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Gene : GFAP Homo sapiens

Name  ? glial fibrillary acidic protein Cytological Location  17q21.31
Brief Description  glial fibrillary acidic protein
Description  This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
  • synonyms:
  • FLJ45472,
  • GFAP,
  • S40719,
  • NM_002055,
  • intermediate filament protein,
  • HGNC:4235,
  • ALXDRD,
  • uc002ihq.3,
  • OTTHUMG00000179866
  • identifiers:
  • 2670,
  • ENSG00000131095,
  • GFAP

Genome feature

Region: gene ? Length: 12394  
Location: 17:44903159-44915552 reverse strand Cyto location: 17q21.31


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

200 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results