GFAP (glial fibrillary acidic protein)

2009-06-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
ALXDRD
FUSION GENES

Other Information

Locus ID:

NCBI: 2670
MIM: 137780
HGNC: 4235
Ensembl: ENSG00000131095

Variants:

dbSNP: 2670
ClinVar: 2670
TCGA: ENSG00000131095
COSMIC: GFAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131095ENST00000253408A0A1X7SBR3
ENSG00000131095ENST00000376990B4DIR1
ENSG00000131095ENST00000435360P14136
ENSG00000131095ENST00000585728K7EJK1
ENSG00000131095ENST00000586125K7EPI4
ENSG00000131095ENST00000586793A0A1X7SCE1
ENSG00000131095ENST00000588037K7ELP4
ENSG00000131095ENST00000588316K7EKH9
ENSG00000131095ENST00000588735P14136
ENSG00000131095ENST00000588957K7EKD1
ENSG00000131095ENST00000591880K7EPT8
ENSG00000131095ENST00000592320K7EJU1
ENSG00000131095ENST00000593179A0A0G2JLI8
ENSG00000131095ENST00000638281P14136
ENSG00000131095ENST00000638304A0A1W2PPA3
ENSG00000131095ENST00000638400A0A1W2PPL2
ENSG00000131095ENST00000638618A0A1W2PRT3
ENSG00000131095ENST00000639042A0A1W2PS58
ENSG00000131095ENST00000639243A0A1W2PPF0
ENSG00000131095ENST00000639277A0A1W2PR46
ENSG00000131095ENST00000639369A0A1W2PP21
ENSG00000131095ENST00000639921A0A1W2PQU7
ENSG00000131095ENST00000640545A0A1W2PQ25
ENSG00000131095ENST00000640859A0A1W2PQS4

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
7000
8000
9000
10000

Pathways

PathwaySourceExternal ID
Jak-STAT signaling pathwayKEGGko04630
Jak-STAT signaling pathwayKEGGhsa04630
Signal TransductionREACTOMER-HSA-162582
Signaling by ERBB4REACTOMER-HSA-1236394
Nuclear signaling by ERBB4REACTOMER-HSA-1251985

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
257269162015Glial fibrillary acidic protein (GFAP) and the astrocyte intermediate filament system in diseases of the central nervous system.107
164585362006GFAP-positive progenitor cells produce neurons and oligodendrocytes throughout the CNS.94
210791802010GFAP and S100B are biomarkers of traumatic brain injury: an observational cohort study.89
217029602011Neuronal and glial markers are differently associated with computed tomography findings and outcome in patients with severe traumatic brain injury: a case control study.71
270188342016Time Course and Diagnostic Accuracy of Glial and Neuronal Blood Biomarkers GFAP and UCH-L1 in a Large Cohort of Trauma Patients With and Without Mild Traumatic Brain Injury.70
182766092008Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways.65
152389952004Age-dependent reductions in the level of glial fibrillary acidic protein in the prefrontal cortex in major depression.61
161479532005Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects.57
157320972005Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.53
194475842009Subcortical oligodendrocyte- and astrocyte-associated gene expression in subjects with schizophrenia, major depression and bipolar disorder.53

Citation

Dessen P

GFAP (glial fibrillary acidic protein)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50981/gfap