DIP2B - disco interacting protein 2 homolog B Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57609

About DIP2B

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,504,985-50,748,657 (from NCBI)

This gene has 5 transcripts (splice variants), 277 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 13.6), skin (RPKM 9.4) and 25 other tissues.

Summary

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]

DIP2B Products (1)

mRNA	Protein	Name
NM_173602.3	NP_775873.2	disco-interacting protein 2 homolog B

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15531550	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15531550	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DIP2B Protein Structure

DMAP_binding

AMP-binding

0
300
600
900
1200
1500
1576 a.a.

Protein Preferred Names	Protein Names
disco-interacting protein 2 homolog B	DIP2 disco-interacting protein 2 homolog B

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Fra12a Type	Mental Retardation, Fra12a Type Intellectual Developmental Disorder, Autosomal Dominant, Fra12a Type IDDFR12A
Middle Cerebral Artery Infarction	Infarction, Middle Cerebral Artery Infarction Middle Cerebral Artery
46,Xx Sex Reversal 3	SRXX3 Chromosome Xq26 Duplication Syndrome 46,Xx Sex Reversal, Sox3-Related 46xx Sex Reversal 3 46,Xx Male Sex Reversal Sox3-Related
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03773	DIP2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DIP2B	RGD	RGD:1305671
Mus musculus	DIP2B	MGD	MGI:2145977
Macaca mulatta	DIP2B	VGNC	VGNC:71813
Felis catus	DIP2B	VGNC	VGNC:61493
Canis familiaris	DIP2B	VGNC	VGNC:39959
Bos taurus	DIP2B	VGNC	VGNC:28067