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    Mbd5 methyl-CpG binding domain protein 5 [ Mus musculus (house mouse) ]

    Gene ID: 109241, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mbd5provided by MGI
    Official Full Name
    methyl-CpG binding domain protein 5provided by MGI
    Primary source
    MGI:MGI:2138934
    See related
    Ensembl:ENSMUSG00000036792 AllianceGenome:MGI:2138934
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm1630; 9430004D19Rik; C030040A15Rik
    Summary
    Predicted to enable chromatin binding activity. Acts upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in midbody and nucleoplasm. Predicted to be active in chromocenter and nucleus. Is expressed in several structures, including brain; liver; small intestine; spinal cord; and spleen. Used to study autosomal dominant intellectual developmental disorder. 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
    Ubiquitous expression in frontal lobe adult (RPKM 3.0), cerebellum adult (RPKM 2.9) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mbd5 in Genome Data Viewer
    Location:
    2 C1.1; 2 28.43 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (48839511..49209702)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (48949499..49319688)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene activin receptor IIA Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:48804892-48805001 Neighboring gene origin recognition complex, subunit 4 Neighboring gene predicted gene 13510 Neighboring gene adaptor-related protein complex 2, mu 1 subunit, pseudogene Neighboring gene STARR-seq mESC enhancer starr_04438 Neighboring gene 40S ribosomal protein S3a pseudogene Neighboring gene STARR-seq mESC enhancer starr_04439 Neighboring gene predicted gene, 25215

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    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 chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in midbody ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    methyl-CpG-binding domain protein 5
    Names
    methyl-CpG-binding protein MBD5

    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_001290656.1NP_001277585.1  methyl-CpG-binding domain protein 5 isoform b

      See identical proteins and their annotated locations for NP_001277585.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. The 5' UTR of this variant is incomplete due to a lack of full-length transcript support and splice pattern ambiguity in the upstream region.
      Source sequence(s)
      AL845298, AV298746, BQ551845, BU610422, BX546465, CB522230
      Consensus CDS
      CCDS71051.1
      UniProtKB/Swiss-Prot
      B1AYB6, B1AYB7
      UniProtKB/TrEMBL
      Q69ZJ2
      Related
      ENSMUSP00000108374.2, ENSMUST00000112754.8
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:13871464
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    2. NM_029924.2NP_084200.1  methyl-CpG-binding domain protein 5 isoform a

      See identical proteins and their annotated locations for NP_084200.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). This variant has an inferred 5' UTR exon combination based on the mRNA AK155574.1.
      Source sequence(s)
      AK173176, AL845298, AL845521
      Consensus CDS
      CCDS38122.1
      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      48839511..49209702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157515.1XP_036013408.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    2. XM_030246630.2XP_030102490.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    3. XM_036157519.1XP_036013412.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    4. XM_030246635.2XP_030102495.1  methyl-CpG-binding domain protein 5 isoform X3

      UniProtKB/Swiss-Prot
      B1AYB6, B1AYB7
      UniProtKB/TrEMBL
      Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:13871464
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    5. XM_036157520.1XP_036013413.1  methyl-CpG-binding domain protein 5 isoform X3

      UniProtKB/Swiss-Prot
      B1AYB6, B1AYB7
      UniProtKB/TrEMBL
      Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:13871464
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    6. XM_036157511.1XP_036013404.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    7. XM_036157512.1XP_036013405.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    8. XM_030246625.2XP_030102485.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    9. XM_036157516.1XP_036013409.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    10. XM_036157513.1XP_036013406.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    11. XM_017314911.3XP_017170400.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    12. XM_030246624.1XP_030102484.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    13. XM_030246638.2XP_030102498.1  methyl-CpG-binding domain protein 5 isoform X4

      UniProtKB/TrEMBL
      F6Q8U1
      Related
      ENSMUSP00000119317.2, ENSMUST00000122841.8
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:12541293
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    14. XM_006497604.3XP_006497667.1  methyl-CpG-binding domain protein 5 isoform X2

      UniProtKB/TrEMBL
      Q69ZJ2
      Conserved Domains (1) summary
      cl02554
      Location:14981575
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    15. XM_030246629.2XP_030102489.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Related
      ENSMUSP00000036847.4, ENSMUST00000047413.10
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
    16. XM_030246628.2XP_030102488.1  methyl-CpG-binding domain protein 5 isoform X1

      UniProtKB/TrEMBL
      B1AYB5, Q69ZJ2
      Conserved Domains (2) summary
      cl00110
      Location:2179
      MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...
      cl02554
      Location:16171694
      PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...

    RNA

    1. XR_003950018.1 RNA Sequence

    2. XR_003950019.1 RNA Sequence