DIP2B

DIP2 disco-interacting protein 2 homolog B (Drosophila) is a protein that in humans is encoded by the DIP2B gene.[5] A member of the disco-interacting protein homolog 2 protein family, it 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 DIP2B may participate in DNA methylation. This gene is located near a folate-sensitive fragile site.[5][6]

DIP2B
Identifiers
AliasesDIP2B, disco interacting protein 2 homolog B
External IDsOMIM: 611379 MGI: 2145977 HomoloGene: 72227 GeneCards: DIP2B
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q13.12Start50,504,985 bp[1]
End50,748,657 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

57609

239667

Ensembl

ENSG00000066084

ENSMUSG00000023026

UniProt

Q9P265

Q3UH60

RefSeq (mRNA)

NM_020849
NM_173602

NM_001159361
NM_172819

RefSeq (protein)

NP_775873

NP_001152833
NP_766407

Location (UCSC)Chr 12: 50.5 – 50.75 MbChr 15: 100.04 – 100.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

Model organisms have been used in the study of DIP2B function. A conditional knockout mouse line, called Dip2btm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[10] Few homozygous mutant mice survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; abnormal fertility and decreased mean corpuscular haemoglobin levels were observed in these animals.[10]

References
  1. GRCh38: Ensembl release 89: ENSG00000066084 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000023026 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "DIP2 disco-interacting protein 2 homolog B (Drosophila)". Retrieved 2011-12-05.
  6. Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.; Smits, A.; Fitzpatrick, D. R.; Kooy, R. F. (2007). "CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1". The American Journal of Human Genetics. 80 (2): 221–231. doi:10.1086/510800. PMC 1785358. PMID 17236128.
  7. "Haematology data for Dip2b". Wellcome Trust Sanger Institute.
  8. "Salmonella infection data for Dip2b". Wellcome Trust Sanger Institute.
  9. "Citrobacter infection data for Dip2b". Wellcome Trust Sanger Institute.
  10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. "International Knockout Mouse Consortium".
  13. "Mouse Genome Informatics".
  14. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading


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