Human Gene MBD3L2 (ENST00000381393.3_5) from GENCODE V48lift37
  Description: methyl-CpG binding domain protein 3 like 2 (from RefSeq NM_144614.4)
Gencode Transcript: ENST00000381393.3_5
Gencode Gene: ENSG00000230522.5_6
Transcript (Including UTRs)
   Position: hg19 chr19:7,049,332-7,051,746 Size: 2,415 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr19:7,049,385-7,051,633 Size: 2,249 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2025-04-10 15:10:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:7,049,332-7,051,746)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MB3L2_HUMAN
DESCRIPTION: RecName: Full=Methyl-CpG-binding domain protein 3-like 2; Short=MBD3-like protein 2;
TISSUE SPECIFICITY: Detected at low levels in several somatic tissues. Highly expressed in the ovarian teratocarcinoma cell line PA-1.
MISCELLANEOUS: The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.
SIMILARITY: Belongs to the MBD3L family.
SEQUENCE CAUTION: Sequence=AAM28154.2; Type=Frameshift; Positions=204;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.00 RPKM in (null)
Total median expression: 0.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.7053-0.315 Picture PostScript Text
3' UTR -12.00113-0.106 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025884 - MeCpG-bd_2/3_C_dom

Pfam Domains:
PF14048 - C-terminal domain of methyl-CpG binding protein 2 and 3
PF16564 - p55-binding region of Methyl-CpG-binding domain proteins MBD

ModBase Predicted Comparative 3D Structure on Q8NHZ7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008327 methyl-CpG binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006346 methylation-dependent chromatin silencing

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AF503919 - Homo sapiens methyl-CpG binding domain protein 3-like protein 2 (MBD3L2) mRNA, complete cds.
JD371178 - Sequence 352202 from Patent EP1572962.
BC172325 - Synthetic construct Homo sapiens clone IMAGE:100069019, MGC:199030 methyl-CpG binding domain protein 3-like 2 (MBD3L2) mRNA, encodes complete protein.
JD202120 - Sequence 183144 from Patent EP1572962.
JD289350 - Sequence 270374 from Patent EP1572962.
JD132076 - Sequence 113100 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000381393.1, ENST00000381393.2, MB3L2_HUMAN, NM_144614, Q8NHZ7, uc318qfr.1, uc318qfr.2
UCSC ID: ENST00000381393.3_5
RefSeq Accession: NM_144614.4
Protein: Q8NHZ7 (aka MB3L2_HUMAN or MBL2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.