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GFAP Gene

protein-coding   GIFtS: 69
GCID: GC17M042982

Glial Fibrillary Acidic Protein

  See GFAP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glial Fibrillary Acidic Protein1 2
Intermediate Filament Protein1

External Ids:    HGNC: 42351   Entrez Gene: 26702   Ensembl: ENSG000001310957   OMIM: 1377805   UniProtKB: P141363   

Export aliases for GFAP gene to outside databases

Previous GC identifers: GC17M042501 GC17M045160 GC17M042993 GC17M043458 GC17M040338 GC17M038748


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type ii, and mixed glioma. GO annotations related to this gene include kinase binding and structural constituent of cytoskeleton. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136
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 Wiki entry for GFAP (Glial fibrillary acidic protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GFAP gene promoter:
         PPAR-gamma1   AP-1   ATF-2   STAT3   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGFAP promoter sequence
   Search Chromatin IP Primers for GFAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GFAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042982:  view genomic region     (about GC identifiers)

Start:
42,982,376 bp from pter      End:
42,994,305 bp from pter
Size:
11,930 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136 (See protein sequence)
Recommended Name: Glial fibrillary acidic protein  
Size: 432 amino acids; 49880 Da
Subunit: Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus)
Secondary accessions: B2RD44 D3DX59 E9PAX3 Q53H98 Q5D055 Q6ZQS3 Q7Z5J6 Q7Z5J7 Q96KS4 Q96P18
Q9UFD0
Alternative splicing: 3 isoforms:  P14136-1   P14136-2   P14136-3   (Variant in position: 426:T->A. Variant in position: 426:T->V)

Explore the universe of human proteins at neXtProt for GFAP: NX_P14136

Explore proteomics data for GFAP at MOPED

Post-translational modifications: 

  • Phosphorylated by PKN11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GFAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124491.1  NP_001229305.1  NP_002046.1  

    ENSEMBL proteins: 
     ENSP00000253408   ENSP00000466598   ENSP00000467530   ENSP00000467397   ENSP00000403962  
     ENSP00000468500   ENSP00000465320   ENSP00000465624   ENSP00000366189   ENSP00000465565  
     ENSP00000465629   ENSP00000465208   ENSP00000464795   ENSP00000466163   ENSP00000467106  
    Reactome Protein details: P14136

    GFAP Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant GFAP Protein
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for GFAP
    OriGene Protein Over-expression Lysate for GFAP
    OriGene MassSpec for GFAP
    OriGene Custom Protein Services for GFAP
    GenScript Custom Purified and Recombinant Proteins Services for GFAP
    Novus Biologicals GFAP Proteins
    Novus Biologicals GFAP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GFAP

     
    Search eBioscience for Proteins for GFAP 

    GFAP Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GFAP
    R&D Systems Antibodies for GFAP
    Cell Signaling Technology (CST) Antibodies for GFAP 
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    OriGene Custom Antibody Services for GFAP
    Novus Biologicals GFAP Antibodies
    Abcam antibodies for GFAP
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    ThermoFisher Antibody for GFAP
    LSBio Antibodies in human, mouse, rat for GFAP

    GFAP Assay Products:

    EMD Millipore Kits and Assays for the Analysis of GFAP
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    Browse R&D Systems for biochemical assays
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GFAP
    Cloud-Clone Corp. CLIAs for GFAP
    Search eBioscience for ELISAs for GFAP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF3: Intermediate filaments type III

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR027701 GFAP

    Graphical View of Domain Structure for InterPro Entry P14136

    ProtoNet protein and cluster: P14136

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature


    UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with GFAP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GFAP_HUMAN, P14136
    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

         Genatlas biochemistry entry for GFAP:
    glial fibrillary acidic protein,49.8kDa,almost exclusively expressed in astrocytes,interacting with S100A1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding ----
    GO:0019900kinase binding IEA--
         
    Find genes that share ontologies with GFAP           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GFAP:
     Increased circadian period len 

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Gfap):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     normal  vision/eye 

