DIP2A

Disco-interacting protein 2 homolog A is a protein that in humans is encoded by the DIP2A gene.[5]

DIP2A
Identifiers
Aliases	DIP2A, C21orf106, DIP2, disco interacting protein 2 homolog A
External IDs	OMIM: 607711 MGI: 2385920 HomoloGene: 41012 GeneCards: DIP2A
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 46,458,891 bp[1] End 46,570,015 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 38.76 cM Start 76,259,429 bp[2] End 76,345,291 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • catalytic activity • GO:0001948 protein binding Cellular component • cell nucleus • cell surface Biological process • multicellular organism development • negative regulation of gene expression • metabolism • regulation of apoptotic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23181	64451
Ensembl	ENSG00000160305	ENSMUSG00000020231
UniProt	Q14689	Q8BWT5
RefSeq (mRNA)	NM_001146114 NM_001146115 NM_001146116 NM_015151 NM_206889 NM_206890 NM_206891 NM_001353942 NM_001353943 NM_001353944	NM_001081419
RefSeq (protein)	NP_001139587 NP_001139588 NP_055966 NP_996772 NP_996773 NP_996774 NP_001340871 NP_001340872 NP_001340873	NP_001074888
Location (UCSC)	Chr 21: 46.46 – 46.57 Mb	Chr 10: 76.26 – 76.35 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Model organisms have been used in the study of DIP2A function. A conditional knockout mouse line called Dip2a^{tm2b(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

Dip2a knockout mouse phenotype

Characteristic	Phenotype
All data available at.[7][12]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Abnormal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Anti-nuclear Antibody Assay	Normal
Epidermal Immune Composition	Normal
Influenza Challenge	Normal

.

References

1. GRCh38: Ensembl release 89: ENSG00000160305 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020231 - 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. "Entrez Gene: DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila)".
6. 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.
7. "International Mouse Phenotyping Consortium".
8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
9. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
10. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
11. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
12. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

• Nagase T, Seki N, Ishikawa K, et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
• Yu G, Zerucha T, Ekker M, Rubenstein JL (2002). "Evidence that GRIP, a PDZ-domain protein which is expressed in the embryonic forebrain, co-activates transcription with DLX homeodomain proteins". Brain Res. Dev. Brain Res. 130 (2): 217–30. doi:10.1016/S0165-3806(01)00239-5. PMID 11675124.
• Wang Z, Tseng CP, Pong RC, et al. (2002). "The mechanism of growth-inhibitory effect of DOC-2/DAB2 in prostate cancer. Characterization of a novel GTPase-activating protein associated with N-terminal domain of DOC-2/DAB2". J. Biol. Chem. 277 (15): 12622–31. doi:10.1074/jbc.M110568200. PMID 11812785.
• Gardiner K, Slavov D, Bechtel L, Davisson M (2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis". Genomics. 79 (6): 833–43. doi:10.1006/geno.2002.6782. PMID 12036298.
• Mukhopadhyay M, Pelka P, DeSousa D, et al. (2002). "Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog". Gene. 293 (1–2): 59–65. doi:10.1016/S0378-1119(02)00694-7. PMID 12137943.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Casadei R, Strippoli P, D'Addabbo P, et al. (2004). "mRNA 5' region sequence incompleteness: a potential source of systematic errors in translation initiation codon assignment in human mRNAs". Gene. 321: 185–93. doi:10.1016/S0378-1119(03)00835-7. PMID 14637006.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Winnepenninckx B, Debacker K, Ramsay J, et al. (2007). "CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1". Am. J. Hum. Genet. 80 (2): 221–31. doi:10.1086/510800. PMC 1785358. PMID 17236128.