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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:18948205-19150921 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 6.89 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1804 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103574
protein coding gene Chr13:18948137-19154032 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020257
protein coding gene Chr13:16064968-16253528 (+)
A/J MGP_AJ_G0020214
protein coding gene Chr13:15849394-16040311 (+)
AKR/J MGP_AKRJ_G0020188
protein coding gene Chr13:16047464-16238420 (+)
BALB/cJ MGP_BALBcJ_G0020200
protein coding gene Chr13:15807368-16005633 (+)
C3H/HeJ MGP_C3HHeJ_G0020003
protein coding gene Chr13:16170993-16360940 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020644
protein coding gene Chr13:16750345-16953284 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018251
protein coding gene Chr13:14306055-14496162 (+)
CAST/EiJ MGP_CASTEiJ_G0019538
protein coding gene Chr13:15906817-16103355 (+)
CBA/J MGP_CBAJ_G0019967
protein coding gene Chr13:17320153-17521672 (+)
DBA/2J MGP_DBA2J_G0020086
protein coding gene Chr13:15427457-15621511 (+)
FVB/NJ MGP_FVBNJ_G0020068
protein coding gene Chr13:15115449-15307072 (+)
LP/J MGP_LPJ_G0020157
protein coding gene Chr13:16356343-16547714 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020106
protein coding gene Chr13:17696143-17915771 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020673
protein coding gene Chr13:15844698-16046608 (+)
PWK/PhJ MGP_PWKPhJ_G0019301
protein coding gene Chr13:15482957-15673197 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019107
protein coding gene Chr13:14983636-15173171 (+)
WSB/EiJ MGP_WSBEiJ_G0019597
protein coding gene Chr13:15882728-16081529 (+)



Homology
more
  • Human Ortholog
    AMPH, amphiphysin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    AMPH, amphiphysin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AMPH1
  • Links
    NCBI Gene ID: 273
    neXtProt AC: NX_P49418
    UniProt: P49418

  • Chr Location
    7p14.1; chr7:38383694-38631567 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 121585
    1 human;1 mouse;2 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000021314 Ensembl Gene Model | MGI Sequence Detail 202717 C57BL/6J ±  kb
transcript ENSMUST00000200466 Ensembl | MGI Sequence Detail 3224 Not Applicable  
polypeptide ENSMUSP00000142766 Ensembl | MGI Sequence Detail 690 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 49
    cDNA 48
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-24459
References
more
  • Summaries
    All 50
    Developmental Gene Expression 10
    Gene Ontology 11
    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:264384 Ramalingam H, et al., Disparate levels of beta-catenin activity determine nephron progenitor cell fate. Dev Biol. 2018 Aug 1;440(1):13-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory