1. Gene
  2. MBD4 - methyl-CpG binding domain 4, DNA glycosylase Gene

MBD4 - methyl-CpG binding domain 4, DNA glycosylase Gene

Homo sapiens

Also known as MED1; TPDS2

Gene ID: 8930 | Gene type: protein coding

About MBD4

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:129,430,947-129,439,948 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 27.7), spleen (RPKM 17.6) and 25 other tissues.

Summary

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

MBD4 Products(5)

mRNA Protein Name
NM_001276270.2 NP_001263199.1 methyl-CpG-binding domain protein 4 isoform 2
NM_001276271.2 NP_001263200.1 methyl-CpG-binding domain protein 4 isoform 3
NM_001276272.2 NP_001263201.1 methyl-CpG-binding domain protein 4 isoform 4
NM_001276273.2 NP_001263202.1 methyl-CpG-binding domain protein 4 isoform 5
NM_003925.3 NP_003916.1 methyl-CpG-binding domain protein 4 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12702765 GOA
enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity IDA
IDA: Inferred from direct assay
14614141 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBD4 Protein Structure

MBD

MBD: Methyl-CpG binding domain (80 - 149)

HhH-GPD

HhH-GPD: HhH-GPD superfamily base excision DNA repair protein (461 - 535)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 580 a.a.
Protein Preferred Names Protein Names

methyl-CpG-binding domain protein 4

3,N(4)-ethenocytosine glycosylase

MBD4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra MBD4 O95243 FADD Homo sapiens Q13158
Pull Down
12702765
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Tumor Predisposition Syndrome 2

TPDS2

Mbd4-Associated Neoplasia Syndrome

Mans

Man

Melanoma, Uveal 1

Melanoma, Uveal, Susceptibility To, 1

UVM1

Uveal Melanoma, Susceptibility To, 1

Uveal Melanoma 1

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement

MPD4

Williams Distal Myopathy

Distal Muscular Dystrophy 4

Distal Abd-Filaminopathy

Distal Myopathy 4

Myopathy, Distal, Type 4

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MBD4 VGNC VGNC:31276
Mus musculus MBD4 MGD MGI:1333850
Macaca mulatta MBD4 VGNC VGNC:74671
Canis familiaris MBD4 VGNC VGNC:43052
Rattus norvegicus MBD4 RGD RGD:1585874
Felis catus MBD4 VGNC VGNC:68200