Official symbol | DNMT3B |
Gene id | 1789 |
Organism | Homo sapiens |
Official full symbol | DNA methyltransferase 3 beta |
Gene type | protein-coding |
Also known as | ICF, ICF1, M.HsaIIIB |
Summary | CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. |
Genomic regions | Chromosome 20 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
DNMT3B-202 | ENST00000328111.6 | 4336 | 853aa | Protein coding | CCDS13205 | Q9UBC3-1 | NM_006892.4 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
DNMT3B-201 | ENST00000201963.3 | 4255 | 845aa | Protein coding | CCDS13204 | Q9UBC3-6 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
DNMT3B-204 | ENST00000353855.6 | 4237 | 833aa | Protein coding | CCDS13206 | Q9UBC3-2 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
DNMT3B-203 | ENST00000348286.6 | 4048 | 770aa | Protein coding | CCDS13207 | Q9UBC3-3 | - | TSL:1, GENCODE basic, |
DNMT3B-205 | ENST00000443239.7 | 2674 | 728aa | Protein coding | CCDS56183 | Q9UBC3-8 | - | TSL:2, GENCODE basic, |
DNMT3B-206 | ENST00000456297.6 | 2315 | 694aa | Protein coding | CCDS56184 | Q9UBC3-7 | - | TSL:2, GENCODE basic, |
Target Gene | DNMT3B |
This KO Strategy | loading |
Red Cotton™ Notes | Gene DNMT3B had been KO in hela cell line. |
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