• Gene id: 55777

Gene Summary

• Gene Symbol: MBD5   Gene   UCSC   Ensembl
• Aliases: MRD1
• Gene name: methyl-CpG binding domain protein 5
• Alternate names: methyl-CpG-binding domain protein 5, methyl-CpG-binding protein MBD5,
• Gene location: 2q23.1 (148021010: 148516970)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 611472

Protein Summary

• Protein general information: Q9P267  
  • Name: Methyl CpG binding domain protein 5 (Methyl CpG binding protein MBD5)
  • Length: 1494  
  • Mass: 159895
  • Tissue specificity: Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MNGGKECDGGDKEGGLPAIQVPVGWQRRVDQNGVLYVSPSGSLLSCLEQVKTYLLTDGTCKCGLECPLILPKVFN
  FDPGAAVKQRTAEDVKADEDVTKLCIHKRKIIAVATLHKSMEAPHPSLVLTSPGGGTNATPVVPSRAATPRSVRN
  KSHEGITNSVMPECKNPFKLMIGSSNAMGRLYVQELPGSQQQELHPVYPRQRLGSSEHGQKSPFRGSHGGLPSPA
  SSGSQIYGDGSISPRTDPLGSPDVFTRSNPGFHGAPNSSPIHLNRTPLSPPSVMLHGSPVQSSCAMAGRTNIPLS
  PTLTTKSPVMKKPMCNFSTNMEIPRAMFHHKPPQGPPPPPPPSCALQKKPLTSEKDPLGILDPIPSKPVNQNPVI
  INPTSFHSNVHSQVPMMNVSMPPAVVPLPSNLPLPTVKPGHMNHGSHVQRVQHSASTSLSPSPVTSPVHMMGTGI
  GRIEASPQRSRSSSTSSDHGNFMMPPVGPQATSSGIKVPPRSPRSTIGSPRPSMPSSPSTKSDGHHQYKDIPNPL
  IAGISNVLNTPSSAAFPTASAGSSSVKSQPGLLGMPLNQILNQHNAASFPASSLLSAAAKAQLANQNKLAGNNSS
  SSSNSGAVAGSGNTEGHSTLNTMFPPTANMLLPTGEGQSGRAALRDKLMSQQKDALRKRKQPPTTVLSLLRQSQM
  DSSAVPKPGPDLLRKQGQGSFPISSMSQLLQSMSCQSSHLSSNSTPGCGASNTALPCSANQLHFTDPSMNSSVLQ
  NIPLRGEAVHCHNANTNFVHSNSPVPNHHLAGLINQIQASGNCGMLSQSGMALGNSLHPNPPQSRISTSSTPVIP
  NSIVSSYNQTSSEAGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHF
  PSNSTSNNHLPHPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQM
  FPPNQQQQQLLQGYQNLQAFQGQSTIPCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLP
  PFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKAVVDAASKGMQVVITTAVNSTTQISPIPALSAMSA
  FTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDGFEYFKSASCHTSKKQWDGE
  QSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKRTMMS
  FKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVP
  SPSDAKSISSEDDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPE
  KLKTLTEGLEAYSRVRKRNRKSGKLNNHLEAAIHEAMSELDKMSGTVHQIPQGDRQMRPPKPKRRKISR

• Structural information:
  • Protein Domains: (11..8-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338-)
    (1385..144-)
    (/note="PWWP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162"-)
  • Interpro: IPR016177  IPR037385  IPR001739  IPR000313  
  • Prosite: PS50982 PS50812
  • STRING: ENSP00000386049
• Other Databases: GeneCards:  MBD5  Malacards:  MBD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0010369	chromocenter	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003677	DNA binding	IDA	NOT|molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0010369	chromocenter	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0060399	positive regulation of growth hormone receptor signaling pathway	ISS	biological process
GO:0007399	nervous system development	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050795	regulation of behavior	IMP	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0040014	regulation of multicellular organism growth	ISS	biological process

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Autism spectrum disorder	PMID:23055267
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq