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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:102887336-102897200 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 66.48 cM, cytoband D
  • Mapping Data
    21 experiments
  • Sequence Tags
    D11Nds5, D11Nds7
Strain
Comparison
more
  • SNPs within 2kb
    142 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    14
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95697
 protein coding gene Chr11:102887336-102900912 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019249
 protein coding gene Chr11:105917887-105931017 (-)
A/J MGP_AJ_G0019217
 protein coding gene Chr11:101431426-101444578 (-)
AKR/J MGP_AKRJ_G0019186
 protein coding gene Chr11:104563814-104577699 (-)
BALB/cJ MGP_BALBcJ_G0019191
 protein coding gene Chr11:101907603-101921148 (-)
C3H/HeJ MGP_C3HHeJ_G0019000
 protein coding gene Chr11:104785355-104803424 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019640
 protein coding gene Chr11:109196337-109210888 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017266
 protein coding gene Chr11:98854365-98867796 (-)
CAST/EiJ MGP_CASTEiJ_G0018554
 protein coding gene Chr11:105791367-105808269 (-)
CBA/J MGP_CBAJ_G0018969
 protein coding gene Chr11:113719289-113740172 (-)
DBA/2J MGP_DBA2J_G0019081
 protein coding gene Chr11:100945243-100959040 (-)
FVB/NJ MGP_FVBNJ_G0019071
 protein coding gene Chr11:100487869-100501389 (-)
LP/J MGP_LPJ_G0019150
 protein coding gene Chr11:106434855-106451585 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019102
 protein coding gene Chr11:113169939-113183460 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019678
 protein coding gene Chr11:104945569-104959091 (-)
PWK/PhJ MGP_PWKPhJ_G0018317
 protein coding gene Chr11:102016565-102030289 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018109
 protein coding gene Chr11:104710456-104724696 (-)
WSB/EiJ MGP_WSBEiJ_G0018603
 protein coding gene Chr11:104938939-104952418 (-)



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
less
  • Phenotype Summary
    25 phenotypes from 10 alleles in 5 genetic backgrounds
    37 phenotypes from multigenic genotypes
    69 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    38
  • GO References
    38
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    682
  • Tissues
    259
  • cDNA Data
    250
  • Literature Summary
    844
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14580 NCBI Gene Model | MGI Sequence Detail 9865 C57BL/6J ±  kb
    transcript NM_010277 RefSeq | MGI Sequence Detail 2733 C57BL/6  
    polypeptide P03995 UniProt | EBI | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 277
      Genomic 5
      cDNA 250
      Primer pair 19
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10055, MGI:2144272
    References
    more
    • Summaries
      All 1034
      Developmental Gene Expression 844
      Diseases 5
      Gene Ontology 38
      Phenotypes 69
    • 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:277247 Vetrivel S, et al., Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Exp Eye Res. 2019 Apr 13;
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/05/2019
    MGI 6.14     		The Jackson Laboratory