THEMIS2
Identifiers
AliasesTHEMIS2, C1orf38, ICB-1, thymocyte selection associated family member 2, ICB1, Chromosome 1 open reading frame 38
External IDsOMIM: 617856 MGI: 2446213 HomoloGene: 21009 GeneCards: THEMIS2
Orthologs
SpeciesHumanMouse
Entrez

9473

230787

Ensembl

ENSG00000130775

ENSMUSG00000037731

UniProt

Q5TEJ8

Q91YX0

RefSeq (mRNA)

NM_001039477
NM_001105556
NM_001286113
NM_001286115
NM_004848

NM_001033308

RefSeq (protein)

NP_001034566
NP_001099026
NP_001273042
NP_001273044
NP_004839

NP_001028480

Location (UCSC)Chr 1: 27.87 – 27.89 MbChr 4: 132.51 – 132.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene.[5] The gene is also known as ICB-1 and THEMIS2 in humans, and the orthologue in mice is BC013712.[5] C1orf38 has been associated with cancer susceptibility.[6]

Model organisms

Model organisms have been used in the study of C1orf38 function. A conditional knockout mouse line, called BC013712tm1a(KOMP)Wtsi[11][12] 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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty six tests were carried out on mutant mice and one significant abnormality was observed: chromosomal instability was detect by a micronucleus test.[9]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000130775 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037731 - 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. 1 2 "Chromosome 1 open reading frame 38". Retrieved 2011-12-07.
  6. ↑ Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. (2009). "Single Nucleotide Polymorphisms in Human Gene icb-1 and Breast Cancer Susceptibility". Cancer Investigation. 27 (6): 669–672. doi:10.1080/07357900802620877. PMID 19308812. S2CID 205570175.
  7. ↑ "Salmonella infection data for BC013712". Wellcome Trust Sanger Institute.
  8. ↑ "Citrobacter infection data for BC013712". Wellcome Trust Sanger Institute.
  9. 1 2 3 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.
  10. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ↑ "International Knockout Mouse Consortium". Archived from the original on 2012-05-29. Retrieved 2012-02-16.
  12. ↑ "Mouse Genome Informatics".
  13. ↑ 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.
  14. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. ↑ 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.
  16. ↑ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Further reading


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