MBD6 (methyl-CpG binding domain protein 6)

2014-08-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 114785
HGNC: 20445
Ensembl: ENSG00000166987

Variants:

dbSNP: 114785
ClinVar: 114785
TCGA: ENSG00000166987
COSMIC: MBD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166987ENST00000355673Q96DN6
ENSG00000166987ENST00000355673A0A024RBA3
ENSG00000166987ENST00000546632F8VNX1
ENSG00000166987ENST00000546805F8VVK7
ENSG00000166987ENST00000547545A0A0C4DGJ6
ENSG00000166987ENST00000547844H0YHN1
ENSG00000166987ENST00000548887F8VU14
ENSG00000166987ENST00000549042F8VW40
ENSG00000166987ENST00000549623F8VPC4
ENSG00000166987ENST00000551351F8VNX1
ENSG00000166987ENST00000552163H0YIU1
ENSG00000166987ENST00000552255F8VZD7
ENSG00000166987ENST00000552659H0YHD1

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
313139362019The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas.1
313139362019The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas.1
277445832017Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics.4
277445832017Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics.4
256383272015Mutation and expression of a methyl-binding protein 6 (MBD6) in gastric and colorectal cancers.1
256383272015Mutation and expression of a methyl-binding protein 6 (MBD6) in gastric and colorectal cancers.1
246344192014MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.48
246344192014MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.48
230522072013MBD6 is a direct target of Oct4 and controls the stemness and differentiation of adipose tissue-derived stem cells.11
230522072013MBD6 is a direct target of Oct4 and controls the stemness and differentiation of adipose tissue-derived stem cells.11
230552672012The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.46
230552672012The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.46
207004562010The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.49
207004562010The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.49

Citation

Dessen P

MBD6 (methyl-CpG binding domain protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54444/js/lib/favicon/manifest.json