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Showing content from http://www.informatics.jax.org/marker/MGI:87916 below:

Ada MGI Mouse Gene Detail - MGI:87916

Summary

• Symbol

  Ada

• Name

  adenosine deaminase

• Feature Type

  protein coding gene

• IDs

  MGI:87916

  NCBI Gene:

  11486

• Alliance

• Transcription Start Sites

  4 TSS

Location &
Maps

more

• Sequence Map

  Chr2:163568504-163592159 bp, - strand

  From Ensembl annotation of GRCm39

  
  

• Genome Browsers

• Genetic Map

  Chromosome 2, 84.44 cM, cytoband H3

• Mapping Data

Strain

Comparison

more

• SNPs within 2kb

  1708 from dbSNP Build 142

• Strain Annotations

  18

• PCR

• RFLP

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

• Chr Location

  20q13.12; chr20:44584896-44652252 (-)  GRCh38

• MGI Vertebrate Homology

• HCOP

  vertebrate homology predictions:

  ADA

• Gene Tree

Human Diseases

more

• Diseases

  1 with Ada mouse models; 6 with human ADA associations

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

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

• All Mutations and Alleles

• Endonuclease-mediated

• Targeted

• Transgenic

• Incidental Mutations

• Find Mice (IMSR)

• Comparison Matrix

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

• 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 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

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

• Blue cells = expressed in wild-type.
  Gray triangles = other expression annotations only
  (e.g. absence of expression or data from mutants).

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

• Other Mouse Links

• Other Vertebrate Links

Sequences &
Gene Models

less

• All Sequences

• RefSeq

• UniProt

• CCDS

• Ensembl

• NCBI Gene

Protein
Information

less

• UniProt

• Protein Ontology

• PDB

  1A4L

  ,

  1A4M

  ,

  1ADD

  ,

  1FKW

  ,

  1FKX

  ,

  1UIO

  ,

  1UIP

  ,

  2ADA

  ,

  3KM8

  ,

  3MVI

  ,

  3MVT

  ,

  3T1G

• EC

• InterPro Domains

  IPR006650

  Adenosine/AMP deaminase active site

References

more

• Summaries

  Developmental Gene Expression

  11

• 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

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