:0046982protein heterodimerization activity ----


    AMPH for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AMPH:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Amphtm1Pdc for AMPH
         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


    Pathways & Interactions
    for AMPH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Internalization of ErbB1
    		Internalization of ErbB11.00
    2Fc gamma R-mediated phagocytosis
    		Fc gamma R-mediated phagocytosis1.00
    3Monoamine Transport
    		Monoamine Transport1.00
    4Erythropoietin Pathway
    		CDK5 Pathway0.21

    Pathway sources
    See GeneCards unified pathways
    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)

    5/65 Interacting proteins for AMPH (P494182, 3 ENSP000003486024) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis TAS9182667
    GO:0007268synaptic transmission TAS9182667
    GO:0007612learning IEA--
    GO:0043547positive regulation of GTPase activity ----
    GO:0045807positive regulation of endocytosis ----


    AMPH for ontologies           About GeneDecksing



    Drugs & Compounds
    for AMPH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for AMPH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:             		 OriGene 3'-UTR Clone (see all 2): AMPH
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: AMPH 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPH (see all 7)
    OriGene shRNA RFP: AMPH
    OriGene siRNA: AMPH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPH
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPH (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMPH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPH

    Additional cDNA 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):

    AF034996 F03194 BC034376 NM_001635 AL119578 F03887 AF498092 NM_139316 
    AA933764 AF498096 BI822061 AA620426 Z39467 BM978301 F03327 AF498097 
    BM673566 BM929628 AA757605 AA349856 F06517 F10677 AF498093 F06926 

    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

    Expression
    for AMPH gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATTGCTCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AMPH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    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
    Primer
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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
    for AMPH gene

    (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 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AMPH1 amphiphysin 73.01(n)
    75.19(a)    		   420761  NM_001004398.1  NP_001004398.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AMPH6
    		 --
    		 69(a)
    		 1 ↔ 1
    		 6(47909090-47965002)
    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
    for AMPH gene

    (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


    Genomic Variants
    for AMPH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/4714 NCBI SNPs in AMPH are shown (see all 4714)     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
    		--38423072(+) TCCGTT/CGGCAG 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1826899831,2
    		--38423163(+) GGTGCA/GGTGGG 2 -- ds50010--------
    rs1851539141,2
    		--38423227(+) CTCCAA/GTACCA 2 -- ds50010--------
    rs1898143561,2
    		--38423250(+) AGAGTA/GTCCGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for AMPH (38423305 - 38671167 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for AMPH
         1 CNV: 3676
         8 Indels: 62644 33838 60654 62643 69859 42384 12924 42885

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for AMPH

    Disorders / Diseases
    for AMPH gene

    (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.)
    About This Section
    AMPH for disorders           About GeneDecksing

    OMIM gene information: 600418    OMIM disorders: --

    20/41 diseases for AMPH (see all 41):    About MalaCards
    breast cancer    lambert-eaton myasthenic syndrome    stiff-person syndrome    obsessive-compulsive disorder
    transverse myelitis    limbic encephalitis    paraneoplastic cerebellar degeneration    retinitis pigmentosa 9
    myelitis    cerebellar degeneration    paraneoplastic polyneuropathy    myasthenic syndrome
    gastrointestinal stromal tumor    paraneoplastic syndromes    centronuclear myopathy    retinitis pigmentosa
    myoclonus    motor neuron disease    encephalitis    polyneuropathy

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

    10/12 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: AMPH (2 documents)

    Export disorders for AMPH gene to outside databases

    Publications
    for AMPH gene

    (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 160):
    (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. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O....Rynditch A. (2010)
    6. 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)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. Accessory protein recruitment motifs in clathrin-mediated endocytosis. (PubMed id 12057195)1, 2 Brett T.J.... Fremont D.H. (2002)
    10. Amphiphysin heterodimers: potential role in clathrin-mediated endocytosis. (PubMed id 9348539)1, 9 Wigge P....McMahon H.T. (1997)

    External Searches for AMPH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing AMPH gene

    (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

    Other Databases showing AMPH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AMPH gene

    (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

    Intellectual Property
    for AMPH gene

    (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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    About This Section

     
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