GeneID: 444
Names
Common Name: | IGSF4 | Type: | Gene |
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Chromosome: | 11 (NC_000011.10) | Locus: | NM_001301043.2 (CADM1) |
HUGO Symbol: | CADM1 | Full Name: | cell adhesion molecule 1 |
Exons: | 12 | Introns: | 11 |
Description:
The IGSF4 gene encodes a cell adhesion molecule as a member of immunoglobulin superfamily 4, and plays a major role in globin synthesis through its involvement in globin expression regulation. The promoter of the IGSF4 gene (containing 12 CpG sites) is highly methylated (thus inactivated) and the expression of IGSF4 gene is markedly down-regulated in thalassaemia patients compared to healthy controls. IGSF4 could be a potential modifier of β-thalassaemia severity and a candidate biomarker for non-invasive prenatal diagnosis and clinical classification of thalassaemia.
Synonyms: BL2 , ST17 , NECL2 , RA175 , TSLC1 , IGSF4A , Necl-2 , SYNCAM , sgIGSF , sTSLC-1 , synCAM1
Comments:
N/A
Number of entries/variants: 0
Sequence Viewer
Publications / Origin
- Gao T, Nie Y, Hu H, Liang Z, Hypermethylation of IGSF4 gene for noninvasive prenatal diagnosis of thalassemia., Med Sci Monit, 18(1), BR33-40, 2012 PubMed
- Zakaria NA, Islam MA, Abdullah WZ, Bahar R, Mohamed Yusoff AA, Abdul Wahab R, Shamsuddin S, Johan MF, Epigenetic Insights and Potential Modifiers as Therapeutic Targets in -Thalassemia., Biomolecules, 11(5), 0, 2021 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2021-08-19 09:52:15 | The IthaGenes Curation Team | Created |
2 | 2021-08-19 09:53:25 | The IthaGenes Curation Team | Reviewed. Reference. |