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    MAGOHB mago homolog B, exon junction complex subunit [ Homo sapiens (human) ]

    Gene ID: 55110, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MAGOHBprovided by HGNC
    Official Full Name
    mago homolog B, exon junction complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:25504
    See related
    Ensembl:ENSG00000111196 MIM:619552; AllianceGenome:HGNC:25504
    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
    MGN2; mago; magoh
    Summary
    Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in nucleus. Part of U2-type catalytic step 1 spliceosome; U2-type precatalytic spliceosome; and exon-exon junction subcomplex mago-y14. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 3.2), appendix (RPKM 3.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGOHB in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10599524..10613609, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10472850..10486915, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10756789..10766208, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SLC25A39 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 2446 Neighboring gene uncharacterized LOC105376675 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:10724334-10724939 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:10733376-10734575 Neighboring gene killer cell lectin like receptor A1, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:10765265-10766144 and GRCh37_chr12:10766145-10767022 Neighboring gene serine/threonine/tyrosine kinase 1 Neighboring gene Y-box binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4238 Neighboring gene uncharacterized LOC124902876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4240

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. Soederberg A, et al. Cells, 2022 Nov 30. PMID 36497117, Free PMC Article
    2. An Atomic Structure of the Human Spliceosome. Zhang X, et al. Cell, 2017 May 18. PMID 28502770
    3. Assembly, disassembly and recycling: the dynamics of exon junction complexes. Bono F, et al. RNA Biol, 2011 Jan-Feb. PMID 21289489, Free PMC Article
    4. Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay. Singh KK, et al. RNA Biol, 2013 Aug. PMID 23917022, Free PMC Article
    5. The mammalian RNA-binding protein Staufen2 links nuclear and cytoplasmic RNA processing pathways in neurons. Monshausen M, et al. Neuromolecular Med, 2004. PMID 15970630

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A.
      Title: MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A.
    2. findings show 2 genes MAGOH and MAGOHB are expressed in mammals; in macrophages, expression of MAGOHB but not MAGOH mRNA increases after LPS stimulation; both MAGOH proteins interact with other exon junction complex (EJC) components, incorporate into mRNA-bound EJCs and activate nonsense-mediated decay
      Title: Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat downregulates the abundance of mago-nashi homolog B (MAGOHB) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10292

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA export from nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of mRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of exon-exon junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of exon-exon junction complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of exon-exon junction complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of exon-exon junction subcomplex mago-y14 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein mago nashi homolog 2
    Names
    mago homolog B, exon junction complex core component
    mago-nashi homolog B

    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_001300739.2 → NP_001287668.1  protein mago nashi homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_001287668.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' structure and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC021049, BG497574, BU933036, DB340467
      Consensus CDS
      CCDS76532.1
      UniProtKB/TrEMBL
      F5H6P7
      Conserved Domains (1) summary
      cl03715
      Location:1 → 102
      Mago_nashi; Mago nashi proteins, integral members of the exon junction complex

    2. NM_001319985.2 → NP_001306914.1  protein mago nashi homolog 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC021049, AF165518, BF667243, BG533740, CD357202
      Consensus CDS
      CCDS76532.1
      UniProtKB/TrEMBL
      F5H6P7
      Related
      ENSP00000437462.1, ENST00000539554.6
      Conserved Domains (1) summary
      cl03715
      Location:1 → 102
      Mago_nashi; Mago nashi proteins, integral members of the exon junction complex

    3. NM_018048.5 → NP_060518.1  protein mago nashi homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_060518.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC021049, AF165518, BG533740, CD357202
      Consensus CDS
      CCDS8628.1
      UniProtKB/Swiss-Prot
      Q96A72
      UniProtKB/TrEMBL
      A0A023T6R1
      Related
      ENSP00000319240.2, ENST00000320756.7
      Conserved Domains (1) summary
      cd11295
      Location:6 → 148
      Mago_nashi; Mago nashi proteins, integral members of the exon junction complex

    RNA

    1. NR_135120.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021049, BC000928, BG533740, CD357202

    2. NR_135121.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021049, BC000928, BG533740, BG539870

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      10599524..10613609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429058.1 → XP_047285014.1  protein mago nashi homolog 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10472850..10486915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372386.1 → XP_054228361.1  protein mago nashi homolog 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A72.1 GenPept UniProtKB/Swiss-Prot:Q96A72

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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