GMFB glia maturation factor beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: GMFBprovided by HGNC
Official Full Name: glia maturation factor betaprovided by HGNC
Primary source: HGNC:HGNC:4373
See related: Ensembl:ENSG00000197045 MIM:601713; AllianceGenome:HGNC:4373
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GMF
Summary: Predicted to enable Arp2/3 complex binding activity. Predicted to be involved in actin filament debranching and negative regulation of Arp2/3 complex-mediated actin nucleation. Predicted to act upstream of or within learning and locomotory behavior. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 45.0), colon (RPKM 21.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (54474485..54488980, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (48679656..48694147, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (54941203..54955698, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SUMOylation of GMFB regulates its stability and function in retinal pigment epithelial cells under hyperglycemia.
Title: SUMOylation of GMFB regulates its stability and function in retinal pigment epithelial cells under hyperglycemia.
Parkinson's Disease Dementia Patients: Expression of Glia Maturation Factor in the Brain.
Title: Parkinson's Disease Dementia Patients: Expression of Glia Maturation Factor in the Brain.
G9a Inhibition Promotes Neuroprotection through GMFB Regulation in Alzheimer's Disease.
Title: G9a Inhibition Promotes Neuroprotection through GMFB Regulation in Alzheimer's Disease.
MicroRNA-5195-3p alleviates high glucoseinduced injury in human ARPE-19 cells by targeting GMFB.
Title: MicroRNA-5195-3p alleviates high glucose‑induced injury in human ARPE-19 cells by targeting GMFB.
GMF acts as an important upstream regulator of PGC-1alpha in promoting dopaminergic neuronal death through its effect on oxidative stress-mediated apoptosis.
Title: Glia Maturation Factor Dependent Inhibition of Mitochondrial PGC-1α Triggers Oxidative Stress-Mediated Apoptosis in N27 Rat Dopaminergic Neuronal Cells.
GMF and ApoE4 were strongly expressed and co-associated in amyloid plaques (APs) and in the reactive astrocytes surrounding APs in Alzheimer's disease.
Title: Co-Expression of Glia Maturation Factor and Apolipoprotein E4 in Alzheimer's Disease Brain.
GMF-beta is an important player in glioma progression via promoting neovascularization.
Title: Expressions of glia maturation factor-β by tumor cells and endothelia correlate with neovascularization and poor prognosis in human glioma.
The distribution of GMF-immunoreactive cells in and around amyloid plaques and neurofibrillary tangles suggests involvement of GMF in inflammatory responses through reactive glia and a role of GMF in Alzheimer disease pathology.
Title: Expression of glia maturation factor in neuropathological lesions of Alzheimer's disease.
GMF co-localizes with amyloid plaques and neurofibrillary tangles in Alzheimer brains, implicating significant upregulation of GMF expression under conditions of neurodegeneration.
Title: Augmented expression of glia maturation factor in Alzheimer's disease.
There is a significant increase in GMF beta protein expression levels in IFN beta-1a treated LX-2 cells.
Title: [Effect of glia maturation factor beta on the activation of hepatic stellate cells and on liver fibrosis].

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gmfb (e-PCR), detects polymorphism
- UniSTS:534572

RH70723 (e-PCR)
- UniSTS:29254

STS-M86492 (e-PCR)
- UniSTS:67972

D14S1327 (e-PCR)
- UniSTS:63449

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables enzyme activator activity	TAS Traceable Author Statement more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein kinase inhibitor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament debranching	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: glia maturation factor beta

Names: GMF-beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.