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Aliases for GFAP Gene

Aliases for GFAP Gene

  • Glial Fibrillary Acidic Protein 2 3
  • Intermediate Filament Protein 2
  • ALXDRD 3

External Ids for GFAP Gene

Previous GeneCards Identifiers for GFAP Gene

  • GC17M042501
  • GC17M045160
  • GC17M042993
  • GC17M043458
  • GC17M040338
  • GC17M038748
  • GC17M042982

Summaries for GFAP Gene

Entrez Gene Summary for GFAP Gene

  • 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]

GeneCards Summary for GFAP Gene

GFAP (Glial Fibrillary Acidic Protein) is a Protein Coding gene. Diseases associated with GFAP include alexander disease and alexander disease type ii. Among its related pathways are PI-3K cascade and Signaling by GPCR. GO annotations related to this gene include structural constituent of cytoskeleton and kinase binding. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot for GFAP Gene

  • GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells

Gene Wiki entry for GFAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFAP Gene

Genomics for GFAP Gene

Regulatory Elements for GFAP Gene

Genomic Location for GFAP Gene

Start:
44,905,008 bp from pter
End:
44,916,937 bp from pter
Size:
11,930 bases
Orientation:
Minus strand

Genomic View for GFAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GFAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFAP Gene

Proteins for GFAP Gene

  • Protein details for GFAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14136-GFAP_HUMAN
    Recommended name:
    Glial fibrillary acidic protein
    Protein Accession:
    P14136
    Secondary Accessions:
    • B2RD44
    • D3DX59
    • E9PAX3
    • Q53H98
    • Q5D055
    • Q6ZQS3
    • Q7Z5J6
    • Q7Z5J7
    • Q96KS4
    • Q96P18
    • Q9UFD0

    Protein attributes for GFAP Gene

    Size:
    432 amino acids
    Molecular mass:
    49880 Da
    Quaternary structure:
    • Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).

    Alternative splice isoforms for GFAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFAP Gene

Proteomics data for GFAP Gene at MOPED

Post-translational modifications for GFAP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GFAP (GFAP)

No data available for DME Specific Peptides for GFAP Gene

Domains for GFAP Gene

Gene Families for GFAP Gene

HGNC:
  • IFF3 :Intermediate filaments type III

Protein Domains for GFAP Gene

Graphical View of Domain Structure for InterPro Entry

P14136

UniProtKB/Swiss-Prot:

GFAP_HUMAN :
  • P14136
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with GFAP: view

Function for GFAP Gene

Molecular function for GFAP Gene

GENATLAS Biochemistry: glial fibrillary acidic protein,49.8kDa,almost exclusively expressed in astrocytes,interacting with S100A1
UniProtKB/Swiss-Prot Function: GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells

Gene Ontology (GO) - Molecular Function for GFAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 16189514
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with GFAP: view
genes like me logo Genes that share phenotypes with GFAP: view

Animal Models for GFAP Gene

MGI Knock Outs for GFAP:

Animal Model Products

CRISPR Products

miRNA for GFAP Gene

miRTarBase miRNAs that target GFAP

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFAP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GFAP Gene

Localization for GFAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFAP Gene

Cytoplasm. Note=Associated with intermediate filaments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFAP Gene COMPARTMENTS Subcellular localization image for GFAP gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 3
extracellular 2
nucleus 2
peroxisome 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GFAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12355421
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0016020 membrane IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with GFAP: view

Pathways for GFAP Gene

genes like me logo Genes that share pathways with GFAP: view

Pathways by source for GFAP Gene

1 Qiagen pathway for GFAP Gene
1 Cell Signaling Technology pathway for GFAP Gene
2 BioSystems pathways for GFAP Gene
1 GeneGo (Thomson Reuters) pathway for GFAP Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for GFAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009611 response to wounding IEA --
GO:0010625 positive regulation of Schwann cell proliferation IEA --
GO:0010977 negative regulation of neuron projection development IEA --
GO:0014002 astrocyte development IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with GFAP: view

Compounds for GFAP Gene

(119) Novoseek inferred chemical compound relationships for GFAP Gene

Compound -log(P) Hits PubMed IDs
paraffin 54.4 16
bromodeoxyuridine 52.8 24
reticulin 50.8 6
2,3-cyclic nucleotide 50.2 3
glutamate 42.5 31
genes like me logo Genes that share compounds with GFAP: view

Transcripts for GFAP Gene

Unigene Clusters for GFAP Gene

Glial fibrillary acidic protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFAP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFAP Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - -
SP6: - - - - - - - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: -
SP9: -
SP10: -
SP11: -
SP12: -

ExUns: 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for GFAP Gene

GeneLoc Exon Structure for
GFAP
ECgene alternative splicing isoforms for
GFAP

Expression for GFAP Gene

mRNA expression in normal human tissues for GFAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GFAP Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (18.8), Brain - Substantia nigra (6.1), Brain - Hypothalamus (5.0), Brain - Hippocampus (4.3), and Brain - Amygdala (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFAP Gene

