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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFAP Gene

protein-coding   GIFtS: 69
GCID: GC17M042982

Glial Fibrillary Acidic Protein

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 oligodendroglioma, and among its related super-pathways are Cytoskeleton remodeling Neurofilaments and PIP3 activates AKT signaling. GO annotations related to this gene include integrin binding and kinase binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GFAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm. Note=Associated with intermediate filaments
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:

  • UniProtKB: Phosphorylated by PKN1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14136

  • GFAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GFAP Protein Expression
    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
    Human Recombinant Protein Products for GFAP: 
    EMD Millipore Purified and/or Recombinant GFAP Protein
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    Novus Biologicals GFAP Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GFAP 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

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

    GFAP for ontologies           About GeneDecksing



    GFAP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for GFAP 

    Assay Products for GFAP: 
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    Cloud-Clone Corp. ELISAs for GFAP 
    Cloud-Clone Corp. CLIAs for GFAP


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

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F

    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


    GFAP for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    GFAP for ontologies           About GeneDecksing


    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 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     normal  vision/eye 

    GFAP for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GFAP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    8/30 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of GFAP 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFAP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GFAP About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    2PIP3 activates AKT signaling
    Signaling by ERBB40.67
    3Rho Family GTPases
    Rho Family GTPases0.61
    4Signaling by GPCR
    Signal Transduction0.55
    5Prolactin receptor signaling
    Nuclear signaling by ERBB40.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GFAP
        Cytoskeleton remodeling Neurofilaments

    1 Downloadable PowerPoint Slide of QIAGEN 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


    3        Reactome Pathways for GFAP
        Signal Transduction
    Signaling by ERBB4
    Nuclear signaling by ERBB4



    GFAP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GFAP

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

    5/118 Interacting proteins for GFAP (P141362, 3 ENSP000002534084) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    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): 5/12 biological process terms (GO ID links to tree view) (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--

    GFAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFAP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GFAP

    10/119 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)

    Search CenterWatch for drugs/clinical trials and news about GFAP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/23 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/30 QIAGEN miScript miRNA 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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    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 

    24/72 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 

    24/1292 AceView cDNA sequences (see all 1292):

    BP349118 BF339632 BF934267 BP348990 BP362496 BQ337928 BF339776 AW498774 
    BP362311 BP360635 BF927728 BP360557 BP348492 BI816902 BI038508 BP359895 
    BX477756 AI627424 AI085549 AI094888 BP350126 AK124465 AL039181 BP346870 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFAP expression in normal human tissues (normalized intensities)      GFAP embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 42 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Olfactory ensheathing cells
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Human Astrocytes   
             Globus Pallidus   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 6 entries
             Non-myelinating Schwann Cells Peripheral Nerve Domain
             Schwann cells
             Schwann-like cells ( Derivation of neural crest cells and their progeny (MS-5 feeder...
             spinal/ganglion/dorsal root ganglion   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Neural stem cells
             Dorsal Horn   
     
     Neuron (Nervous System)    fully expand to see all 3 entries
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Human Neuron (HN)   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Postnatal Endothelial Cells Blood Brain Barrier

    See GFAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFAP

    SOURCE GeneReport for Unigene cluster: Hs.514227

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GFAP gene from 4/9 species (see all 9)    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_418091.3  XP_418091.2 
    lizard
    (Anolis carolinensis)
    Reptilia GFAP6
    Uncharacterized protein
    68(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)
    About This Section
    Paralogs for GFAP gene
    LMNB12  VIM2  INA2  LMNA2  PRPH2  NEFM2  DES2  LMNB22  
    NEFH2  
    18/57 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

    GFAP for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/449 SNPs in GFAP are shown (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
    ----------
    VAR_0174764
    Alexander disease (ALEXD)4--see VAR_0174762 R W mis40--------
    VAR_0174754
    Alexander disease (ALEXD)4--see VAR_0174752 E D mis40--------
    VAR_0174704
    Alexander disease (ALEXD)4--see VAR_0174702 R S mis40--------
    VAR_0174774
    Alexander disease (ALEXD)4--see VAR_0174772 D E mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/207 diseases for GFAP (see all 207):    About MalaCards
    alexander disease    oligodendroglioma    ependymoma    gliomatosis cerebri
    mixed glioma    epithelial-myoepithelial carcinoma    ring chromosome 7    papillary ependymoma
    astroblastoma    tanycytic ependymoma    astrocytoma    gliosarcoma
    giant cell glioblastoma    chordoid meningioma    melanotic neuroectodermal tumor    ganglioglioma
    oligoastrocytoma    extraventricular neurocytoma    pituicytoma    papillary glioneuronal tumor

    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

    GFAP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/98 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)
    About This Section

    PubMed articles for GFAP gene, integrated from 9 sources (see all 1601):
    (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. (1998)
    2. Infantile Alexander disease: spectrum of GFAP mutations and genotype- phenotype correlation. (PubMed id 11567214)1, 2, 9 Rodriguez D.... Boespflug-Tanguy O. (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. (1991)
    4. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. (PubMed id 2163003)1, 2, 9 Brenner M.... Freese E. (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. (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. (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. (2003)
    8. A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? (PubMed id 12944715)1, 2, 9 Brockmann K.... Hanefeld F. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2670 HGNC: 4235 AceView: GFAP Ensembl:ENSG00000131095 euGenes: HUgn2670
    ECgene: GFAP H-InvDB: GFAP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFAP Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GFAP
    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.)
    About This Section
    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



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    About This Section

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