Gene Name | AFF3 (lymphoid nuclear protein related to AF4) |
Location | 2q11.2 |
Protein | AFF3 belongs to a family of putative transcription factors also comprising AFF1 (AF4, FEL, MLLT2) in 4q21, AFF2 (FMR2, FRAXE) in Xq28 and AFF4 (AF5Q31) in 5q31. AFF3 has been found a susceptibility gene in autoimmune diseases, namely rheumatoid arthritis, psoriatic arthritis, and juvenile idiopathic arthritis (Barton et al., 2009; Castelino and Barton, 2010; Hinks et al., 2010). AFF3 is deleted in Nievergelt syndrome, an autosomal dominant mesomelic dysplasia (Steichen-Gersdorf et al., 2008). AFF3 was also found expressed in 20% of mammary tumor cells but not in normal acini in a study (To et al., 2005). |
Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. |
Barton A, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P; YEAR Consortium; BIRAC Consortium, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J. |
Hum Mol Genet. 2009 Jul 1;18(13):2518-22. Epub 2009 Apr 9. |
PMID 19359276 |
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Genetic susceptibility factors for psoriatic arthritis. |
Castelino M, Barton A. |
Curr Opin Rheumatol. 2010 Mar;22(2):152-6. |
PMID 20084005 |
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Identification of the novel AML1 fusion partner gene, LAF4, a fusion partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) by bubble PCR method for cDNA. |
Chinen Y, Taki T, Nishida K, Shimizu D, Okuda T, Yoshida N, Kobayashi C, Koike K, Tsuchida M, Hayashi Y, Taniwaki M. |
Oncogene. 2008 Apr 3;27(15):2249-56. Epub 2007 Oct 29. |
PMID 17968322 |
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Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. |
Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Worthington J; Childhood Arthritis Prospective Study; UKRAG Consortium; BSPAR Study Group, Thomson W. |
Genes Immun. 2010 Mar;11(2):194-8. Epub 2010 Jan 14. |
PMID 20072139 |
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Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. |
Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S. |
Clin Genet. 2008 Dec;74(6):560-5. Epub 2008 Jun 23. |
PMID 18616733 |
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LAF-4 is aberrantly expressed in human breast cancer. |
To MD, Faseruk SA, Gokgoz N, Pinnaduwage D, Done SJ, Andrulis IL. |
Int J Cancer. 2005 Jul 1;115(4):568-74. |
PMID 15704140 |
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