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    MBD6 methyl-CpG binding domain protein 6 [ Homo sapiens (human) ]

    Gene ID: 114785, updated on 3-Dec-2024

    Summary

    Official Symbol
    MBD6provided by HGNC
    Official Full Name
    methyl-CpG binding domain protein 6provided by HGNC
    Primary source
    HGNC:HGNC:20445
    See related
    Ensembl:ENSG00000166987 MIM:619458; AllianceGenome:HGNC:20445
    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
    Summary
    Enables chromatin binding activity. Located in chromocenter; fibrillar center; and nucleoplasm. Implicated in autism spectrum disorder. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.8), spleen (RPKM 15.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MBD6 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57520715..57531545)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57488889..57498388)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57916607..57923931)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methionyl-tRNA synthetase 1 Neighboring gene uncharacterized LOC128125814 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57913133-57914094 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57914069-57915268 Neighboring gene microRNA 6758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57916016-57916975 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616 Neighboring gene dynactin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57944162-57944754 Neighboring gene kinesin family member 5A Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57955995-57956161 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57956855-57957072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57984713-57985214 Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1887

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in chromocenter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromocenter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methyl-CpG-binding domain protein 6
    Names
    methyl-CpG-binding protein MBD6

    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_052897.4NP_443129.3  methyl-CpG-binding domain protein 6

      See identical proteins and their annotated locations for NP_443129.3

      Status: VALIDATED

      Source sequence(s)
      AB067474, AC022506, AK056399
      Consensus CDS
      CCDS8944.1
      UniProtKB/Swiss-Prot
      Q8N3M0, Q8NA81, Q96DN6, Q96Q00
      UniProtKB/TrEMBL
      Q6P0P0
      Related
      ENSP00000347896.3, ENST00000355673.8
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...

    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
      57520715..57531545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537851.4XP_011536153.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011536153.1

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    2. XM_006719218.2XP_006719281.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_006719281.1

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    3. XM_006719217.2XP_006719280.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_006719280.1

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    4. XM_047428237.1XP_047284193.1  methyl-CpG-binding domain protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q8N3M0, Q8NA81, Q96DN6, Q96Q00
      UniProtKB/TrEMBL
      Q6P0P0
    5. XM_005268617.3XP_005268674.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005268674.1

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    6. XM_005268620.4XP_005268677.1  methyl-CpG-binding domain protein 6 isoform X3

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    7. XM_005268618.2XP_005268675.1  methyl-CpG-binding domain protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005268675.1

      UniProtKB/TrEMBL
      Q6P0P0
      Conserved Domains (1) summary
      cl00110
      Location:1684
      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 ...
    8. XM_047428238.1XP_047284194.1  methyl-CpG-binding domain protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q8N3M0, Q8NA81, Q96DN6, Q96Q00
      UniProtKB/TrEMBL
      Q6P0P0

    RNA

    1. XR_007063031.1 RNA Sequence

    2. XR_007063034.1 RNA Sequence

    3. XR_007063033.1 RNA Sequence

    4. XR_007063029.1 RNA Sequence

    5. XR_007063035.1 RNA Sequence

    6. XR_007063032.1 RNA Sequence

    7. XR_429075.3 RNA Sequence

    8. XR_429073.3 RNA Sequence

    9. XR_429076.3 RNA Sequence

    10. XR_429078.3 RNA Sequence

    11. XR_007063030.1 RNA Sequence

    12. XR_429079.3 RNA Sequence

    13. XR_001748569.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57488889..57498388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370988.1XP_054226963.1  methyl-CpG-binding domain protein 6 isoform X1

      UniProtKB/TrEMBL
      Q6P0P0
    2. XM_054370992.1XP_054226967.1  methyl-CpG-binding domain protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q8N3M0, Q8NA81, Q96DN6, Q96Q00
      UniProtKB/TrEMBL
      Q6P0P0
    3. XM_054370989.1XP_054226964.1  methyl-CpG-binding domain protein 6 isoform X1

      UniProtKB/TrEMBL
      Q6P0P0
    4. XM_054370990.1XP_054226965.1  methyl-CpG-binding domain protein 6 isoform X1

      UniProtKB/TrEMBL
      Q6P0P0
    5. XM_054370987.1XP_054226962.1  methyl-CpG-binding domain protein 6 isoform X1

      UniProtKB/TrEMBL
      Q6P0P0
    6. XM_054370994.1XP_054226969.1  methyl-CpG-binding domain protein 6 isoform X3

      UniProtKB/TrEMBL
      Q6P0P0
    7. XM_054370993.1XP_054226968.1  methyl-CpG-binding domain protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q8N3M0, Q8NA81, Q96DN6, Q96Q00
      UniProtKB/TrEMBL
      Q6P0P0
    8. XM_054370991.1XP_054226966.1  methyl-CpG-binding domain protein 6 isoform X1

      UniProtKB/TrEMBL
      Q6P0P0

    RNA

    1. XR_008488519.1 RNA Sequence

    2. XR_008488517.1 RNA Sequence

    3. XR_008488520.1 RNA Sequence

    4. XR_008488511.1 RNA Sequence

    5. XR_008488514.1 RNA Sequence

    6. XR_008488512.1 RNA Sequence

    7. XR_008488513.1 RNA Sequence

    8. XR_008488515.1 RNA Sequence

    9. XR_008488516.1 RNA Sequence

    10. XR_008488518.1 RNA Sequence