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Gfap Gene Detail
Summary
  • Symbol
    Gfap
  • Name
    glial fibrillary acidic protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:95697
    NCBI Gene: 14580
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:102887336-102900912 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13577 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 66.48 cM, cytoband D
  • Mapping Data
    21 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    GFAP, glial fibrillary acidic protein
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GFAP, glial fibrillary acidic protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALXDRD
  • Links
    NCBI Gene ID: 2670
    neXtProt AC: NX_P14136
    UniProt: P14136

  • Chr Location
    17q21.31; chr17:44905626-44915552 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gfap mouse models; 1 with human GFAP associations

Human Disease Mouse Models
      
IDs
View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 10 alleles in 5 genetic backgrounds
    37 phenotypes from multigenic genotypes
    67 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.
Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000003084 VEGA Gene Model | MGI Sequence Detail 13577 C57BL/6J ±  kb
    transcript OTTMUST00000006346 VEGA | MGI Sequence Detail 2648 Not Applicable  
    polypeptide OTTMUSP00000002989 VEGA | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      166 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 273
      Genomic 5
      cDNA 249
      Primer pair 17
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10055, MGI:2144272
    References
    more
    • Summaries
      All 961
      Developmental Gene Expression 779
      Diseases 5
      Gene Ontology 36
      Phenotypes 67
    • Earliest
      J:7424 Lewis SA, et al., Sequence of a cDNA clone encoding mouse glial fibrillary acidic protein: structural conservation of intermediate filaments. Proc Natl Acad Sci U S A. 1984 May;81(9):2743-6
    • Latest
      J:258230 Leferink PS, et al., Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. Glia. 2018 Apr;66(4):862-873

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory