About   Help   FAQ
Ampd2 Gene Detail
Summary
  • Symbol
    Ampd2
  • Name
    adenosine monophosphate deaminase 2
  • Synonyms
    1200014F01Rik, Ampd-2, m4521Dajl
  • Feature Type
    protein coding gene
  • IDs
    MGI:88016
    NCBI Gene: 109674
  • Gene Overview
    MyGene.info: AMPD2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:108074062-108086651 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 46.83 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    45 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88016
protein coding gene Chr3:108074061-108086666 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027764
protein coding gene Chr3:109606660-109619249 (-)
A/J MGP_AJ_G0027724
protein coding gene Chr3:106131659-106144248 (-)
AKR/J MGP_AKRJ_G0027689
protein coding gene Chr3:108718458-108731047 (-)
BALB/cJ MGP_BALBcJ_G0027736
protein coding gene Chr3:105835147-105847736 (-)
C3H/HeJ MGP_C3HHeJ_G0027466
protein coding gene Chr3:109059175-109071764 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028180
protein coding gene Chr3:113700166-113712755 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025518
protein coding gene Chr3:102284520-102297328 (-)
CAST/EiJ MGP_CASTEiJ_G0026922
protein coding gene Chr3:108438868-108451474 (-)
CBA/J MGP_CBAJ_G0027441
protein coding gene Chr3:117567282-117579871 (-)
DBA/2J MGP_DBA2J_G0027583
protein coding gene Chr3:105314991-105327580 (-)
FVB/NJ MGP_FVBNJ_G0027551
protein coding gene Chr3:103201776-103214365 (-)
LP/J MGP_LPJ_G0027690
protein coding gene Chr3:111025690-111038279 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027581
protein coding gene Chr3:123638738-123651327 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028235
protein coding gene Chr3:108311330-108324013 (-)
PWK/PhJ MGP_PWKPhJ_G0026648
protein coding gene Chr3:105063227-105075937 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026468
protein coding gene Chr3:106446592-106459104 (-)
WSB/EiJ MGP_WSBEiJ_G0027002
protein coding gene Chr3:108841683-108854272 (-)



Homology
more
  • Human Ortholog
    AMPD2, adenosine monophosphate deaminase 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AMPD2, adenosine monophosphate deaminase 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PCH9, SPG63
  • Links
    NCBI Gene ID: 271
    neXtProt AC: NX_Q01433
    UniProt: Q01433

  • Chr Location
    1p13.3; chr1:109619813-109632055 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human AMPD2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    15 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 knock-out allele exhibit proteinuria, tubules filled with protein casts and podocyte process effacement.
Gene Ontology
(GO)
Classifications
less
  • 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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027889 Ensembl Gene Model | MGI Sequence Detail 12590 C57BL/6J ±  kb
    transcript ENSMUST00000078912 Ensembl | MGI Sequence Detail 3368 Not Applicable  
    polypeptide ENSMUSP00000077946 Ensembl | MGI Sequence Detail 824 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1308, MGD-MRK-1310, MGI:1921388, MGI:2139756, MGI:3848343
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:10446 Moseley WS, et al., Ampd-2 maps to distal mouse chromosome 3 in linkage with Ampd-1. Genomics. 1990 Mar;6(3):572-4
    • Latest
      J:223083 Helmering J, et al., A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice. Lipids Health Dis. 2014;13:167

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/27/2018
    MGI 6.13
    The Jackson Laboratory