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

    Gene ID: 2764, updated on 10-Dec-2024

    Summary

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    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, Dec 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

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    See GMFB in Genome Data Viewer
    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_000014.9Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase inhibitor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:54907701-54908499 Neighboring gene cornichon family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8412 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:54976514-54976699 Neighboring gene cell growth regulator with ring finger domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5772 Neighboring gene sterile alpha motif domain containing 4A Neighboring gene uncharacterized LOC112268133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8413 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:55116884-55117491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:55117492-55118098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:55119678-55120414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8414

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of glia maturation factor in neuropathological lesions of Alzheimer's disease. Thangavel R, et al. Neuropathol Appl Neurobiol, 2012 Oct. PMID 22035352, Free PMC Article
    2. Molecular cloning and expression of biologically active human glia maturation factor-beta. Kaplan R, et al. J Neurochem, 1991 Aug. PMID 1712830
    3. Glia maturation factor-beta is produced by thymoma and may promote intratumoral T-cell differentiation. Yamazaki H, et al. Histopathology, 2005 Sep. PMID 16115230
    4. [Effect of glia maturation factor beta on the activation of hepatic stellate cells and on liver fibrosis]. Rao HY, et al. Zhonghua Gan Zang Bing Za Zhi, 2007 Dec. PMID 18171522
    5. Identification of glia maturation factor beta as an independent prognostic predictor for serous ovarian cancer. Li YL, et al. Eur J Cancer, 2010 Jul. PMID 20547056

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. G9a Inhibition Promotes Neuroprotection through GMFB Regulation in Alzheimer's Disease.
      Title: G9a Inhibition Promotes Neuroprotection through GMFB Regulation in Alzheimer's Disease.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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.

    mRNA and Protein(s)

    1. NM_004124.3 → NP_004115.1  glia maturation factor beta

      See identical proteins and their annotated locations for NP_004115.1

      Status: VALIDATED

      Source sequence(s)
      AB001106, AI342496, AL359792, BG622077, BI547506
      Consensus CDS
      CCDS9718.1
      UniProtKB/Swiss-Prot
      B2R499, P17774, P60983, Q9BS35
      UniProtKB/TrEMBL
      G3V4P8
      Related
      ENSP00000350757.3, ENST00000358056.8
      Conserved Domains (1) summary
      cd11283
      Location:9 → 130
      ADF_GMF-beta_like; ADF-homology domain of glia maturation factor beta and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      54474485..54488980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      48679656..48694147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375875.1 → XP_054231850.1  glia maturation factor beta isoform X1

      UniProtKB/TrEMBL
      G3V4P8

    2. XM_054375876.1 → XP_054231851.1  glia maturation factor beta isoform X2

    3. XM_054375877.1 → XP_054231852.1  glia maturation factor beta isoform X3

      UniProtKB/TrEMBL
      Q59G69
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60983.2 GenPept UniProtKB/Swiss-Prot:P60983

    Gene LinkOut

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