INTS12

INTS12
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WEV
Identifiers
Aliases	INTS12 , INT12, PHF22, SBBI22, integrator complex subunit 12
External IDs	OMIM: 611355 MGI: 1919043 HomoloGene: 32474 GeneCards: INTS12
Gene location (Mouse) Chr. Chromosome 3 (mouse) [1] Band 3|3 G3 Start 132,797,601 bp [1] End 132,816,749 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte right ventricle islet of Langerhans gastrocnemius muscle jejunal mucosa triceps brachii muscle ganglionic eminence biceps brachii Achilles tendon Top expressed in secondary oocyte otic placode medial ganglionic eminence maxillary prominence morula hand seminiferous tubule vas deferens retinal pigment epithelium spermatid More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding Cellular component integrator complex nucleoplasm nucleus Biological process snRNA processing snRNA transcription by RNA polymerase II snRNA 3'-end processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57117 71793 Ensembl n/a ENSMUSG00000028016 UniProt Q96CB8 Q9D168 RefSeq (mRNA) NM_001142471 NM_020395 NM_027927 RefSeq (protein) NP_001135943 NP_065128 NP_001135943.1 NP_065128.2 NP_082203 Location (UCSC) n/a Chr 3: 132.8 – 132.82 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Integrator complex subunit 12 (Int12) also known as PHD finger protein 22 (PHF22) is a protein that in humans is encoded by the INTS12 gene. ^[4]

INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1) and U2 (RNU2) ^{[4] [5]}

Model organisms

Ints12 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
Skin Histopathology	Normal
Brain histopathology	Normal
Eye 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 INTS12 function. A conditional knockout mouse line, called Ints12^{tm1a(EUCOMM)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 seven 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. GRCm38: Ensembl release 89: ENSMUSG00000028016 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: integrator complex subunit 12" . Retrieved 2011-08-30.
5. Baillat D, Hakimi MA, et al. (2005). "Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II". Cell. 123 (2): 265–76. doi: 10.1016/j.cell.2005.08.019 . PMID   16239144. S2CID   18069461.
6. "Salmonella infection data for Ints12". Wellcome Trust Sanger Institute.
7. "Citrobacter infection data for Ints12". 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, 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.
13. Dolgin E (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 (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 Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Kalsi G, Kuo PH, Aliev F, et al. (2010). "A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts". Hum. Mol. Genet. 19 (12): 2497–506. doi:10.1093/hmg/ddq112. PMC   2876884 . PMID   20332099.
• 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.