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

    Gene ID: 2764, updated on 3-Dec-2024

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    glia maturation factor beta
    Names
    GMF-beta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004124.3NP_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:9130
      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_054375875.1XP_054231850.1  glia maturation factor beta isoform X1

      UniProtKB/TrEMBL
      G3V4P8
    2. XM_054375876.1XP_054231851.1  glia maturation factor beta isoform X2

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

      UniProtKB/TrEMBL
      Q59G69