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Ctla4 Gene Detail
Summary
  • Symbol
    Ctla4
  • Name
    cytotoxic T-lymphocyte-associated protein 4
  • Synonyms
    Cd152, Ctla-4, Ly-56
  • Feature Type
    protein coding gene
  • IDs
    MGI:88556
    NCBI Gene: 12477
  • Gene Overview
    MyGene.info: CTLA4
Location & Maps
more
  • Sequence Map
    Chr1:60887000-60915832 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28833 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 30.58 cM, cytoband C
  • Mapping Data
    46 experiments
Homology
more
  • Human Ortholog
    CTLA4, cytotoxic T-lymphocyte associated protein 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CTLA4, cytotoxic T-lymphocyte associated protein 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12
  • Links
    NCBI Gene ID: 1493
    neXtProt AC: NX_P16410

  • Chr Location
    2q33; chr2:203867788-203873960 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    5 with human CTLA4 associations

Human Disease Mouse Models
       Autoimmune Lymphoproliferative Syndrome, Type V; ALPS5   OMIM: 616100
Celiac Disease, Susceptibility to, 3; CELIAC3   OMIM: 609755
Diabetes Mellitus, Insulin-Dependent, 12; IDDM12   OMIM: 601388
Hashimoto Thyroiditis   OMIM: 140300
Systemic Lupus Erythematosus; SLE   OMIM: 152700
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 5 alleles in 9 genetic backgrounds
    29 phenotypes from multigenic genotypes
    103 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.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    11
  • Transgenic
    1
  • Genomic Mutations
    2 involving Ctla4
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit lethality at 3 to 4 weeks of age, decreased T cell numbers, abnormal T cell physiology, inflammation in mutliple organs, abnormal thymus morphology, and lymph node hypoplasia.
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002278 VEGA Gene Model | MGI Sequence Detail 28833 C57BL/6J ±  kb
transcript OTTMUST00000004524 VEGA | MGI Sequence Detail 1933 Not Applicable  
polypeptide OTTMUSP00000002168 VEGA | MGI Sequence Detail 223 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    265 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 21
    Genomic 2
    cDNA 18
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-2224, MGD-MRK-2234
References
more
  • Summaries
    All 217
    Gene Ontology 6
    Phenotypes 103
  • Earliest
    J:8775 Brunet JF, et al., A new member of the immunoglobulin superfamily--CTLA-4. Nature. 1987 Jul 16-22;328(6127):267-70
  • Latest
    J:232214 Klocke K, et al., Induction of autoimmune disease by deletion of CTLA-4 in mice in adulthood. Proc Natl Acad Sci U S A. 2016 Apr 26;113(17):E2383-92

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
08/17/2016
MGI 6.05
The Jackson Laboratory