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GFAP (glial fibrillary acidic protein)

Identity

Other namesALXDRD
HGNC (Hugo) GFAP
LocusID (NCBI) 2670
Atlas_Id 50981
Location 17q21.31
Location_base_pair Starts at 42987035 and ends at 42992920 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BBS1 (11q13.2) / GFAP (17q21.31)BTBD9 (6p21.2) / GFAP (17q21.31)DESI2 (1q44) / GFAP (17q21.31)
GFAP (17q21.31) / CPVL (7p14.3)GFAP (17q21.31) / GFAP (17q21.31)RASA3 (13q34) / GFAP (17q21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GFAP   4235
Cards
Entrez_Gene (NCBI)GFAP  2670  glial fibrillary acidic protein
GeneCards (Weizmann)GFAP
Ensembl hg19 (Hinxton)ENSG00000131095 [Gene_View]  chr17:42987035-42992920 [Contig_View]  GFAP [Vega]
Ensembl hg38 (Hinxton)ENSG00000131095 [Gene_View]  chr17:42987035-42992920 [Contig_View]  GFAP [Vega]
ICGC DataPortalENSG00000131095
TCGA cBioPortalGFAP
AceView (NCBI)GFAP
Genatlas (Paris)GFAP
WikiGenes2670
SOURCE (Princeton)GFAP
Genomic and cartography
GoldenPath hg19 (UCSC)GFAP  -     chr17:42987035-42992920 -  17q21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GFAP  -     17q21.31   [Description]    (hg38-Dec_2013)
EnsemblGFAP - 17q21.31 [CytoView hg19]  GFAP - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIGFAP [Mapview hg19]  GFAP [Mapview hg38]
OMIM137780   203450   
Gene and transcription
Genbank (Entrez)AF419299 AJ306447 AK098380 AK098758 AK124465
RefSeq transcript (Entrez)NM_001131019 NM_001242376 NM_002055
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008401 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)GFAP
Cluster EST : UnigeneHs.514227 [ NCBI ]
CGAP (NCI)Hs.514227
Alternative Splicing : Fast-db (Paris)GSHG0013472
Alternative Splicing GalleryENSG00000131095
Gene ExpressionGFAP [ NCBI-GEO ]   GFAP [ EBI - ARRAY_EXPRESS ]   GFAP [ SEEK ]   GFAP [ MEM ]
Gene Expression Viewer (FireBrowse)GFAP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)2670
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14136 (Uniprot)
NextProtP14136  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14136
Splice isoforms : SwissVarP14136 (Swissvar)
PhosPhoSitePlusP14136
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)GFAP    IF    Intermed_filament_DNA-bd    Intermediate_filament_CS   
Domain families : Pfam (Sanger)Filament (PF00038)    Filament_head (PF04732)   
Domain families : Pfam (NCBI)pfam00038    pfam04732   
DMDM Disease mutations2670
Blocks (Seattle)GFAP
SuperfamilyP14136
Human Protein AtlasENSG00000131095
Peptide AtlasP14136
HPRD00675
IPIIPI00025363   IPI00383815   IPI00443478   IPI00909238   IPI01011386   IPI01009054   IPI00982111   
Protein Interaction databases
DIP (DOE-UCLA)P14136
IntAct (EBI)P14136
FunCoupENSG00000131095
BioGRIDGFAP
STRING (EMBL)GFAP
ZODIACGFAP
Ontologies - Pathways
QuickGOP14136
Ontology : AmiGOglycoprotein binding  integrin binding  structural constituent of cytoskeleton  protein binding  cytoplasm  lysosome  cytosol  intermediate filament  response to wounding  positive regulation of Schwann cell proliferation  negative regulation of neuron projection development  astrocyte development  membrane  kinase binding  extracellular matrix organization  neuron projection regeneration  myelin sheath  regulation of protein complex assembly  cell body  intermediate filament organization  intermediate filament cytoskeleton  regulation of neurotransmitter uptake  Bergmann glial cell differentiation  long-term synaptic potentiation  astrocyte end-foot  regulation of chaperone-mediated autophagy  regulation of chaperone-mediated autophagy  
Ontology : EGO-EBIglycoprotein binding  integrin binding  structural constituent of cytoskeleton  protein binding  cytoplasm  lysosome  cytosol  intermediate filament  response to wounding  positive regulation of Schwann cell proliferation  negative regulation of neuron projection development  astrocyte development  membrane  kinase binding  extracellular matrix organization  neuron projection regeneration  myelin sheath  regulation of protein complex assembly  cell body  intermediate filament organization  intermediate filament cytoskeleton  regulation of neurotransmitter uptake  Bergmann glial cell differentiation  long-term synaptic potentiation  astrocyte end-foot  regulation of chaperone-mediated autophagy  regulation of chaperone-mediated autophagy  
Pathways : BIOCARTAPrion Pathway [Genes]   
NDEx Network
Atlas of Cancer Signalling NetworkGFAP
Wikipedia pathwaysGFAP
Orthology - Evolution
OrthoDB2670
GeneTree (enSembl)ENSG00000131095
Phylogenetic Trees/Animal Genes : TreeFamGFAP
Homologs : HomoloGeneGFAP
Homology/Alignments : Family Browser (UCSC)GFAP
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGFAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GFAP
dbVarGFAP
ClinVarGFAP
1000_GenomesGFAP 
Exome Variant ServerGFAP
ExAC (Exome Aggregation Consortium)GFAP (select the gene name)
SNP (GeneSNP Utah)GFAP
SNP : HGBaseGFAP
Genetic variants : HAPMAPGFAP
Genomic Variants (DGV)GFAP [DGVbeta]
Mutations
ICGC Data PortalGFAP 
TCGA Data PortalGFAP 
Broad Tumor PortalGFAP
OASIS PortalGFAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGFAP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GFAP
DgiDB (Drug Gene Interaction Database)GFAP
DoCM (Curated mutations)GFAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GFAP (select a term)
intoGenGFAP
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:42987035-42992920
CONAN: Copy Number AnalysisGFAP 
Mutations and Diseases : HGMDGFAP
OMIM137780    203450   
MedgenGFAP
Genetic Testing Registry GFAP
NextProtP14136 [Medical]
TSGene2670
GENETestsGFAP
Huge Navigator GFAP [HugePedia]  GFAP [HugeCancerGEM]
snp3D : Map Gene to Disease2670
BioCentury BCIQGFAP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2670
Chemical/Pharm GKB GenePA28647
Clinical trialGFAP
Miscellaneous
canSAR (ICR)GFAP (select the gene name)
Probes
Litterature
PubMed204 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGFAP
GoPubMedGFAP
iHOPGFAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:46:02 CEST 2016

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