    Find genes that share phenotypes with GFAP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GFAP: Gfaptm1Pkny Gfaptm1Mes Gfaptm1Ldtk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GFAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GFAP

    miRNA
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    miRTarBase miRNAs that target GFAP:
    hsa-mir-335-5p (MIRT016984)

    Block miRNA regulation of human, mouse, rat GFAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GFAP (see all 30):
    hsa-miR-3128 hsa-miR-142-3p hsa-miR-642a hsa-miR-520e hsa-miR-302d hsa-miR-15a hsa-miR-302e hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidGFAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GFAP
    Predesigned siRNA for gene silencing in human, mouse, rat GFAP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GFAP

    Clone
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    OriGene clones in human, mouse for GFAP (see all 12)
    OriGene ORF clones in mouse, rat for GFAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GFAP (NM_002055)
    Sino Biological Human cDNA Clone for GFAP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFAP
    Addgene plasmids for GFAP 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GFAP 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFAP

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10253) for GFAP 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GFAP_HUMAN, P14136: Cytoplasm. Note=Associated with intermediate filaments
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    mitochondrion3
    extracellular2
    nucleus2
    peroxisome2
    plasma membrane2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12355421
    GO:0005829cytosol TAS--
    GO:0005882intermediate filament IEA--
    GO:0016020membrane IEA--
    GO:0042995cell projection ----

    Find genes that share ontologies with GFAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GFAP About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1PI-3K cascade
    Signaling by ERBB40.66
    2ERK Signaling
    Rho Family GTPases0.61
    3Signaling by GPCR
    Signal Transduction0.58
    4Cytoplasmic microtubules
    Cytoskeleton remodeling Neurofilaments0.32
    5Spinal Cord Injury
    Spinal Cord Injury


    Find genes that share SuperPaths with GFAP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GFAP
        Rho Family GTPases

    1 Cell Signaling Technology (CST) Pathway for GFAP
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for GFAP
        Cytoskeleton remodeling Neurofilaments

    2 BioSystems Pathways for GFAP
        Spinal Cord Injury
    Neural Crest Differentiation


    1 Reactome Pathway for GFAP
        Nuclear signaling by ERBB4


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GFAP: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Multiple Sclerosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GFAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GFAP (P141362, 3 ENSP000002534084) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDLIM1O001512, 3, ENSP000003603054MINT-66480 I2D: score=5 STRING: ENSP00000360305
    PDLIM7Q9NR122, 3, ENSP000003480994MINT-66672 I2D: score=5 STRING: ENSP00000348099
    SH3YL1Q96HL82, 3, ENSP000004041434MINT-67449 I2D: score=5 STRING: ENSP00000404143
    VIMP086702, 3, ENSP000002242374MINT-66894 I2D: score=5 STRING: ENSP00000224237
    TUBGCP4Q9UGJ12, 3, ENSP000002603834MINT-68159 I2D: score=4 STRING: ENSP00000260383
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009611response to wounding IEA--
    GO:0010625positive regulation of Schwann cell proliferation IEA--
    GO:0010977negative regulation of neuron projection development IEA--
    GO:0014002astrocyte development IEA--
    GO:0030198extracellular matrix organization IEA--

    Find genes that share ontologies with GFAP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GFAP

    Selected Novoseek inferred chemical compound relationships for GFAP gene (see all 119)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraffin 54.4 16 7843005 (1), 15049161 (1), 20052522 (1), 19130736 (1) (see all 16)
    bromodeoxyuridine 52.8 38 11919512 (2), 14761318 (2), 15347454 (2), 8025260 (1) (see all 21)
    reticulin 50.8 6 1653908 (1), 8367917 (1), 7595757 (1), 16570197 (1) (see all 6)
    2',3'-cyclic nucleotide 50.2 3 17998570 (1), 18000339 (1), 19019968 (1)
    glutamate 42.5 33 19056357 (2), 17129705 (2), 8813295 (1), 9386775 (1) (see all 29)
    glutamine 41.4 41 9602083 (3), 1977892 (3), 11239243 (3), 10756062 (2) (see all 31)
    retinoic acid 39.7 36 12237846 (3), 18234667 (2), 15530878 (1), 17999602 (1) (see all 15)
    hematoxylin 39.2 13 15049161 (1), 1696006 (1), 9757619 (1), 11532160 (1) (see all 13)
    trimethyltin 38.1 11 15986416 (2), 11746364 (2), 18001836 (1)
    dbc-amp 37.8 18 1665525 (3), 1654300 (3), 7692077 (2), 12531523 (1) (see all 7)



