Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GFAP Gene

Aliases for GFAP Gene

  • Glial Fibrillary Acidic Protein 2 3 5
  • 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 Myoepithelioma. Among its related pathways are Neural Crest Differentiation and Jak-STAT signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is DES.

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

Additional gene information for GFAP Gene

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

Genomics for GFAP Gene

GeneHancer (GH) Regulatory Elements for GFAP Gene

Promoters and enhancers for GFAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I044916 Enhancer 0.9 Ensembl ENCODE 550.8 +0.2 171 1.7 TEAD3 GLIS2 POLR2A FOSL2 NR2F6 NFIA HLF CEBPB PPARG SP1 GFAP GJC1 FAM187A EFTUD2 GC17M044910
GH17I044915 Promoter 0.5 EPDnew 550.8 +1.4 1417 0.1 GFAP GC17M044910
GH17I045059 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -144.8 -144809 4.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DCAKD PIR53442 NMT1 ENSG00000262372 ASB16-AS1 TMUB2 UBTF C17orf53 MAP3K14-AS1 LSM12
GH17I045089 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17 -175.3 -175269 4.6 FOXA2 ZSCAN4 ARID4B SIN3A RAD21 RARA YY1 ZNF121 FOS ZNF362 DCAKD PLCD3 GFAP NMT1 ACBD4 HEXIM1 HIGD1B ADAM11 ENSG00000200888 MIR6784
GH17I045020 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.7 -104.5 -104487 2.5 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF207 ZNF143 ATF7 PAF1 DCAKD NMT1 C1QL1 GFAP FAM187A EFTUD2 CCDC103 KIF18B HEXIM2 ENSG00000224505
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GFAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GFAP gene promoter:

Genomic Locations for GFAP Gene

Genomic Locations for GFAP Gene
chr17:44,903,161-44,916,937
(GRCh38/hg38)
Size:
13,777 bases
Orientation:
Minus strand
chr17:42,982,376-42,994,305
(GRCh37/hg19)

Genomic View for GFAP Gene

Genes around GFAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for GFAP Gene

Gene Families for GFAP Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P14136

UniProtKB/Swiss-Prot:

GFAP_HUMAN :
  • Belongs to the intermediate filament family.
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.

Phenotypes From GWAS Catalog for GFAP Gene

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 IEA --
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

Human Phenotype Ontology for GFAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFAP Gene

MGI Knock Outs for GFAP:

Animal Model Products

miRNA for GFAP Gene

miRTarBase miRNAs that target GFAP

Clone Products

  • Addgene plasmids for GFAP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFAP gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 4
lysosome 3
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA 12355421
GO:0005764 colocalizes_with lysosome ISS --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with GFAP: view

Pathways & Interactions for GFAP Gene

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

Pathways by source for GFAP Gene

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

SIGNOR curated interactions for GFAP Gene

Is inactivated by:

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

Drugs & Compounds for GFAP Gene

(64) Drugs for GFAP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(55) Additional Compounds for GFAP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for GFAP

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x18.8), Brain - Substantia nigra (x6.1), Brain - Hypothalamus (x5.0), Brain - Hippocampus (x4.3), and Brain - Amygdala (x4.0).

Protein differential expression in normal tissues from HIPED for GFAP Gene

This gene is overexpressed in Spinal cord (38.5) and Brain (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GFAP Gene



NURSA nuclear receptor signaling pathways regulating expression of GFAP Gene:

GFAP

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.

Evidence on tissue expression from TISSUES for GFAP Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Blood(4.5)
  • Eye(3.7)
  • Heart(2.5)
  • Liver(2.1)
  • Lung(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GFAP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with GFAP: view

No data available for Protein tissue co-expression partners for GFAP Gene

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 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia GFAP 33 34
  • 92.13 (n)
dog
(Canis familiaris)
Mammalia GFAP 33 34
  • 89.71 (n)
rat
(Rattus norvegicus)
Mammalia Gfap 33
  • 87.67 (n)
mouse
(Mus musculus)
Mammalia Gfap 33 16 34
  • 87.41 (n)
oppossum
(Monodelphis domestica)
Mammalia GFAP 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GFAP 33 34
  • 74.84 (n)
lizard
(Anolis carolinensis)
Reptilia GFAP 34
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gfap 33 34
  • 68.77 (n)
Species where no ortholog for GFAP was found in the sources mined by GeneCards:
  • 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

Variants for GFAP Gene

Sequence variations from dbSNP and Humsavar for GFAP Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1042329 likely-benign, benign, Primary ciliary dyskinesia, Alexander's disease 44,906,346(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057518685 likely-pathogenic, Alexander's disease 44,915,272(-) T/C coding_sequence_variant, missense_variant
rs1057518828 likely-pathogenic, Scoliosis 44,911,317(-) T/G coding_sequence_variant, missense_variant
rs111477608 likely-benign, Alexander's disease 44,906,062(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112611995 pathogenic, Alexander's disease 44,913,433(-) G/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv989371 CNV deletion 20482838
nsv1146669 OTHER inversion 26484159
nsv516758 CNV loss 19592680
nsv527788 CNV loss 19592680
nsv833457 CNV loss 17160897

Variation tolerance for GFAP Gene

Residual Variation Intolerance Score: 56.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GFAP Gene

Human Gene Mutation Database (HGMD)
GFAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFAP

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

Disorders for GFAP Gene

MalaCards: The human disease database

(163) MalaCards diseases for GFAP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alexander disease
  • alxdrd
myoepithelioma
  • benign myoepithelioma
oligodendroglioma
  • oligodendroglial neoplasm
astroblastoma
  • cerebral astroblastoma
myxopapillary ependymoma
  • ependymoma myxopapillary
- elite association - COSMIC cancer census association via MalaCards
Search GFAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GFAP_HUMAN
  • Alexander disease (ALXDRD) [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.

Additional Disease Information for GFAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GFAP: view

No data available for Genatlas for GFAP Gene

Publications for GFAP Gene

  1. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. (PMID: 12581808) Shiroma N … Tsujino S (Brain & development 2003) 3 4 22 58
  2. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. (PMID: 11567214) Rodriguez D … Boespflug-Tanguy O (American journal of human genetics 2001) 3 4 22 58
  3. Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17. (PMID: 9693047) Isaacs A … Hutton M (Genomics 1998) 2 3 4 58
  4. 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 research 1991) 3 4 22 58
  5. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. (PMID: 2163003) Brenner M … Freese E (Brain research. Molecular brain research 1990) 3 4 22 58

Products for GFAP Gene

Sources for GFAP Gene

Content
Loading form....