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Amph Gene Detail
Summary
  • Symbol
    Amph
  • Name
    amphiphysin
  • Feature Type
    protein coding gene
  • IDs
    MGI:103574
    NCBI Gene: 218038
  • Gene Overview
    MyGene.info: AMPH
Location & Maps
more
  • Sequence Map
    Chr13:18948351-19150915 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      202565 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 6.89 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AMPH, amphiphysin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    AMPH, amphiphysin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AMPH1
  • Links
    NCBI Gene ID: 273
    neXtProt AC: NX_P49418

  • Chr Location
    7p14-p13; chr7:38383694-38631567 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 121585
    1 human;1 mouse;2 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: AMPH
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Amph
  • Incidental Mutations
Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054291 VEGA Gene Model | MGI Sequence Detail 202565 C57BL/6J ±  kb
transcript OTTMUST00000134721 VEGA | MGI Sequence Detail 3224 Not Applicable  
polypeptide OTTMUSP00000071421 VEGA | MGI Sequence Detail 690 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1804 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 48
    cDNA 47
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-24459
References
more
  • Summaries
    All 41
    Developmental Gene Expression 8
    Gene Ontology 9
    Phenotypes 12
  • Earliest
    J:28029 Jenkins NA, et al., Amphiphysin (Amph) maps to the proximal region of mouse chromosome 13. Genomics. 1995 Jul 20;28(2):363-5
  • Latest
    J:219295 Milanese M, et al., Exocytosis regulates trafficking of GABA and glycine heterotransporters in spinal cord glutamatergic synapses: a mechanism for the excessive heterotransporter-induced release of glutamate in experimental amyotrophic lateral sclerosis. Neurobiol Dis. 2015 Feb;74:314-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory