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Ada Gene Detail
Summary
  • Symbol
    Ada
  • Name
    adenosine deaminase
  • Feature Type
    protein coding gene
  • IDs
    MGI:87916
    NCBI Gene: 11486
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:163568504-163592159 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 84.44 cM, cytoband H3
  • Mapping Data
    53 experiments
Strain
Comparison
more
  • SNPs within 2kb
    885 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    11
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87916
 protein coding gene Chr2:163565703-163592159 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026829
 protein coding gene Chr2:169089072-169114702 (-)
A/J MGP_AJ_G0026795
 protein coding gene Chr2:162269136-162292785 (-)
AKR/J MGP_AKRJ_G0026766
 protein coding gene Chr2:167067810-167091459 (-)
BALB/cJ MGP_BALBcJ_G0026804
 protein coding gene Chr2:162607597-162631246 (-)
C3H/HeJ MGP_C3HHeJ_G0026546
 protein coding gene Chr2:167417618-167441269 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027252
 protein coding gene Chr2:174017734-174041389 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024622
 protein coding gene Chr2:155571153-155594952 (-)
CAST/EiJ MGP_CASTEiJ_G0026007
 protein coding gene Chr2:167822614-167846604 (-)
CBA/J MGP_CBAJ_G0026523
 protein coding gene Chr2:180299297-180322946 (-)
DBA/2J MGP_DBA2J_G0026661
 protein coding gene Chr2:161435562-161459213 (-)
FVB/NJ MGP_FVBNJ_G0026627
 protein coding gene Chr2:159809564-159833213 (-)
LP/J MGP_LPJ_G0026764
 protein coding gene Chr2:169208337-169233034 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026649
 protein coding gene Chr2:183961159-183984812 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027308
 protein coding gene Chr2:166965672-166989325 (-)
PWK/PhJ MGP_PWKPhJ_G0025741
 protein coding gene Chr2:161004205-161027912 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025544
 protein coding gene Chr2:165838083-165861493 (-)
WSB/EiJ MGP_WSBEiJ_G0026077
 protein coding gene Chr2:167815166-167840592 (-)



Homology
more
  • Human Ortholog
    ADA, adenosine deaminase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ADA, adenosine deaminase
  • Synonyms
    ADA1
  • Links
    NCBI Gene ID: 100
    neXtProt AC: NX_P00813
    UniProt: P00813

  • Chr Location
    20q13.12; chr20:44584896-44652252 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ada mouse models; 6 with human ADA associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 4 alleles in 4 genetic backgrounds
    12 phenotypes from multigenic genotypes
    4 images
    51 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
less
  • All GO Annotations
    175
  • GO References
    46
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1064
  • Tissues
    151
  • cDNA Data
    87
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000017697 Ensembl Gene Model | MGI Sequence Detail 23656 C57BL/6J ±  kb
    transcript ENSMUST00000017841 Ensembl | MGI Sequence Detail 1688 Not Applicable  
    polypeptide ENSMUSP00000017841 Ensembl | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 127
      Genomic 33
      cDNA 88
      Primer pair 3
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1104
    References
    more
    • Summaries
      All 160
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 46
      Phenotypes 51
    • Earliest
      J:297469 Trams EG, et al., Adenosine deaminase of cultured brain cells. Biochem J. 1975 Dec;152(3):681-7
    • Latest
      J:324800 Moretti FA, et al., Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy. Sci Rep. 2021 Dec 1;11(1):23221
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory