MBD3L2 (methyl-CpG binding domain protein 3 like 2)

Gene

• Entrez ID: 125997
• Gene name: Methyl-CpG binding domain protein 3 like 2
• Gene symbol: MBD3L2
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1135029	hsa-miR-2110	CLIP-seq
MIRT1135030	hsa-miR-3202	CLIP-seq
MIRT1135031	hsa-miR-4271	CLIP-seq
MIRT1135032	hsa-miR-4456	CLIP-seq
MIRT1135033	hsa-miR-4668-5p	CLIP-seq
MIRT1135034	hsa-miR-4725-3p	CLIP-seq
MIRT1135035	hsa-miR-4747-5p	CLIP-seq
MIRT1135036	hsa-miR-491-5p	CLIP-seq
MIRT1135037	hsa-miR-541	CLIP-seq
MIRT1135038	hsa-miR-548t	CLIP-seq
MIRT1135039	hsa-miR-582-3p	CLIP-seq
MIRT1135040	hsa-miR-595	CLIP-seq
MIRT1135041	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15701600
GO:0005634	Component	Nucleus	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	15701600
GO:0008327	Function	Methyl-CpG binding	IBA
GO:1902275	Process	Regulation of chromatin organization	IDA	15701600

Other IDs

• MIM: 607964
• HGNC: 18532
• e!Ensembl: ENSG00000230522

Protein

• UniProt ID: Q8NHZ7
• Protein name: Methyl-CpG-binding domain protein 3-like 2 (MBD3-like protein 2)
• Protein function: May displace the NuRD complex from chromatin.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16564	MBDa	28 → 98	p55-binding region of Methyl-CpG-binding domain proteins MBD	Domain
  PF14048	MBD_C	102 → 193	C-terminal domain of methyl-CpG binding protein 2 and 3	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected at low levels in several somatic tissues (PubMed:12504854, PubMed:15701600). Highly expressed in the ovarian teratocarcinoma cell line PA-1 (PubMed:12504854). {ECO:0000269|PubMed:12504854, ECO:0000269|PubMed:15701600}.
• Sequence:

  MGEPAFTSFPSLPVLGKLKRNMMPWALQKKREIHMAKAHRRRAARSALPMRLTSCIFRRP
  VTRIRSHPDNQVRRRKGDEHLEKPQQLCAYRRLQALQPCSSQGEGSSPLHLESVLSILAP
  GTAGESLDRAGAERVRSPLEPTPGRFPAVAGGPTPGMGCQLPPPLSGQLVTPADIRRQAR
  RVKKARERLAKALQADRLARRAEMLTGG

• Sequence length: 208

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19931263	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations