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

Also Known as MED1; TPDS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8930

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 Referencias 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 Referencias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS08184 MBD4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19616 Mbd4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26111 Mbd4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others MBD4 NCBI