    Find genes that share compounds with GFAP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GFAP gene (3 alternative transcripts): 
    NM_001131019.2  NM_001242376.1  NM_002055.4  

    Unigene Cluster for GFAP:

    Glial fibrillary acidic protein
    Hs.514227  [show with all ESTs]
    Unigene Representative Sequence: NM_002055
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000592065 ENST00000253408(uc002ihq.3) ENST00000589701 ENST00000592706
    ENST00000588735 ENST00000585543 ENST00000591880 ENST00000586125 ENST00000588640
    ENST00000435360(uc002ihr.3 uc021tyh.1 uc010wjg.2) ENST00000586793
    ENST00000592320 ENST00000587997 ENST00000376990 ENST00000591719 ENST00000590922
    ENST00000588957 ENST00000588316
    miRNA
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    Block miRNA regulation of human, mouse, rat GFAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GFAP (see all 30):
    hsa-miR-3128 hsa-miR-142-3p hsa-miR-642a hsa-miR-520e hsa-miR-302d hsa-miR-15a hsa-miR-302e hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidGFAP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GFAP
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GFAP (NM_002055)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFAP
    Addgene plasmids for GFAP 
    Primer
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    OriGene qPCR primer pairs and template standards for GFAP
    OriGene qSTAR qPCR primer pairs in human, mouse for GFAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GFAP
      QuantiTect SYBR Green Assays in human, mouse, rat GFAP
      QuantiFast Probe-based Assays in human, mouse, rat GFAP
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10253) for GFAP 

    Additional mRNA sequence: 

    AF419299.1 AJ306447.1 AK128790.1 AK315398.1 BC012228.1 BC013596.1 BC041765.1 BC062609.1 
    BC127871.1 BC127920.1 J04569.1 M26638.1 S40719.1 U92979.1 

    Selected DOTS entries (see all 72):

    DT.91640961  DT.95188082  DT.95329296  DT.75118923  DT.121000704  DT.91649564  DT.100802522  DT.121000953 
    DT.95188097  DT.97816857  DT.121000693  DT.87017518  DT.97816690  DT.91865737  DT.92386223  DT.121000806 
    DT.121000794  DT.100822464  DT.100822449  DT.121000667  DT.95188087  DT.121000890  DT.121000733  DT.121000860 

    Selected AceView cDNA sequences (see all 1292):

    BP349486 AI992268 Z41871 AA322945 AA322498 AI094888 BP350478 N64666 
    BP359895 BI038195 BP362729 BP349155 BP350078 BP349869 BP349118 AA322212 
    CB152674 CD613946 BP348492 BP348818 BP348532 BM706992 BQ878701 NM_002055 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GFAP (see all 12)    About this scheme

    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:                                                                                                                                -     -     -               

    ExUns: 14a · 14b · 14c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for GFAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GFAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTTGTCCC
    GFAP Expression
    About this image


    GFAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 10 entries
             Non-myelinating Schwann Cells Peripheral Nerve Domain
             Schwann cells
             Schwann-like cells
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebellum
             Olfactory ensheathing cells
             Astrocytes-like cells
     
     Schwann Cells (Nervous System)    fully expand to see all 7 entries
             Schwann cells
             Schwann-like cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Spinal Cord (Nervous System)    fully expand to see all 8 entries
             Neural stem cells
             Motor neuron-like precursor cells
    GFAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514227

    UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136
    Tissue specificity: Expressed in cells lacking fibronectin