SOURCE GeneReport for Unigene cluster for GFAP Gene Hs.514227

mRNA Expression by UniProt/SwissProt for GFAP Gene

P14136-GFAP_HUMAN
Tissue specificity: Expressed in cells lacking fibronectin.
genes like me logo Genes that share expressions with GFAP: view

In Situ Assay Products

Orthologs for GFAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for GFAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFAP 35
  • 99.54 (n)
  • 100 (a)
GFAP 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GFAP 35
  • 92.13 (n)
  • 96.26 (a)
GFAP 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFAP 35
  • 89.71 (n)
  • 94.5 (a)
GFAP 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfap 35
  • 87.41 (n)
  • 91.61 (a)
Gfap 16
Gfap 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFAP 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gfap 35
  • 87.67 (n)
  • 92.09 (a)
chicken
(Gallus gallus)
Aves GFAP 35
  • 74.84 (n)
  • 71.32 (a)
GFAP 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFAP 36
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gfap 35
  • 68.77 (n)
  • 68.22 (a)
gfap 36
  • 60 (a)
OneToOne
Species with no ortholog for GFAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GFAP Gene

ENSEMBL:
Gene Tree for GFAP (if available)
TreeFam:
Gene Tree for GFAP (if available)

Paralogs for GFAP Gene

Paralogs for GFAP Gene

genes like me logo Genes that share paralogs with GFAP: view

Variants for GFAP Gene

Sequence variations from dbSNP and Humsavar for GFAP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7049 -- 44,905,727(-) CCACT(C/T)CTTCC utr-variant-3-prime
rs12222 -- 44,905,361(-) TACCA(C/T)TGGAT downstream-variant-500B
rs17027 -- 44,905,825(+) GTCCC(A/C/G/T)TCTCT utr-variant-3-prime
rs1042329 -- 44,906,346(-) ATGGC(A/G)CTAGG utr-variant-3-prime
rs1042408 -- 44,905,780(-) CTAAG(A/G)CCGAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GFAP Gene

Variant ID Type Subtype PubMed ID
nsv833457 CNV Loss 17160897
nsv527788 CNV Loss 19592680
nsv516758 CNV Loss 19592680
esv989371 CNV Deletion 20482838

Relevant External Links for GFAP Gene

HapMap Linkage Disequilibrium report
GFAP
Human Gene Mutation Database (HGMD)
GFAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFAP Gene

Disorders for GFAP Gene

(1) OMIM Diseases for GFAP Gene (137780)

UniProtKB/Swiss-Prot

GFAP_HUMAN
  • Alexander disease (ALEXD) [MIM:203450]: A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes. {ECO:0000269 PubMed:11138011, ECO:0000269 PubMed:11567214, ECO:0000269 PubMed:11595337, ECO:0000269 PubMed:12034785, ECO:0000269 PubMed:12034796, ECO:0000269 PubMed:12581808, ECO:0000269 PubMed:12944715, ECO:0000269 PubMed:12975300, ECO:0000269 PubMed:15030911, ECO:0000269 PubMed:15732097, ECO:0000269 PubMed:17043438, ECO:0000269 PubMed:17805552, ECO:0000269 PubMed:17894839, ECO:0000269 PubMed:17934883, ECO:0000269 PubMed:17960815, ECO:0000269 PubMed:18004641, ECO:0000269 PubMed:18079314, ECO:0000269 PubMed:19412928, ECO:0000269 PubMed:20359319, ECO:0000269 PubMed:21917775, ECO:0000269 PubMed:23364391, ECO:0000269 PubMed:23743246, ECO:0000269 PubMed:24742911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(98) Novoseek inferred disease relationships for GFAP Gene

Disease -log(P) Hits PubMed IDs
alexanders disease 92.7 112
gliosis 85.8 84
glioma 80.8 135
astrocytoma 80.5 90
astrocytosis 79.1 22

Relevant External Links for GFAP

GeneTests
GFAP
GeneReviews
GFAP
Genetic Association Database (GAD)
GFAP
Human Genome Epidemiology (HuGE) Navigator
GFAP
genes like me logo Genes that share disorders with GFAP: view

Publications for GFAP Gene

  1. Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes. (PMID: 1847665) Bongcam-Rudloff E. … Westermark B. (Cancer Res. 1991) 3 4 23
  2. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. (PMID: 2163003) Brenner M. … Freese E. (Brain Res. Mol. Brain Res. 1990) 3 4 23
  3. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID: 11138011) Brenner M. … Messing A. (Nat. Genet. 2001) 3 4 23
  4. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. (PMID: 11595337) Aoki Y. … Matsubara Y. (Neurosci. Lett. 2001) 3 4 23
  5. Infantile Alexander disease: spectrum of GFAP mutations and genotype- phenotype correlation. (PMID: 11567214) Rodriguez D. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2001) 3 4 23

Products for GFAP Gene

  • Addgene plasmids for GFAP

Sources for GFAP Gene

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