MBD5 (methyl-CpG binding domain protein 5)

2014-11-01 Affiliation

Identity

HGNC

MBD5

LOCATION

2q23.1

LOCUSID

55777

ALIAS

MRD1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55777
MIM: 611472
HGNC: 20444
Ensembl: ENSG00000204406

Variants:

dbSNP: 55777
ClinVar: 55777
TCGA: ENSG00000204406
COSMIC: MBD5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204406	ENST00000404807	E9PHH0
ENSG00000204406	ENST00000407073	Q9P267
ENSG00000204406	ENST00000416015	H7C066
ENSG00000204406	ENST00000627651	Q9P267
ENSG00000204406	ENST00000628572	A0A0D9SF16
ENSG00000204406	ENST00000629878	A0A0D9SG23
ENSG00000204406	ENST00000630352	A0A0D9SEP6
ENSG00000204406	ENST00000637159	A0A1B0GUJ9
ENSG00000204406	ENST00000638043	A0A1B0GW10
ENSG00000204406	ENST00000642680	A0A1B0GW10

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Deubiquitination	REACTOME	R-HSA-5688426
UCH proteinases	REACTOME	R-HSA-5689603

References

Pubmed ID	Year	Title	Citations
21981781	2011	Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.	86
20700456	2010	The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.	37
19904302	2010	Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.	36
23055267	2012	The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.	29
23587880	2014	Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.	27
24634419	2014	MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.	26
23632792	2014	Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.	19
21271666	2011	2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.	14
23422940	2013	Extended spectrum of MBD5 mutations in neurodevelopmental disorders.	13
25966365	2015	A molecular model for neurodevelopmental disorders.	13

Citation

Dessen P

MBD5 (methyl-CpG binding domain protein 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68828/mbd5