MBD4
entrez
8930
canonical
uniprot
O95243
canonical
ensembl
ENSG00000129071
resolver
ensp
ENSP00000249910
resolver
ensp
ENSP00000376959
resolver
ensp
ENSP00000394080
resolver
ensp
ENSP00000422327
resolver
ensp
ENSP00000424873
resolver
ensp
ENSP00000651926
resolver
genesymbol
MBD4
resolver
genesymbol_syn
MED1
resolver
hgnc
HGNC:6919
resolver
uniprot
B4DZN2
resolver
uniprot
D3DNC3
resolver
uniprot
D3DNC4
resolver
uniprot
E9PEE4
resolver
uniprot
Q2MD36
resolver
uniprot
Q7Z4T3
resolver
uniprot
Q96F09
resolver
uniprot_entry
MBD4_HUMAN
resolver
uniprot_sec
B4DZN2
resolver
uniprot_sec
D3DNC3
resolver
uniprot_sec
D3DNC4
resolver
uniprot_sec
E9PEE4
resolver
uniprot_sec
Q2MD36
resolver
uniprot_sec
Q7Z4T3
resolver
uniprot_sec
Q96F09
resolver
amino_acid_sequence
MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPLLQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYLHKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPPSSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSGFVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSGSNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDNNCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS
uniprot
proteins
disease_involvement
DISEASE: Tumor predisposition syndrome 2 (TPDS2) [MIM:619975]: An autosomal recessive condition characterized by predisposition to develop a variety of tumors or malignancies, including acute myeloid leukemia, myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma. {ECO:0000269|PubMed:30049810, ECO:0000269|PubMed:31322271, ECO:0000269|PubMed:35460607}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Melanoma, uveal, 1 (UVM1) [MIM:606660]: Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis. {ECO:0000269|PubMed:30714079, ECO:0000269|PubMed:32239153}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.2.-
uniprot
proteins
function
FUNCTION: Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. {ECO:0000269|PubMed:10097147, ECO:0000269|PubMed:10930409}.
uniprot
proteins
mass_dalton
66051
uniprot
proteins
mutagenesis
MUTAGEN 560; /note="D->A: Loss of DNAN-glycosylase activity."; /evidence="ECO:0000269|PubMed:30049810
uniprot
proteins
pubmed
10097147
uniprot
proteins
pubmed
10441743
uniprot
proteins
pubmed
10930409
uniprot
proteins
pubmed
12702765
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17143486
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30049810
uniprot
proteins
pubmed
30714079
uniprot
proteins
pubmed
31147739
uniprot
proteins
pubmed
31322271
uniprot
proteins
pubmed
32239153
uniprot
proteins
pubmed
35460607
uniprot
proteins
pubmed
9774669
uniprot
proteins
sequence_length
580
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins