Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2670
Gene name Gene Name - the full gene name approved by the HGNC.
Glial fibrillary acidic protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GFAP
Synonyms (NCBI Gene) Gene synonyms aliases
ALXDRD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALXDRD
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez 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 astrocyt
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28932769 A>G Pathogenic, not-provided Missense variant, coding sequence variant
rs56679084 C>G Uncertain-significance, pathogenic, not-provided Missense variant, coding sequence variant
rs57120761 G>A,C Pathogenic, not-provided Missense variant, coding sequence variant
rs57590980 T>C Pathogenic, not-provided Missense variant, coding sequence variant
rs57661783 C>A,T Pathogenic, not-provided Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016984 hsa-miR-335-5p Microarray 18185580
MIRT733242 hsa-miR-146a-3p Immunocytochemistry (ICC), Mass spectrometry, qRT-PCR, Western blotting 33968923
MIRT733607 hsa-miR-140-5p Immunofluorescence, qRT-PCR, Western blotting 33987369
MIRT1016542 hsa-miR-1197 CLIP-seq
MIRT1016543 hsa-miR-1207-5p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
EP300 Activation 20414733
NFIC Unknown 19540848
NFKB1 Activation 16516312
NFKB1 Unknown 20471977
RELA Activation 16516312
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 2740350
GO:0005515 Function Protein binding IPI 16189514, 17500595, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 12355421
GO:0005764 Component Lysosome ISS
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137780 4235 ENSG00000131095
Protein
UniProt ID P14136
Protein name Glial fibrillary acidic protein (GFAP)
Protein 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.
PDB 6A9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04732 Filament_head 1 67 Intermediate filament head (DNA binding) region Family
PF00038 Filament 68 376 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in cells lacking fibronectin. {ECO:0000269|PubMed:1847665}.
Sequence
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  JAK-STAT signaling pathway   Nuclear signaling by ERBB4
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alexander disease Alexander Disease, Alexander disease type II, Alexander disease type I rs58064122, rs59565950, rs121909717, rs59285727, rs59793293, rs61622935, rs57120761, rs58732244, rs121909718, rs121909719, rs28932769, rs121909720, rs267607515, rs267607511, rs62636501
View all (24 more)
12581808, 16217707, 18584981, 18054694, 20849398, 15390001, 18217876, 17934883, 12447932, 23743246, 20359319, 11867077, 12638020, 24742911, 19412928
View all (80 more)
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
11723166, 11796754
Developmental regression Developmental regression rs1224421127
Epilepsy Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
21177194
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder 11754076, 19000745, 25098258, 18585900 ClinVar
Alexander Disease Alexander disease type II GenCC
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 37002988, 37268240, 39913635
Adenocarcinoma Associate 35077636
Adenoma Associate 33001343, 36307634
Adenoma Pleomorphic Associate 17824792, 19668151
Adrenal Cortex Neoplasms Associate 24755947
AIDS Associated Nephropathy Inhibit 19886840
AIDS Associated Nephropathy Associate 31805958
Airway Obstruction Associate 39643430
Alexander Disease Associate 11567214, 16168593, 17038307, 17043438, 18388212, 18402384, 18653683, 18685083, 20110364, 20964669, 21572052, 21756903, 21917775, 21987397, 22488673
View all (28 more)
Alzheimer Disease Associate 19072283, 19686046, 19888461, 22832605, 23602650, 24269023, 2529544, 30040709, 30578620, 31454549, 32711556, 33049317, 33749648, 33905124, 34966527
View all (16 more)