C1orf38

THEMIS2
Identifiers
Aliases	THEMIS2, C1orf38, ICB-1, thymocyte selection associated family member 2, ICB1, Chromosome 1 open reading frame 38
External IDs	OMIM: 617856; MGI: 2446213; HomoloGene: 21009; GeneCards: THEMIS2; OMA:THEMIS2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	27,886,685 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	132,523,698 bp
RNA expression pattern
	Top expressed in
	monocyte; ; granulocyte; ; blood; ; spleen; ; bone marrow cells; ; right lung; ; upper lobe of left lung; ; appendix; ; C1 segment; ; gallbladder;
	Top expressed in
	granulocyte; ; lymph node; ; spleen; ; mesenteric lymph nodes; ; blood; ; stroma of bone marrow; ; gastrula; ; subcutaneous adipose tissue; ; submandibular gland; ; tibiofemoral joint;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	nucleus; cytoplasm;
Biological process	inflammatory response; immune system process; cell adhesion; T cell receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	9473
	230787
	ENSG00000130775
	ENSMUSG00000037731
	Q5TEJ8
	Q91YX0
	NM_001039477; NM_001105556; NM_001286113; NM_001286115; NM_004848
	NM_001033308
	NP_001034566; NP_001099026; NP_001273042; NP_001273044; NP_004839
	NP_001028480
	Wikidata
View/Edit Human	View/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

*BC013712* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
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
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Abnormal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin histopathology	Normal
Brain histopathology	Normal
Eye histopathology	Normal
Salmonella infection	Normal^[7]
Citrobacter infection	Normal^[8]
All tests and analysis from^[9]^[10]

Model organisms have been used in the study of C1orf38 function. A conditional knockout mouse line, called BC013712^{tm1a(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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130775 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037731 – 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.
^ ^a ^b "Chromosome 1 open reading frame 38". Retrieved 2011-12-07.
^ 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.
^ "Salmonella infection data for BC013712". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for BC013712". Wellcome Trust Sanger Institute.
^ ^a ^b ^c 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". Archived from the original on 2012-05-29. Retrieved 2012-02-16.
^ "Mouse Genome Informatics".
^ 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.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ 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)

Model organisms

References

Further reading