MBD6 (methyl-CpG binding domain protein 6)

2014-08-01  

Identity

HGNC
MBD6
LOCATION
12q13.3
LOCUSID
114785
ALIAS
-
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
207004562010The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.37
230552672012The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.29
246344192014MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.26
230522072013MBD6 is a direct target of Oct4 and controls the stemness and differentiation of adipose tissue-derived stem cells.6
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
313139362019The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas.0

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/mbd6