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Aliases for AMPH Gene

Aliases for AMPH Gene

  • Amphiphysin 2 3 3 5
  • Amphiphysin (Stiff-Mann Syndrome With Breast Cancer 128kD Autoantigen) 2 3
  • AMPH1 3 4
  • Amphiphysin (Stiff-Man Syndrome With Breast Cancer 128kDa Autoantigen) 2
  • Amphiphysin I 3

External Ids for AMPH Gene

Previous GeneCards Identifiers for AMPH Gene

  • GC07M038069
  • GC07M038130
  • GC07M038164
  • GC07M038196
  • GC07M038389
  • GC07M038423
  • GC07M038307
  • GC07M038442
  • GC07M038464
  • GC07M038479
  • GC07M038492

Summaries for AMPH Gene

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 Stiff-Person Syndrome and Limbic Encephalitis. Among its related pathways are Internalization of ErbB1 and Vesicle-mediated transport. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is BIN1.

UniProtKB/Swiss-Prot for AMPH Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPH Gene

Genomics for AMPH Gene

Regulatory Elements for AMPH Gene

Enhancers for AMPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F038463 1.1 Ensembl ENCODE 55.7 +168.0 167955 1.0 STAT1 STAT2 JUNB FOS IRF1 AMPH FAM183BP RN7SL83P TRGV1
GH07F038433 0.5 ENCODE 41.9 +197.6 197635 0.3 CTCF PBX2 RAD21 AMPH FAM183BP TRGV1 RN7SL83P
GH07F038584 0.7 ENCODE 15.9 +47.0 46962 0.2 FOS AMPH GC07M038532
GH07F038393 0.7 FANTOM5 Ensembl 14.2 +236.9 236930 1.7 CTCF PBX2 RAD21 AMPH TRGV5 STARD3NL TARP TRGV1 RN7SL83P
GH07F038424 0.9 Ensembl ENCODE 13.8 +205.9 205907 1.7 CTCF PKNOX1 SMC3 AMPH TRGV5 FAM183BP TRGV1 RN7SL83P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMPH on UCSC Golden Path with GeneCards custom track

Promoters for AMPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001891077 467 1400 PKNOX1 ZNF76 FEZF1 GLIS2 ZNF366 KLF7 EGR2 ZNF263 SP3 YY2

Genomic Location for AMPH Gene

Chromosome:
7
Start:
38,383,694 bp from pter
End:
38,631,567 bp from pter
Size:
247,874 bases
Orientation:
Minus strand

Genomic View for AMPH Gene

Genes around AMPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMPH Gene

Proteins for AMPH Gene

  • Protein details for AMPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49418-AMPH_HUMAN
    Recommended name:
    Amphiphysin
    Protein Accession:
    P49418
    Secondary Accessions:
    • A4D1X8
    • A4D1X9
    • O43538
    • Q75MJ8
    • Q75MK5
    • Q75MM3
    • Q8N4G0

    Protein attributes for AMPH Gene

    Size:
    695 amino acids
    Molecular mass:
    76257 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for AMPH Gene

    Alternative splice isoforms for AMPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMPH Gene

Post-translational modifications for AMPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AMPH Gene

Domains & Families for AMPH Gene

Gene Families for AMPH Gene

Graphical View of Domain Structure for InterPro Entry

P49418

UniProtKB/Swiss-Prot:

AMPH_HUMAN :
  • Contains 1 BAR domain.
Domain:
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with AMPH: view

Function for AMPH Gene

Molecular function for AMPH Gene

GENATLAS Biochemistry:
amphiphysin,nerve terminal,synaptic vesicle associated antigen,involved in synaptic vesicle endocytosis in the nerve terminals,by binding to the coat protein adaptor
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding IPI 17762867
GO:0005543 phospholipid binding IDA 22750946
genes like me logo Genes that share ontologies with AMPH: view
genes like me logo Genes that share phenotypes with AMPH: view

Animal Models for AMPH Gene

MGI Knock Outs for AMPH:

Animal Model Products

miRNA for AMPH Gene

miRTarBase miRNAs that target AMPH

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMPH Gene

Localization for AMPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMPH Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMPH Gene COMPARTMENTS Subcellular localization image for AMPH gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
golgi apparatus 4
endosome 2
nucleus 2
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005802 trans-Golgi network IBA --
GO:0005856 cytoskeleton IEA --
GO:0008021 synaptic vesicle TAS 1628617
GO:0015629 actin cytoskeleton TAS 9182667
genes like me logo Genes that share ontologies with AMPH: view

Pathways & Interactions for AMPH Gene

genes like me logo Genes that share pathways with AMPH: view

Pathways by source for AMPH Gene

2 KEGG pathways for AMPH Gene
1 Qiagen pathway for AMPH Gene

SIGNOR curated interactions for AMPH Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis TAS 9182667
GO:0007268 chemical synaptic transmission TAS 9182667
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with AMPH: view

Drugs & Compounds for AMPH Gene

(3) Drugs for AMPH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for AMPH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AMPH: view

Transcripts for AMPH Gene

Unigene Clusters for AMPH Gene

Amphiphysin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMPH Gene

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

Relevant External Links for AMPH Gene

GeneLoc Exon Structure for
AMPH
ECgene alternative splicing isoforms for
AMPH

Expression for AMPH Gene

mRNA expression in normal human tissues for AMPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMPH Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x5.4), and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for AMPH Gene

This gene is overexpressed in Brain (41.4) and Frontal cortex (21.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AMPH Gene



Protein tissue co-expression partners for AMPH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AMPH Gene:

AMPH

SOURCE GeneReport for Unigene cluster for AMPH Gene:

Hs.592182

mRNA Expression by UniProt/SwissProt for AMPH Gene:

P49418-AMPH_HUMAN
Tissue specificity: Neurons, certain endocrine cell types and spermatocytes.
genes like me logo Genes that share expression patterns with AMPH: view

Primer Products

Orthologs for AMPH Gene

This gene was present in the common ancestor of animals.