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GFAP: 
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              Multiple Sclerosis in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GFAP gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfap1 , 5 glial fibrillary acidic protein1, 5 87.41(n)1
    91.61(a)1
      11 (66.48 cM)5
    145801  NM_010277.31  NP_034407.21 
     1028873365 
    chicken
    (Gallus gallus)
    Aves GFAP1 glial fibrillary acidic protein 74.84(n)
    71.32(a)
      419969  XM_418091.4  XP_418091.2 
    lizard
    (Anolis carolinensis)
    Reptilia GFAP6
    glial fibrillary acidic protein
    62(a)
    1 ↔ 1
    6(64367156-64393446)
    zebrafish
    (Danio rerio)
    Actinopterygii gfap1 glial fibrillary acidic protein 68.77(n)
    68.22(a)
      30646  NM_131373.2  NP_571448.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GFAP gene
    LMNB12  VIM2  INA2  LMNA2  PRPH2  NEFM2  DES2  LMNB22  
    NEFH2  
    Selected SIMAP similar genes for GFAP using alignment to 12 protein entries:     GFAP_HUMAN (see all proteins) (see all similar genes):
    KRTHB6    VIM    DKFZp761K0922    DES    INA    tmp_locus_29
    PRPH    NEFL    NEFM    KRT4    GUCA1B    KRT1
    KRT2    KRT17    KRT14    KRT33A    KRT72    KRT81

    Find genes that share paralogs with GFAP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GFAP (see all 449)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs595659501,2,,4
    CAlexander disease (ALEXD)4 pathogenic143781302(-) GATCCA/C/G/
            
    CACGC
    12 H P R L mis10--------
    rs580641221,2,,4
    CAlexander disease (ALEXD)4 pathogenic143781303(-) AGATCC/TGCACG 6 R C mis10--------
    rs566790841,2,,4
    C,FAlexander disease (ALEXD)4 untested143781351(-) ATGTGG/CAGCTT 6 /Q /E mis12Minor allele frequency- C:0.00NA EU 5757
    rs616229351,2,,4
    CAlexander disease (ALEXD)4 pathogenic143783194(-) AGGTTA/C/TGCTTC 9 S R C mis10--------
    rs592857271,2,,4
    CAlexander disease (ALEXD)4 pathogenic143783220(-) TGACCA/C/G/
            
    CTTTG
    12 H P R L mis10--------
    rs597932931,2,,4
    CAlexander disease (ALEXD)4 pathogenic143783221(-) ATGACA/C/G/
            
    GCTTT
    12 S R G C mis10--------
    rs587322441,2,,4
    CAlexander disease (ALEXD)4 pathogenic143783227(-) AGCTCA/TATGAC 6 N Y mis10--------
    rs571207611,2,,4
    CAlexander disease (ALEXD)4 pathogenic143783230(-) TGGAGC/G/TTCAAT 9 L V F mis10--------
    VAR_0174764
    Alexander disease (ALEXD)4--see VAR_0174762 R W mis40--------
    rs289327681,2,4
    Alexander disease (ALEXD)4--see VAR_0174752 mis40--------

    HapMap Linkage Disequilibrium report for GFAP (42982376 - 42994305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GFAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989371CNV Deletion20482838
    nsv516758CNV Loss19592680
    nsv833457CNV Loss17160897
    nsv527788CNV Loss19592680

    Human Gene Mutation Database (HGMD): GFAP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GFAP
    DNA2.0 Custom Variant and Variant Library Synthesis for GFAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137780   
    OMIM disorders: 203450  
    UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136
  • 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for GFAP (see all 75):    
    About MalaCards
    alexander disease type ii    mixed glioma    papillary ependymoma    gliomatosis cerebri
    alexander disease    epithelial-myoepithelial carcinoma    astroblastoma    oligodendroglioma
    alexander disease type i    ring chromosome 7    ependymoblastoma    oligoastrocytoma
    gemistocytic astrocytoma    pituicytoma    psammomatous meningioma    melanotic neuroectodermal tumor
    tanycytic ependymoma    subcortical arteriosclerotic encephalopathy    binswanger's disease    ganglioglioma

