DIP2B - disco interacting protein 2 homolog B Gene

Homo sapiens

Gene ID: 57609 | Gene type: protein coding

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	Reference	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
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

Bioactive Molecules (1)

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

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