methyl-CpG binding domain 4, DNA glycosylase

Summary
Gene Symbol
  • MBD4
Aliases
  • MED1
Organism
Homo sapiens (human)
External Links
NCBI Gene
8930
HGNC
6919
PubChem
8930
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • DNA repair
  • DNA-binding
  • Disease variant
  • Hydrolase
  • Nucleus
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
O95243
  • Methyl-CpG-binding endonuclease 1
  • Methyl-CpG-binding protein MBD4
  • Mismatch-specific DNA N-glycosylase
Gene Ontology (GO)
Displaying all 3 entries
GO Term Evidence Code PMID
depyrimidination
DNA repair
response to estradiol
GO Hierarchy
Human Protein Atlas
ENSG00000129071

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 71 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0080195 Marinesco-Sjogren syndrome
DOID:0080199 colorectal carcinoma
DOID:1019 osteomyelitis
DOID:10534 stomach cancer
DOID:11054 urinary bladder cancer
DOID:11266 Hantavirus hemorrhagic fever with renal syndrome
DOID:11661 blue color blindness
DOID:12849 autistic disorder
DOID:1324 lung cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0002858 Meningioma
HP:0003003 Colon cancer
HP:0003581 Adult onset
HP:0003596 Middle age onset
HP:0003621 Juvenile onset
HP:0004808 Acute myeloid leukemia
HP:0005227 Adenomatous colonic polyposis
HP:0007716 Uveal melanoma
HP:0011462 Young adult onset
Displaying all 2 entries
Disease ID Disease Name
OMIM:619975
  • tumor predisposition syndrome 2
OMIM:606660
  • melanoma, uveal, susceptibility to, 1
ChIP-Atlas
Target Genes
Predicted target genes bound by given transcription factors. Target Genes
Potential target genes for MBD4
Distance from TSS: ± 10 kb
Displaying entries 101 - 110 of 148 in total
Gene Symbol Description Cellline (score)
phosphatidylinositol glycan anchor biosynthesis class P
  • Hep_G2(181)
phosphatidylinositol glycan anchor biosynthesis class U
  • Hep_G2(109)
arylsulfatase family member K
  • Hep_G2(114)
glucose-6-phosphatase catalytic subunit 3
  • Hep_G2(95)
acylphosphatase 2
  • Hep_G2(109)
phosphatidylinositol glycan anchor biosynthesis class S
  • Hep_G2(78)
arylsulfatase G
  • Hep_G2(179)
ectonucleotide pyrophosphatase/phosphodiesterase 3
  • Hep_G2(426)
cathepsin A
  • Hep_G2(223)
FIG4 phosphoinositide 5-phosphatase
  • Hep_G2(76)
Colocalization
Predicted partner proteins colocalizing with given transcription factors. Colocalization
Colocalization analysis for MBD4
Displaying 1 entry
Gene Symbol Description Cellline (score)
methyl-CpG binding domain 4, DNA glycosylase
  • Hep_G2(10)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024