Orthologs for AMPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMPH 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia AMPH 34 35
  • 89.07 (n)
dog
(Canis familiaris)
Mammalia AMPH 34 35
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Amph 34
  • 85.58 (n)
mouse
(Mus musculus)
Mammalia Amph 34 16 35
  • 84.84 (n)
oppossum
(Monodelphis domestica)
Mammalia AMPH 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMPH 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMPH 34 35
  • 72.81 (n)
lizard
(Anolis carolinensis)
Reptilia AMPH 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amph 34
  • 67.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14350 34
zebrafish
(Danio rerio)
Actinopterygii amph 34 35
  • 62.51 (n)
zgc73193 34
fruit fly
(Drosophila melanogaster)
Insecta Amph 36 35
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea amph-1 34 35
  • 48.19 (n)
F58G6.1 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 35
  • 25 (a)
OneToMany
Species where no ortholog for AMPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMPH Gene

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

Paralogs for AMPH Gene

Paralogs for AMPH Gene

Pseudogenes.org Pseudogenes for AMPH Gene

genes like me logo Genes that share paralogs with AMPH: view

Variants for AMPH Gene

Sequence variations from dbSNP and Humsavar for AMPH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10085389 -- 38,482,996(+) CAAGT(A/G)CAAAT intron-variant
rs1014570 -- 38,471,187(+) TGACC(C/T)TGAGT intron-variant
rs1014571 -- 38,471,295(+) GGTGG(C/T)TTTAC intron-variant
rs1014572 -- 38,471,659(+) gagca(C/G)agcaa intron-variant
rs10155824 -- 38,588,722(+) ATAAT(C/T)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMPH Gene

Variant ID Type Subtype PubMed ID
dgv429e215 CNV deletion 23714750
esv1006794 CNV deletion 20482838
esv1768159 CNV deletion 17803354
esv1963446 CNV deletion 18987734
esv2671086 CNV deletion 23128226
esv2734289 CNV deletion 23290073
esv2734290 CNV deletion 23290073
esv2734291 CNV deletion 23290073
esv2734292 CNV deletion 23290073
esv2759524 CNV loss 17122850
esv28274 CNV gain 19812545
esv3098957 CNV deletion 24192839
esv3309683 CNV mobile element insertion 20981092
esv3362320 CNV insertion 20981092
esv3442986 CNV insertion 20981092
esv3444935 CNV insertion 20981092
esv3541508 CNV deletion 23714750
esv3541509 CNV deletion 23714750
esv3541512 CNV deletion 23714750
esv3571802 CNV loss 25503493
esv3612883 CNV loss 21293372
esv3612887 CNV loss 21293372
esv4081 CNV loss 18987735
esv5062 CNV loss 18987735
esv6390 CNV gain 19470904
esv9559 CNV loss 19470904
esv9560 CNV loss 19470904
nsv1018890 CNV loss 25217958
nsv1118021 CNV deletion 24896259
nsv1137213 CNV deletion 24896259
nsv1150880 CNV deletion 26484159
nsv365971 CNV deletion 16902084
nsv366413 CNV deletion 16902084
nsv366791 CNV insertion 16902084
nsv526627 CNV loss 19592680
nsv606674 CNV loss 21841781
nsv8079 CNV loss 18304495
nsv830965 CNV gain 17160897
nsv830966 CNV gain 17160897
nsv957593 CNV deletion 24416366
nsv957594 CNV deletion 24416366

Variation tolerance for AMPH Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMPH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPH Gene

Disorders for AMPH Gene

MalaCards: The human disease database

(10) MalaCards diseases for AMPH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stiff-person syndrome
  • stiff man syndrome
limbic encephalitis
breast cancer
  • breast cancer, invasive ductal
retinitis pigmentosa 9
  • rp9
paraneoplastic polyneuropathy
- elite association - COSMIC cancer census association via MalaCards
Search AMPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for AMPH

Genetic Association Database (GAD)
AMPH
Human Genome Epidemiology (HuGE) Navigator
AMPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMPH
genes like me logo Genes that share disorders with AMPH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMPH Gene

Publications for AMPH Gene

  1. Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. (PMID: 9513187) Floyd S.R. … De Camilli P.V. (Mol. Med. 1998) 3 4 22 64
  2. Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (PMID: 7757077) Yamamoto R. … Kilimann M.W. (Hum. Mol. Genet. 1995) 3 4 22 64
  3. 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. (PMID: 8076697) David C. … de Camilli P. (FEBS Lett. 1994) 3 4 22 64
  4. The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. (PMID: 8245793) De Camilli P. … Kilimann M.W. (J. Exp. Med. 1993) 2 3 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for AMPH Gene

  • Addgene plasmids for AMPH

Sources for AMPH Gene

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