    17 diseases from the University of Copenhagen DISEASES database for GFAP:
    Malignant glioma     Brain disease     Neurodegenerative disease     Brain cancer
    Vascular disease     Toxic encephalopathy     Ganglioglioma     Cognitive disorder
    Medulloblastoma     Myoepithelioma     Subependymal giant cell astrocytoma     Tanycytic ependymoma
    Meningioma     Neurilemmoma     Choroid plexus papilloma     Retinal detachment
    Papillary ependymoma

    Find genes that share disorders with GFAP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GFAP gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alexanders disease 92.7 131 11567214 (4), 12175861 (4), 17299771 (3), 11138011 (3) (see all 70)
    gliosis 85.8 95 7563232 (2), 7770619 (2), 8738264 (2), 19417729 (2) (see all 77)
    glioma 80.8 159 17986096 (4), 19194275 (4), 15498217 (3), 8456947 (3) (see all 98)
    astrocytoma 80.5 115 8339269 (5), 7962062 (3), 9765058 (3), 2319288 (2) (see all 69)
    astrocytosis 79.1 26 14507340 (2), 7969795 (1), 8834543 (1), 17713114 (1) (see all 21)
    glioblastoma 77.5 52 1653908 (2), 10640425 (2), 7541474 (2), 11263860 (2) (see all 35)
    oligodendroglioma 76.7 32 17319279 (3), 18673515 (3), 8416742 (2), 17146289 (2) (see all 22)
    ependymoma 74.7 19 7754745 (3), 1695040 (2), 10937045 (2), 18360284 (2) (see all 11)
    neurocytoma central 73.9 3 1471723 (1), 10393370 (1), 17257132 (1)
    astroblastoma 72.8 2 2187587 (1), 9044656 (1)

    GeneTests: GFAP
    GeneReviews: GFAP
    Genetic Association Database (GAD): GFAP
    Human Genome Epidemiology (HuGE) Navigator: GFAP (6 documents)

    Export disorders for GFAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GFAP gene, integrated from 10 sources (see all 1612):
    (articles sorted by number of sources associating them with GFAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17. (PubMed id 9693047)1, 2, 3 Isaacs A.... Hutton M. (Genomics 1998)
    2. Infantile Alexander disease: spectrum of GFAP mutations and genotype- phenotype correlation. (PubMed id 11567214)1, 2, 9 Rodriguez D.... Boespflug-Tanguy O. (Am. J. Hum. Genet. 2001)
    3. Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes. (PubMed id 1847665)1, 2, 9 Bongcam-Rudloff E.... Westermark B. (Cancer Res. 1991)
    4. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. (PubMed id 2163003)1, 2, 9 Brenner M.... Freese E. (Brain Res. Mol. Brain Res. 1990)
    5. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PubMed id 11138011)1, 2, 9 Brenner M.... Messing A. (Nat. Genet. 2001)
    6. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. (PubMed id 12975300)1, 2, 9 Stumpf E.... Cossette P. (Arch. Neurol. 2003)
    7. Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase. (PubMed id 12686604)1, 2, 9 Kawajiri A....Inagaki M. (Mol. Biol. Cell 2003)
    8. A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? (PubMed id 12944715)1, 2, 9 Brockmann K.... Hanefeld F. (Eur. Neurol. 2003)
    9. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. (PubMed id 11595337)1, 2, 9 Aoki Y.... Matsubara Y. (Neurosci. Lett. 2001)
    10. A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins. (PubMed id 12058025)1, 2, 9 Nielsen A.L....Jorgensen A.L. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2670 HGNC: 4235 AceView: GFAP Ensembl:ENSG00000131095 euGenes: HUgn2670
    ECgene: GFAP H-InvDB: GFAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GFAP Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GFAP[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Glial_fibrillary_acidic_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GFAP gene:
    Search GeneIP for patents involving GFAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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