Gene Gene information from NCBI Gene database.
Entrez ID 114785
Gene name Methyl-CpG binding domain protein 6
Gene symbol MBD6
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q13.3
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT022555 hsa-miR-124-3p Microarray 18668037
MIRT030471 hsa-miR-24-3p qRT-PCR;Microarray 19748357
MIRT052082 hsa-let-7b-5p CLASH 23622248
MIRT232511 hsa-miR-532-3p PAR-CLIP 20371350
MIRT232510 hsa-miR-150-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IDA 20700456
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 20700456
GO:0005515 Function Protein binding IPI 28514442, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619458 20445 ENSG00000166987
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DN6
Protein name Methyl-CpG-binding domain protein 6 (Methyl-CpG-binding protein MBD6)
Protein function Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:24634419). Important for stability of PR
Family and domains
Sequence
MNGGNESSGADRAGGPVATSVPIGWQRCVREGAVLYISPSGTELSSLEQTRSYLLSDGTC
KCGLECPLNVPKVFNFDPLAPVTPGGAGVGPASEEDMTKLCNHRRKAVAMATLYRSMETT
CSHSSPGEGASPQMFHTVSPGPPSARPPCRVPPTTPLNGGPGSLPPEPPSVSQAFPTLAG
PGGLFPPRLADPVPSGGSSSPRFLPRGNAPSPAPPPPPAISLNAPSYNWGAALRSSLVPS
DLGSPPAPHASSSPPSDPPLFHCSDALTPPPLPPSNNLPAHPGPASQPPVSSATMHLPLV
LGPLGGAPTVEGPGAPPFLASSLLSAAAKAQHPPLPPPSTLQGRRPRAQAPSASHSSSLR
PSQRRPRRPPTVFRLLEGRGPQTPRRSRPRAPAPVPQPFSLPEPSQPILPSVLSLLGLPT
PGPSHSDGSFNLLGSDAHLPPPPTLSSGSPPQPRHPIQPSLPGTTSGSLSSVPGAPAPPA
ASKAPVVPSPVLQSPSEGLGMGAGPACPLPPLAGGEAFPFPSPEQGLALSGAGFPGMLGA
LPLPLSLGQPPPSPLLNHSLFGVLTGGGGQPPPEPLLPPPGGPGPPLAPGEPEGPSLLVA
SLLPPPPSDLLPPPSAPPSNLLASFLPLLALGPTAGDGEGSAEGAGGPSGEPFSGLGDLS
PLLFPPLSAPPTLIALNSALLAATLDPPSGTPPQPCVLSAPQPGPPTSSVTTATTDPGAS
SLGKAPSNSGRPPQLLSPLLGASLLGDLSSLTSSPGALPSLLQPPGPLLSGQLGLQLLPG
GGAPPPLSEASSPLACLLQSLQIPPEQPEAPCLPPESPASALEPEPARPPLSALAPPHGS
PDPPVPELLTGRGSGKRGRRGGGGLRGINGEARPARGRKPGSRREPGRLALKWGTRGGFN
GQMERSPRRTHHWQHNGELAEGGAEPKDPPPPGPHSEDLKVPPGVVRKSRRGRRRKYNPT
RNSNSSRQDITLEPSPTARAAVPLPPRARPGRPAKNKRRKLAP
Sequence length 1003
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   UCH proteinases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MBD6-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism BEFREE 23055267
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 23055267 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 23055267 Associate
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 27744583 Associate
★☆☆☆☆
Found in Text Mining only
Hepatolenticular Degeneration Hepatolenticular Degeneration BEFREE 27744583, 30230192, 31321400
★☆☆☆☆
Found in Text Mining only
Hepatolenticular Degeneration Hepatolenticular degeneration Pubtator 27744583 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31313936
★☆☆☆☆
Found in Text Mining only
Uterine Fibroids Uterine Fibroids BEFREE 31313936
★☆☆☆☆
Found in Text Mining only