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
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; ; blood; ; spleen; ; bone marrow cells; ; right lung; ; upper lobe of left lung; ; appendix; ; gallbladder; ; lymph node; ; spongy bone;
	Top expressed in
	lymph node; ; spleen; ; blood; ; subcutaneous adipose tissue; ; submandibular gland; ; internal carotid artery; ; external carotid artery; ; white adipose tissue; ; right lung; ; carotid body;
	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

Last updated February 08, 2024

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]

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Chromosome 11 open reading frame 53 is a protein that in humans is encoded by the C11orf53 gene. Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer. Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors. C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment. CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000130775 - Ensembl, May 2017
1 2 3 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.
1 2 "Chromosome 1 open reading frame 38" . Retrieved 2011-12-07.
↑ Springwald A, Lattrich C, Seitz S, Ortmann O, Treeck O (July 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.

C1orf38

Related Research Articles

References

Further reading