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 the... See more...

Aliases for AMPH Gene

Aliases for AMPH Gene

  • Amphiphysin 2 3 4 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
  • AMPH 5

External Ids for AMPH Gene

Previous GeneCards Identifiers for AMPH Gene

  • GC07M038069
  • GC07M038130
  • GC07M038164
  • GC07M038196
  • GC07M038389
  • GC07M038423
  • GC07M038307
  • GC07M038442
  • GC07M038464
  • GC07M038587
  • GC07M038599
  • GC07M038614
  • GC07M038638
  • GC07M038479
  • GC07M038492
  • GC07M038506
  • GC07M038518
  • GC07M038530
  • GC07M038548
  • GC07M038561
  • GC07M038575

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 Monoamine Transport and Fc gamma R-mediated phagocytosis. Gene Ontology (GO) annotations related to this gene include phospholipid binding. An important paralog of this gene is BIN1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AMPH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMPH Gene

Genomics for AMPH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMPH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J038630 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 666 1.8 PRDM10 ZNF629 PRDM1 ZIC2 POLR2A PATZ1 ZNF501 EZH2 ZNF341 KLF9 AMPH RF00017-6127 TRG
GH07J038429 Promoter 0.3 EPDnew 600.1 +202.3 202304 0.1 AMPH FAM183BP L13714-407 lnc-VPS41-6 TRG
GH07J038463 Enhancer 0.4 ENCODE 55.7 +168.0 167955 1 NFIC JUNB BCL6B AMPH FAM183BP piR-38352-511 L13714-407 TRG
GH07J038452 Enhancer 0.4 Ensembl ENCODE 45 +178.5 178516 1.5 CTCF AMPH TRGV5P L13714-407 piR-38352-511 TRG
GH07J038433 Enhancer 0.4 ENCODE 41.9 +197.6 197635 0.3 CTCF RAD21 SMC3 TRIM22 L13714-407 AMPH FAM183BP piR-38352-511 TRG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMPH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMPH

Top Transcription factor binding sites by QIAGEN in the AMPH gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 4
  • CUTL1
  • p53

Genomic Locations for AMPH Gene

Genomic Locations for AMPH Gene
chr7:38,383,694-38,631,567
(GRCh38/hg38)
Size:
247,874 bases
Orientation:
Minus strand
chr7:38,423,297-38,671,167
(GRCh37/hg19)
Size:
247,871 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 (By similarity). Binds SH3GLB1 (By similarity). Interacts with REPS1 and SGIP1(PubMed:20946875). Binds AP2A2 (PubMed:12057195). Interacts with AP2B1 (PubMed:16903783). Interacts with DNM1 AND SYNJ1 (By similarity).
    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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for AMPH Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Amphiphysin signature
  • Amphiphysin isoform 1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for AMPH Gene

GenScript: Design optimal peptide antigens:
  • Amphiphysin (AMPH_HUMAN)
  • Amphiphysin I variant NT2 (Q8NFL3_HUMAN)
  • Amphiphysin I variant NC1 (Q8NFL4_HUMAN)
  • Amphiphysin I variant CT5 (Q8NFL5_HUMAN)
  • Amphiphysin I variant CT4 (Q8NFL6_HUMAN)
genes like me logo Genes that share domains with AMPH: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AMPH Gene

Function for AMPH Gene

Molecular function for AMPH Gene

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.
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

Phenotypes From GWAS Catalog for AMPH Gene

Gene Ontology (GO) - Molecular Function for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,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

CRISPR Products

miRNA for AMPH Gene

miRTarBase miRNAs that target AMPH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPH

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMPH gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3
endosome 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0008021 synaptic vesicle TAS,IBA 21873635
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
  • CDK5 Pathway

SIGNOR curated interactions for AMPH Gene

Is activated by:
Is inactivated by:
Other effect:

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:0048488 synaptic vesicle endocytosis IBA 21873635
GO:0061024 membrane organization TAS --
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

mRNA/cDNA for AMPH Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMPH

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

Expression for AMPH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for AMPH Gene

  • Nervous system(5)
  • Blood(3.1)
  • Muscle(2.5)
  • Kidney(2.3)
  • Eye(2.3)
  • Pancreas(2.3)
  • Skin(2.2)
  • Heart(2.1)
  • Thyroid gland(2.1)
  • Liver(2.1)
  • Adrenal gland(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with AMPH: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPH Gene

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 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMPH 30 31
  • 89.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMPH 30 31
  • 87.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amph 30
  • 85.58 (n)
Mouse
(Mus musculus)
Mammalia Amph 30 17 31
  • 84.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AMPH 31
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AMPH 31
  • 35 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMPH 30 31
  • 72.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMPH 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amph 30
  • 67.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14350 30
Zebrafish
(Danio rerio)
Actinopterygii amph 30 31
  • 62.51 (n)
OneToOne
zgc73193 30
Fruit Fly
(Drosophila melanogaster)
Insecta Amph 31 32
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea amph-1 30 31
  • 48.19 (n)
OneToMany
F58G6.1 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3172 31
  • 25 (a)
OneToMany
Species where no ortholog for AMPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMPH: view image

Paralogs for AMPH Gene

Paralogs for AMPH Gene

(2) SIMAP similar genes for AMPH Gene using alignment to 10 proteins:

  • AMPH_HUMAN
  • F5H533_HUMAN
  • H0Y5S4_HUMAN
  • H0Y7T8_HUMAN
  • Q8NFL3_HUMAN
  • Q8NFL4_HUMAN
  • Q8NFL5_HUMAN
  • Q8NFL6_HUMAN
  • Q8NFL7_HUMAN
  • Q8NFL8_HUMAN

Pseudogenes.org Pseudogenes for AMPH Gene

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

Variants for AMPH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMPH Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
711336 Likely Benign: not provided 38,391,869(-) G/A MISSENSE_VARIANT
722907 Likely Benign: not provided 38,534,939(-) G/A MISSENSE_VARIANT
723805 Likely Benign: not provided 38,432,190(-) G/A MISSENSE_VARIANT
727314 Likely Benign: not provided 38,463,011(-) C/T SYNONYMOUS_VARIANT
731328 Benign: not provided 38,394,163(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AMPH Gene

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)

Additional Variant Information for AMPH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMPH Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search AMPH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMPH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … De Camilli P (Molecular medicine (Cambridge, Mass.) 1998) 3 4 23
  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 MW (Human molecular genetics 1995) 3 4 23
  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 letters 1994) 3 4 23
  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 MW (The Journal of experimental medicine 1993) 2 3 23
  5. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O … Rynditch A (Biochemical and biophysical research communications 2010) 3 4

Products for AMPH Gene

  • Signalway Proteins for AMPH

Sources for AMPH Gene