MBD3L2B methyl-CpG binding domain protein 3 like 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBD3L2Bprovided by HGNC
Official Full Name: methyl-CpG binding domain protein 3 like 2Bprovided by HGNC
Primary source: HGNC:HGNC:53435
See related: Ensembl:ENSG00000196589 AllianceGenome:HGNC:53435
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

Location:: 19p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7018969..7021431, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7009267..7011729, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7018980..7021442, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables methyl-CpG binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA methylation-dependent heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: methyl-CpG-binding domain protein 3-like 2B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001364674.2 → NP_001351603.1 methyl-CpG-binding domain protein 3-like 2B

Status: VALIDATED

Source sequence(s)

AC010606, AC025278

Consensus CDS

CCDS92501.1

UniProtKB/Swiss-Prot

A0A1B0GVZ6

Related

ENSP00000489619.1, ENST00000636986.2

Conserved Domains (2) summary

pfam14048
Location:103 → 193

MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3

cl00110
Location:48 → 97

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...