MBD5 (methyl-CpG binding domain protein 5)

2014-11-01  

Identity

HGNC
MBD5
LOCATION
2q23.1
LOCUSID
55777
ALIAS
MRD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204406ENST00000404807E9PHH0
ENSG00000204406ENST00000407073Q9P267
ENSG00000204406ENST00000416015H7C066
ENSG00000204406ENST00000627651Q9P267
ENSG00000204406ENST00000628572A0A0D9SF16
ENSG00000204406ENST00000629878A0A0D9SG23
ENSG00000204406ENST00000630352A0A0D9SEP6
ENSG00000204406ENST00000637159A0A1B0GUJ9
ENSG00000204406ENST00000638043A0A1B0GW10
ENSG00000204406ENST00000642680A0A1B0GW10

Expression (GTEx)

0
1
2
3
4
5
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

References

Pubmed IDYearTitleCitations
353859422022[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].0
363964312022Germline mosaicism in a family with MBD5 haploinsufficiency.0
353859422022[Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].0
363964312022Germline mosaicism in a family with MBD5 haploinsufficiency.0
334274062021MBD5-related intellectual disability in a Vietnamese child.1
335103652021Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.5
344594042021Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.1
334274062021MBD5-related intellectual disability in a Vietnamese child.1
335103652021Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.5
344594042021Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.1
282952102017Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.26
288077622017Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.4
282952102017Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.26
288077622017Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.4
252710842015MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.16

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-(methyl-cpg-binding-domain-protein-5)