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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GFAP Gene

protein-coding GIFtS: 67
GCID: GC17M042982

glial fibrillary acidic protein

Explore 221 diseases affiliated with
GFAP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glial Fibrillary Acidic Protein¹ ²
FLJ45472¹

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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 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 plasmid: GFAP 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 Q53H98 Q5D055 Q6ZQS3 Q7Z5J6 Q7Z5J7 Q96KS4 Q96P18 Q9UFD0

Alternative splicing: 3 isoforms: P14136-1 P14136-2 P14136-3 (Variant in position: 426:V->A. Variant in position: 426:V->T)

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

Post-translational modifications:

Phosphorylated by PKN1¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P14136

GFAP Protein expression data from MOPED and PaxDb: About this image

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:

	EMD Millipore Purified and/or Recombinant GFAP Protein
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: GFAP OriGene Protein Over-expression Lysate (see all 2): 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 ProSpec Recombinant Proteins
	Uscn Proteins for GFAP

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	12355421
GO:0005829	cytosol	TAS	--
GO:0005882	intermediate filament	IEA	--
GO:0016020	membrane	IEA	--

GFAP for ontologies About GeneDecksing

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
	OriGene Antibodies (see all 22): GFAP OriGene Custom Antibody Services for GFAP
	GenScript Superior Antibodies for GFAP
	Novus Biologicals GFAP Antibodies
	Abcam antibodies for GFAP
	Uscn Antibodies for GFAP
	ThermoFisher Antibody for GFAP

Assay Products for GFAP:

	EMD Millipore Kits and Assays for the Analysis of GFAP
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GFAP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GFAP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GFAP for domains About GeneDecksing

3 InterPro domains/families:

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 families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

Genatlas biochemistry entry for GFAP:

glial fibrillary acidic protein,49.8kDa,almost exclusively expressed in astrocytes,interacting with S100A1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): GFAP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFAP
		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 plasmid: GFAP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFAP (see all 7) OriGene shRNA RFP: GFAP OriGene siRNA: GFAP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GFAP

Gene Editing
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DNA2.0 Custom Protein Engineering Service for GFAP

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		GenScript: all cDNA clones in your preferred vector (see all 2): GFAP (NM_002055)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFAP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GFAP
		Search LifeMap BioReagents cell lines for GFAP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFAP

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005178	integrin binding	IEA	--
GO:0005198	structural molecule activity	--	--
GO:0005200	structural constituent of cytoskeleton	IEA	--
GO:0005515	protein binding	--	--
GO:0019900	kinase binding	IEA	--

GFAP for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for GFAP:

Increased circadian period len

Animal Models:
Mouse knock-outs for GFAP: Gfap^tm1Pkny Gfap^tm1Mes Gfap^tm1Ldtk
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeleton remodeling Neurofilaments

Cytoskeleton remodeling Neurofilaments

1.00

Cytoskeleton remodeling_Neurofilaments

0.91

Neuroscience

Neuroscience

1.00

Transcription of GFAP and S100B

Transcription of GFAP and S100B

1.00

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Rho Family GTPases

Rho Family GTPases

1.00

Pathway sources
See GeneCards unified pathways
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

1 BioSystems Pathway for GFAP

Neural Crest Differentiation

4 Reactome Pathways for GFAP

	Signal Transduction
	Signaling by ERBB4
	Transcription of GFAP and S100B
	Nuclear signaling by ERBB4

GFAP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GFAP

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

5/114 Interacting proteins for GFAP (P14136^{2, 3} ENSP00000253408⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 114)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYO15B	Q96JP2²^,³, ENSP00000293201⁴	MINT-67875 I2D: score=1 STRING: ENSP00000293201
CEP76	Q8TAP6²^,³, ENSP00000262127⁴	MINT-68330 I2D: score=5 STRING: ENSP00000262127
PDLIM1	O00151²^,³, ENSP00000360305⁴	MINT-66480 I2D: score=5 STRING: ENSP00000360305
SH3YL1	Q96HL8²^,³, ENSP00000404143⁴	MINT-67449 I2D: score=5 STRING: ENSP00000404143
VIM	P08670²^,³, ENSP00000224237⁴	MINT-66894 I2D: score=5 STRING: ENSP00000224237

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009611	response to wounding	IEA	--
GO:0010625	positive regulation of Schwann cell proliferation	IEA	--
GO:0010977	negative regulation of neuron projection development	IEA	--
GO:0014002	astrocyte development	IEA	--
GO:0030198	extracellular 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, 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 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 235 Homo sapiens; Mar 10 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,
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, 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): GFAP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFAP
		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 plasmid: GFAP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFAP (see all 7) OriGene shRNA RFP: GFAP OriGene siRNA: GFAP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GFAP

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GFAP (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GFAP (see all 2) 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)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFAP

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GFAP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFAP

Additional cDNA 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

24/73 DOTS entries (see all 73):

DT.91640961 DT.95329296 DT.95188082 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):

BM675623 AA322945 BP348568 NM_002055 AI085549 BP350248 BP348709 AI627424

CB153173 AA351135 AA325736 BQ882753 BP349426 BI039219 AI880338 BP348875

AA322212 BP362831 BP362642 BP348898 AA322498 BP348531 N64666 AI880320

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTTGTCCC

About this image

GFAP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Selective marker (cell-identifying gene)

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Liver

Sinusoids

Hepatic Stellate Cells

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

Neural stem cells (Fetal Stem / Progenitor Cell)

Spinal Cord

GABA neuron-like cells (Generation of motor ...)

Brain

Motor neuron-like cells (Generation of motor ...)

Schwann-like cells (Derivation of neural...)

Otx2+Corin+ cells (Derivation of functi...)

