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

Gene ID: 114785, updated on 23-Nov-2023

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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 15.8), spleen (RPKM 15.7) and 25 other tissues See more
Orthologs
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Genomic context

See MBD6 in Genome Data Viewer
Location:
12q13.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57520715..57531545)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57488889..57498388)
105.20220307 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)

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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_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_2023_10

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