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Tbio
MBD5
Methyl-CpG-binding domain protein 5

Protein Summary
Description
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000407073
  • ENSP00000386049
  • ENSG00000204406
  • ENST00000627651
  • ENSP00000486370

Symbol
  • KIAA1461
  • MRD1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.83
hub protein
0.82
trait
0.75
tissue sample
0.66
transcription factor binding site profile
0.65


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 40.1   (req: < 5)
Gene RIFs: 15   (req: <= 3)
Antibodies: 102   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 40.1   (req: >= 5)
Gene RIFs: 15   (req: > 3)
Antibodies: 102   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Protein-Protein Interactions (74)
1 – 10 of 74
ASXL2
Tbio
Family:  Epigenetic
Novelty:  0.04277784
p_int:  0.999999997
p_ni:  3e-9
Score:  0.953
Data Source:  BioPlex,STRINGDB
BAP1
Tbio
Family:  Enzyme
Novelty:  0.00501435
p_int:  0.999999836
p_ni:  1.5e-8
p_wrong:  1.5e-7
Score:  0.933
Data Source:  BioPlex,STRINGDB
HMGCS1
Tchem
Family:  Enzyme
Novelty:  0.01089288
p_int:  0.998370519
p_ni:  0.001629472
p_wrong:  9e-9
Score:  0.169
Data Source:  BioPlex,STRINGDB
LZIC
Tdark
Novelty:  0.34151594
p_int:  0.982775562
p_ni:  0.005903265
p_wrong:  0.011321172
Score:  0.189
Data Source:  BioPlex,STRINGDB
SNX3
Tbio
Novelty:  0.02703152
p_int:  0.968106343
p_ni:  0.02029123
p_wrong:  0.011602427
Data Source:  BioPlex
NME2P1
Tdark
Family:  Kinase
p_int:  0.967035386
p_ni:  0.032855731
p_wrong:  0.000108883
Data Source:  BioPlex
UBE2T
Tbio
Novelty:  0.02718799
p_int:  0.951274419
p_ni:  0.048525339
p_wrong:  0.000200242
Score:  0.168
Data Source:  BioPlex,STRINGDB
HDGFL2
Tbio
Family:  Epigenetic
Novelty:  0.11846257
p_int:  0.870992857
p_ni:  0.128473642
p_wrong:  0.000533501
Score:  0.314
Data Source:  BioPlex,STRINGDB
UBE2E1
Tbio
Novelty:  0.04048768
p_int:  0.868623046
p_ni:  0.131326151
p_wrong:  0.000050804
Score:  0.539
Data Source:  BioPlex,STRINGDB
BID
Tbio
Novelty:  0.01264688
p_int:  0.805218732
p_ni:  0.080354123
p_wrong:  0.114427145
Score:  0.193
Data Source:  BioPlex,STRINGDB
Pathways (4)
Deubiquitination (R-HSA-5688426)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Deubiquitination
Reactome
Metabolism of proteins
Reactome
Post-translational protein modification
Reactome
UCH proteinases
Name
Explore in Pharos
Explore in Source
Deubiquitination
Metabolism of proteins
Post-translational protein modification
UCH proteinases
Gene Ontology Terms (12)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
GWAS Traits (19)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
neuroticism measurement
4
8
2
6.2
82.2
glomerular filtration rate
2
2
2
78.2
monocyte count
1
1
1
75.7
basophil count
1
1
1
71.9
eosinophil count
2
2
2
68.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
neuroticism measurement
2
6.2
82.2
glomerular filtration rate
2
78.2
monocyte count
1
75.7
basophil count
1
71.9
eosinophil count
2
68.1
Find similar targets by:
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
methyl-CpG binding domain protein 5
VGNC:14312
470553
Macaque
methyl-CpG binding domain protein 5
721892
Mouse
MGI:2138934
109241
Rat
RGD:1562961
311026
Dog
methyl-CpG binding domain protein 5
VGNC:43053
483910
Species
Name
OMA
EggNOG
Inparanoid
Chimp
methyl-CpG binding domain protein 5
Macaque
methyl-CpG binding domain protein 5
Mouse
Rat
Dog
methyl-CpG binding domain protein 5
Publication Statistics
PubMed Score 40.10
PubMed score by year
PubTator Score 122.59
PubTator score by year