Endothelial cells and neural cells (Derivation of blood-...)

Retina-like cells (Generation of retina...)

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:

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Multiple Sclerosis in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFAP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFAP

(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 animals.

Orthologs for GFAP gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	69(a)	possible ortholog 1 ↔ 1	AAWZ02039762(4434-6932) 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
worm (Caenorhabditis elegans)	Secernentea	ifp-1⁶ ifc-2⁶ (see all 12)	Intermediate filament protein ifc-2 (see all 12)	8(a) 6(a) (see all 12)	possible ortholog possible ortholog (see all 12)	X(9675786-9680111) X(642160-654902)

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 SYNM² VIM² INA² LMNA² NES² PRPH² DES²

NEFM² LMNB2² NEFH²

18/60 SIMAP similar genes for GFAP using alignment to 13 protein entries: GFAP_HUMAN (see all proteins) (see all similar genes):

KRTHB6 VIM DES KRT79 DKFZp761K0922 tmp_locus_29

INA NEFL NEFM PRPH KRT4 KRTHB1

GUCA1B KRT2 KRT78 keratin KRT8 KRT1

GFAP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs57120761^1,2	C	pathogenic	39838943(-)	`TGGAGC/G/TTCAAT`	9	L V F	mis¹		0	--	--	--	--
rs58732244^1,2	C	pathogenic	39838946(-)	`AGCTCA/TATGAC`	6	N Y	mis¹		0	--	--	--	--
rs59793293^1,2	C	pathogenic	39838952(-)	`ATGACA/C/G/T GCTTT`	12	S R G C	mis¹		0	--	--	--	--
rs59285727^1,2	C	pathogenic	39838953(-)	`TGACCA/C/G/T CTTTG`	12	H P R L	mis¹		0	--	--	--	--
rs61622935^1,2	C	pathogenic	39838979(-)	`AGGTTA/C/TGCTTC`	9	S R C	mis¹		0	--	--	--	--
rs58064122^1,2	C	pathogenic	39840870(-)	`AGATCC/TGCACG`	6	R C	mis¹		0	--	--	--	--
rs59565950^1,2	C	pathogenic	39840871(-)	`GATCCA/C/G/T CACGC`	12	H P R L	mis¹		0	--	--	--	--
rs121909719^1,2	C	pathogenic	39842453(-)	`GCTCCG/TCCAGG`	6	R L	mis¹		0	--	--	--	--
rs28932769^1,2	C	pathogenic	39842896(-)	`GGACCT/CGCTCA`	6	/P /L	mis¹		2		NA	4
rs121909718^1,2	C	pathogenic	39842927(-)	`ATCGAC/GATCGC`	6	D E	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GFAP (42982376 - 42994305 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GFAP
1 CNV: 49861
Human Gene Mutation Database (HGMD): GFAP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

GFAP for disorders           About GeneDecksing

OMIM gene information: 137780
OMIM disorders: 203450
UniProtKB/Swiss-Prot: GFAP_HUMAN, P14136

Defects in GFAP are a cause of Alexander disease (ALEXD) [MIM:203450]. Alexander disease is a rare disorder of

the central nervous system. It is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of

Rosenthal fibers which are cytoplasmic inclusions in astrocytes. The most common form affects infants and young

children, and is characterized by progressive failure of central myelination, usually leading to death usually within

the first decade. Infants with Alexander disease develop a leukoencephalopathy 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

20/221 diseases for GFAP (see all 221): About MalaCards

alexander disease dentatorubral-pallidoluysian atrophy primitive neuroectodermal tumor subcortical arteriosclerotic encephalopathy

gliomatosis cerebri maple syrup urine disease atypical teratoid rhabdoid tumor spinal cord injury

normal pressure hydrocephalus supratentorial primitive neuroectodermal tumor ring chromosome 7 amyotrophic lateral sclerosis

guillain-barre syndrome subependymal giant cell astrocytoma sudden infant death syndrome intracranial primitive neuroectodermal tumor

ring chromosomes epithelial-myoepithelial carcinoma complex regional pain syndrome gemistocytic astrocytoma

20/32 diseases from the University of Copenhagen DISEASES database for GFAP (see all 32):

Malignant glioma Brain disease Toxic encephalopathy Brain cancer

Alzheimer's disease Vascular disease Medulloblastoma Meningioma

Ganglioglioma Neurilemmoma Myoepithelioma Subependymal giant cell astrocytoma

Amyotrophic lateral sclerosis Myxopapillary ependymoma Retinal detachment Multiple sclerosis

Glaucoma Proliferative vitreoretinopathy Medulloepithelioma Pleomorphic adenoma

10/98 Novoseek 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

Alexander Disease

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 1592):
(articles sorted by number of sources associating them with GFAP)

Utopia: connect your pdf to the dynamic
world of online information

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)
Infantile Alexander disease: spectrum of GFAP mutations and genotype- phenotype correlation. (PubMed id 11567214)^{1, 2, 9} Rodriguez D.... Boespflug-Tanguy O. (2001)
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)
Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. (PubMed id 2163003)^{1, 2, 9} Brenner M.... Freese E. (1990)
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PubMed id 11138011)^{1, 2, 9} Brenner M.... Messing A. (2001)
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)
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)
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? (PubMed id 12944715)^{1, 2, 9} Brockmann K.... Hanefeld F. (2003)
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)
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)
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		AND	OR
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)
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

Name	Description
PharmGKB entry for GFAP	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GFAP
Wikipedia	http://en.wikipedia.org/wiki/Glial_fibrillary_acidic_protein

Intellectual Property for GFAP gene
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Patent Information for GFAP gene:
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GeneCards and IP:
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GFAP Gene

glial fibrillary acidic protein

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