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    Mbd5 methyl-CpG binding domain protein 5 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 311026, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mbd5provided by RGD
    Official Full Name
    methyl-CpG binding domain protein 5provided by RGD
    Primary source
    RGD:1562961
    See related
    EnsemblRapid:ENSRNOG00000027596 AllianceGenome:RGD:1562961
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable chromatin binding activity. Predicted to be involved in nervous system development and regulation of behavior. Predicted to act upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in chromocenter; midbody; and nucleoplasm. Human ortholog(s) of this gene implicated in autism spectrum disorder and autosomal dominant intellectual developmental disorder 1. Orthologous to human MBD5 (methyl-CpG binding domain protein 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 63.3), Thymus (RPKM 53.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mbd5 in Genome Data Viewer
    Location:
    3q12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (53742458..54147970)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (33588854..33738730)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (33364812..33504144)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134486282 Neighboring gene activin A receptor type 2A Neighboring gene origin recognition complex, subunit 4 Neighboring gene uncharacterized LOC120101434 Neighboring gene enhancer of polycomb homolog 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Walz K, et al. Rare Dis, 2014. PMID 26942102, Free PMC Article
    2. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Mullegama SV, et al. Eur J Hum Genet, 2014 Jan. PMID 23632792, Free PMC Article
    3. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Hodge JC, et al. Mol Psychiatry, 2014 Mar. PMID 23587880, Free PMC Article
    4. Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Bonnet C, et al. Eur J Hum Genet, 2013 Dec. PMID 23422940, Free PMC Article
    5. The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice. Du Y, et al. PLoS One, 2012. PMID 23077600, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    NOT enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of growth hormone receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in chromocenter IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromocenter ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    methyl-CpG-binding domain protein 5

    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_001427822.2 → NP_001414751.1  methyl-CpG-binding domain protein 5

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A6JEZ4

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      53742458..54147970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063283556.1 → XP_063139626.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    2. XM_063283558.1 → XP_063139628.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    3. XM_063283552.1 → XP_063139622.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    4. XM_063283559.1 → XP_063139629.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    5. XM_063283554.1 → XP_063139624.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    6. XM_063283560.1 → XP_063139630.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    7. XM_063283555.1 → XP_063139625.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    8. XM_063283551.1 → XP_063139621.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    9. XM_063283564.1 → XP_063139634.1  methyl-CpG-binding domain protein 5 isoform X5

      UniProtKB/TrEMBL
      A6JEZ4

    10. XM_063283565.1 → XP_063139635.1  methyl-CpG-binding domain protein 5 isoform X6

    11. XM_063283550.1 → XP_063139620.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    12. XM_063283561.1 → XP_063139631.1  methyl-CpG-binding domain protein 5 isoform X4

      UniProtKB/TrEMBL
      A6JEZ4

    13. XM_063283562.1 → XP_063139632.1  methyl-CpG-binding domain protein 5 isoform X4

      UniProtKB/TrEMBL
      A6JEZ4

    14. XM_056985410.2 → XP_056841390.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    15. XM_056985413.2 → XP_056841393.1  methyl-CpG-binding domain protein 5 isoform X2

      UniProtKB/TrEMBL
      A6JEZ4

    16. XM_063283553.1 → XP_063139623.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    17. XM_056985414.2 → XP_056841394.1  methyl-CpG-binding domain protein 5 isoform X3

      UniProtKB/TrEMBL
      A6JEZ4

    18. XM_056985411.2 → XP_056841391.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4

    19. XM_056985412.2 → XP_056841392.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GWQ8, A6JEZ4
      Related
      ENSRNOP00000075986.1, ENSRNOT00000092907.3

    20. XM_063283563.1 → XP_063139633.1  methyl-CpG-binding domain protein 5 isoform X4

      UniProtKB/TrEMBL
      A6JEZ4

    RNA

    1. XR_005502931.2 RNA Sequence

    2. XR_005502930.2 RNA Sequence

    3. XR_010064610.1 RNA Sequence

    4. XR_010064609.1 RNA Sequence

    5. XR_005502932.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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