Details for: MBD4
Associated with
Other Information
Genular Protein ID: 2002849590
Symbol: MBD4_HUMAN
Name: Methyl-CpG-binding domain protein 4
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9774669
Title: Identification and characterization of a family of mammalian methyl-CpG binding proteins.
PubMed ID: 9774669
PubMed ID: 10441743
Title: Genomic structure and chromosomal mapping of the murine and human mbd1, mbd2, mbd3, and mbd4 genes.
PubMed ID: 10441743
PubMed ID: 10097147
Title: MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.
PubMed ID: 10097147
PubMed ID: 17143486
Title: The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase.
PubMed ID: 17143486
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10930409
Title: Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase.
PubMed ID: 10930409
PubMed ID: 12702765
Title: Fas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosis.
PubMed ID: 12702765
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 30049810
Title: MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.
PubMed ID: 30049810
PubMed ID: 30714079
Title: Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.
PubMed ID: 30714079
PubMed ID: 31147739
PubMed ID: 31322271
Title: A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early-onset cancer: A case report.
PubMed ID: 31322271
DOI: 10.3892/or.2019.7239
PubMed ID: 32239153
Title: Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
PubMed ID: 32239153
DOI: 10.1093/jnci/djaa047
PubMed ID: 35460607
Title: Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
PubMed ID: 35460607
Sequence Information:
- Length: 580
- Mass: 66051
- Checksum: BF16FB21A34B8E5F
- Sequence:
MGTTGLESLS LGDRGAAPTV TSSERLVPDP PNDLRKEDVA MELERVGEDE EQMMIKRSSE CNPLLQEPIA SAQFGATAGT ECRKSVPCGW ERVVKQRLFG KTAGRFDVYF ISPQGLKFRS KSSLANYLHK NGETSLKPED FDFTVLSKRG IKSRYKDCSM AALTSHLQNQ SNNSNWNLRT RSKCKKDVFM PPSSSSELQE SRGLSNFTST HLLLKEDEGV DDVNFRKVRK PKGKVTILKG IPIKKTKKGC RKSCSGFVQS DSKRESVCNK ADAESEPVAQ KSQLDRTVCI SDAGACGETL SVTSEENSLV KKKERSLSSG SNFCSEQKTS GIINKFCSAK DSEHNEKYED TFLESEEIGT KVEVVERKEH LHTDILKRGS EMDNNCSPTR KDFTGEKIFQ EDTIPRTQIE RRKTSLYFSS KYNKEALSPP RRKAFKKWTP PRSPFNLVQE TLFHDPWKLL IATIFLNRTS GKMAIPVLWK FLEKYPSAEV ARTADWRDVS ELLKPLGLYD LRAKTIVKFS DEYLTKQWKY PIELHGIGKY GNDSYRIFCV NEWKQVHPED HKLNKYHDWL WENHEKLSLS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.