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Ada Gene Detail
Summary
  • Symbol
    Ada
  • Name
    adenosine deaminase
  • Feature Type
    protein coding gene
  • IDs
    MGI:87916
    NCBI Gene: 11486
  • Gene Overview
    MyGene.info: ADA
Location & Maps
more
  • Sequence Map
    Chr2:163726584-163750239 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23656 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 84.44 cM, cytoband H3
  • Mapping Data
    53 experiments
Homology
more
  • Human Ortholog
    ADA, adenosine deaminase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ADA, adenosine deaminase
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 100
    neXtProt AC: NX_P00813

  • Chr Location
    20q13.12; chr20:44619522-44652233 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Ada mouse models; 1 with human ADA associations

Human Disease Mouse Models
       Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency   OMIM: 102700 View 1 model
       Priapism, Familial Idiopathic   OMIM: 176620 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 4 alleles in 4 genetic backgrounds
    4 images
    41 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.
Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA deficiency.
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 OTTMUSG00000001154 VEGA Gene Model | MGI Sequence Detail 23656 C57BL/6J ±  kb
transcript OTTMUST00000002247 VEGA | MGI Sequence Detail 1688 Not Applicable  
polypeptide OTTMUSP00000001096 VEGA | MGI Sequence Detail 352 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    434 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 125
    Genomic 33
    cDNA 87
    Primer pair 3
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-1104
References
more
  • Summaries
    All 139
    Developmental Gene Expression 11
    Diseases 3
    Gene Ontology 37
    Phenotypes 41
  • Earliest
    J:7486 Siciliano MJ, et al., Regional assignment of ADA and ITPA to mouse chromosome 2 (C1----ter). A demonstration of the conserved linkage of enzyme and proto-oncogene loci. J Hered. 1984 May-Jun;75(3):175-80
  • Latest
    J:234143 Iriyama T, et al., Elevated placental adenosine signaling contributes to the pathogenesis of preeclampsia. Circulation. 2015 Feb 24;131(8):730-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory