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]
End	92,402,056 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	107,809,704 bp[2]
RNA expression pattern
	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
	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
	79871
	231571
	ENSG00000122484
	ENSMUSG00000033773
	Q8IXW5
	Q8VC34
	NM_024813
NM_001163461; NM_001163462; NM_001289569; NM_001289570; NM_144911;
	NM_001359916; NM_001359917; NM_001359918
	NP_079089
NP_001156933; NP_001156934; NP_001276498; NP_001276499; NP_659160;
	NP_001346845; NP_001346846; NP_001346847
	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

GRCh38: Ensembl release 89: ENSG00000122484 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000033773 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: RNA polymerase II associated protein 2". Retrieved 2011-08-30.
"Salmonella infection data for Rpap2". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Rpap2". Wellcome Trust Sanger Institute.
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.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
"Mouse Genome Informatics".
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.
Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000122484 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: RNA polymerase II associated protein 2". Retrieved 2011-08-30.

[''Salmonella''_infection-6] "Salmonella infection data for Rpap2". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-7] "Citrobacter infection data for Rpap2". Wellcome Trust Sanger Institute.

[mgp_reference-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.

[allele_ref-10] "International Knockout Mouse Consortium".

[mgi_allele_ref-11] "Mouse Genome Informatics".

[pmid21677750-12] 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.

[mouse_library-13] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-15] 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.

RPAP2

Model organisms

References

Further reading