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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q23.1
Chromosome location (bp)
148021011 - 148516971
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro)....show less
Gene summary (Entrez)i
Useful information about the gene from 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 protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q9P267 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level
H7C066 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
Q9P267 [Direct mapping] Methyl-CpG-binding domain protein 5
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level
A0A0D9SEP6 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A1B0GUJ9 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A1B0GW10 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8YDL9 [Direct mapping] Methyl-CpG-binding domain protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
The Human Protein Atlas project is funded
