Gfap MGI Mouse Gene Detail - MGI:95697 - glial fibrillary acidic protein

Gfap Gene Detail

Symbol

Gfap
Name

glial fibrillary acidic protein

Feature Type

protein coding gene
IDs

MGI:95697
NCBI Gene: 14580

Sequence Map

Chr11:102887336-102900912 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

13577 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 66.48 cM, cytoband D
Mapping Data

21 experiments
Sequence Tags

D11Nds5, D11Nds7

Human Ortholog

GFAP, glial fibrillary acidic protein

Vertebrate Orthologs

9

Human Ortholog

GFAP, glial fibrillary acidic protein
Orthology source: HomoloGene, HGNC
Synonyms

ALXDRD
Links

HGNC:4235

NCBI Gene ID: 2670

neXtProt AC: NX_P14136
Chr Location

17q21; chr17:44905626-44915552 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 1554
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish
HCOP

human homology predictions: GFAP
Gene Tree

Gfap

Diseases

1 with Gfap mouse models; 1 with human GFAP associations

Human Disease

Mouse Models

Alexander Disease; ALXDRD OMIM: 203450

View 7 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

5 with disease annotations

References

8 with disease annotations

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Phenotype Summary

25 phenotypes from 10 alleles in 5 genetic backgrounds
37 phenotypes from multigenic genotypes
66 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Targeted

14
Transgenic

3
Genomic Mutations

1 involving Gfap
Incidental Mutations

APF

Homozygotes for targeted null mutations show reduced astrocyte-associated intermediate filaments, enhanced long-term potentiation and impaired eye-blink conditioning. Aged mutants may show hydrocephaly, reduced myelination and impaired blood-brain barrier.

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All GO Annotations

38
GO References

35

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

482
Tissues

221
cDNA Data

249
Literature Summary

686

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO
Other Vertebrate Links

GEISHA GFAP

ZFIN gfap

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Gfap interacts with 183 markers (Mir7-2, Mir7b, Mir9-1, ...) View All

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All Sequences

43
RefSeq

5
UniProt

2
CCDS

CCDS25507.1, CCDS48950.1
UniGene

1239

			Length	Strain/Species	Flank
genomic	OTTMUSG00000003084	VEGA Gene Model \| MGI Sequence Detail	13577	C57BL/6J	± kb
transcript	OTTMUST00000006346	VEGA \| MGI Sequence Detail	2648	Not Applicable
polypeptide	OTTMUSP00000002989	VEGA \| MGI Sequence Detail	430	Not Applicable

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SNPs within 2kb

166 from dbSNP Build 142

PCR

14
RFLP

5

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UniProt

2 Sequences
Protein Ontology

PR:000007939 glial fibrillary acidic protein
InterPro Domains

IPR027701 Glial fibrillary acidic protein

IPR006821 Intermediate filament head, DNA-binding domain

IPR001664 Intermediate filament protein

IPR018039 Intermediate filament protein, conserved site

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All nucleic 273

Genomic 5

cDNA 249

Primer pair 17

Other 2

Microarray probesets 5

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MGD-MRK-10055, MGI:2144272

Summaries

All 827

Developmental Gene Expression 686

Diseases 8

Gene Ontology 35

Phenotypes 66
Earliest

J:7424 Lewis SA, et al., Sequence of a cDNA clone encoding mouse glial fibrillary acidic protein: structural conservation of intermediate filaments. Proc Natl Acad Sci U S A. 1984 May;81(9):2743-6
Latest

J:234565 He D, et al., Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination. Nat Neurosci. 2016 May;19(5):678-89

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 09/27/2016 MGI 6.05