RPAP2

RPAP2
Identifiers
Aliases	RPAP2 , C1orf82, Rtr1, RNA polymerase II associated protein 2
External IDs	OMIM: 611476 MGI: 2141142 HomoloGene: 11733 GeneCards: RPAP2
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p22.1 Start 92,299,059 bp [1] End 92,402,056 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 F Start 107,745,239 bp [2] End 107,809,704 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon cerebellar vermis corpus callosum pons thymus superior vestibular nucleus islet of Langerhans subthalamic nucleus inferior ganglion of vagus nerve gastrocnemius muscle Top expressed in secondary oocyte spermatocyte seminiferous tubule spermatid facial motor nucleus arcuate nucleus paraventricular nucleus of hypothalamus maxillary prominence proximal tubule dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function phosphoprotein phosphatase activity metal ion binding hydrolase activity RNA polymerase II CTD heptapeptide repeat phosphatase activity protein serine/threonine phosphatase activity protein binding RNA polymerase core enzyme binding Cellular component nucleolus RNA polymerase II, holoenzyme cytoplasm nucleus nucleoplasm cytosol Biological process snRNA transcription transcription, DNA-templated dephosphorylation of RNA polymerase II C-terminal domain regulation of transcription, DNA-templated snRNA transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79871 231571 Ensembl ENSG00000122484 ENSMUSG00000033773 UniProt Q8IXW5 Q8VC34 RefSeq (mRNA) NM_024813 NM_001163461 NM_001163462 NM_001289569 NM_001289570 NM_144911 NM_001359916 NM_001359917 NM_001359918 RefSeq (protein) NP_079089 NP_001156933 NP_001156934 NP_001276498 NP_001276499 NP_659160 NP_001346845 NP_001346846 NP_001346847 Location (UCSC) Chr 1: 92.3 – 92.4 Mb Chr 5: 107.75 – 107.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

RNA polymerase II associated protein 2, also known as RPAP2, is a human gene. ^[5]

Model organisms

Rpap2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal [6]
Citrobacter infection	Normal [7]
All tests and analysis from [8] [9]

Model organisms have been used in the study of RPAP2 function. A conditional knockout mouse line, called Rpap2^{tm1a(KOMP)Wtsi [10] [11]} 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. ^{[12] [13] [14]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[8] [15]} Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. ^[8] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000122484 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033773 - 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: RNA polymerase II associated protein 2" . Retrieved 2011-08-30.
6. "Salmonella infection data for Rpap2". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Rpap2". Wellcome Trust Sanger Institute.
8. 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. S2CID   85911512.
9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
10. "International Knockout Mouse Consortium".
11. "Mouse Genome Informatics".
12. 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.
13. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
14. 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. S2CID   18872015.
15. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Jeronimo C, Forget D, Bouchard A, Li Q, Chua G, Poitras C, Thérien C, Bergeron D, Bourassa S, Greenblatt J, Chabot B, Poirier GG, Hughes TR, Blanchette M, Price DH, Coulombe B (Jul 2007). "Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme". Molecular Cell. 27 (2): 262–74. doi:10.1016/j.molcel.2007.06.027. PMC   4498903 . PMID   17643375.
• Ingham RJ, Colwill K, Howard C, Dettwiler S, Lim CS, Yu J, Hersi K, Raaijmakers J, Gish G, Mbamalu G, Taylor L, Yeung B, Vassilovski G, Amin M, Chen F, Matskova L, Winberg G, Ernberg I, Linding R, O'donnell P, Starostine A, Keller W, Metalnikov P, Stark C, Pawson T (Aug 2005). "WW domains provide a platform for the assembly of multiprotein networks". Molecular and Cellular Biology. 25 (16): 7092–106. doi:10.1128/MCB.25.16.7092-7106.2005. PMC   1190255 . PMID   16055720.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Sowa ME, Bennett EJ, Gygi SP, Harper JW (Jul 2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC   2716422 . PMID   19615732.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.