DIP2B

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

Description

Disco interacting protein 2 homolog B

Tissue specificity

Tissue enhanced (brain)

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (50504985 - 50748657)

Ensembl ID

ENSG00000066084  (ver. 103.38)

Orthologs

Mouse Dip2b: ENSMUSG00000023026

UniProt

Q9P265

neXtProt

NX_Q9P265

Human splice variants
Mouse splice variants

Protein structure