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Gene Review

SRSF6  -  serine/arginine-rich splicing factor 6

Homo sapiens

Synonyms: B52, HEL-S-91, Pre-mRNA-splicing factor SRP55, SFRS6, SRP55, ...
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Disease relevance of SFRS6

  • Close association of HLA-B51 and B52 in Israeli patients with Behçet's syndrome [1].
  • B52 and B44 antigens were associated with HIV resistance while B51 was associated with HIV susceptibility [2].
  • The observation suggest that HLA linked genes are definitely involved in the development of Takayasu arteritis and that the disease in Indian subjects is associated with HLA-B5 and its two serological subtypes, B51 as well as B52 [3].
  • The frequencies of HLA B35, B52, B62, DRB1*0404, and DRB1*0406 were higher in the ErbB-2-positive lung cancer patients than in the ErbB-2-negative lung cancer patients [4].

High impact information on SFRS6


Biological context of SFRS6

  • Significantly higher phenotype frequencies of B52, MICA TM-STR 6, and DR2 were observed in patients with UC [9].
  • Linkage disequilibria among alleles associated with UC revealed that a B52 - MICA TM-STR 6 - DR2 haplotype was conserved in patients with UC, as in controls [9].
  • Frequency of HLA-DRB1*1502 was also increased but it was suggested to be a reflection of its linkage disequilibrium with B52 [10].

Analytical, diagnostic and therapeutic context of SFRS6

  • Using Western blot (immunoblot) analysis and whole-mount immunofluorescence, we demonstrate that B52 is widely expressed throughout development, although some developmental stages and tissues appear to have higher B52 levels than others do [5].
  • HLA-B51 and B52 were present in 24/38 (63%) and 8/38 (21%), respectively, of the patients compared with 13/151 (9%) of the control group for both cases, a relative risk of 18.2 and 2.8 respectively [1].
  • HLA class I (B54 and B52) and HLA class II (DQ alleles) genes were also typed by polymerase chain reaction-sequence-specific oligonucleotide probe (PCR SSOP) method to confirm alleles [11].
  • Platelet transfusion from the third donor was effective because these platelets expressed HLA A24 and B52 but not B60 or B61 [12].


  1. Close association of HLA-B51 and B52 in Israeli patients with Behçet's syndrome. Arber, N., Klein, T., Meiner, Z., Pras, E., Weinberger, A. Ann. Rheum. Dis. (1991) [Pubmed]
  2. HLA-associated susceptibility to HIV-1 infection. Fabio, G., Scorza, R., Lazzarin, A., Marchini, M., Zarantonello, M., D'Arminio, A., Marchisio, P., Plebani, A., Luzzati, R., Costigliola, P. Clin. Exp. Immunol. (1992) [Pubmed]
  3. Immunogenetic analysis of Takayasu arteritis in Indian patients. Mehra, N.K., Jaini, R., Balamurugan, A., Kanga, U., Prabhakaran, D., Jain, S., Talwar, K.K., Sharma, B.K. International journal of cardiology. (1998) [Pubmed]
  4. Analysis of serum ErbB-2 protein and HLA-DRB1 in Japanese patients with lung cancer. Yoshimura, C., Nomura, S., Yamaoka, M., Ohtani, T., Matsuzakiz, T., Yamaguchi, K., Fukuharal, S. Cancer Lett. (2000) [Pubmed]
  5. The concentration of B52, an essential splicing factor and regulator of splice site choice in vitro, is critical for Drosophila development. Kraus, M.E., Lis, J.T. Mol. Cell. Biol. (1994) [Pubmed]
  6. Mycobacterium tuberculosis-reactive CD8+ T lymphocytes: the relative contribution of classical versus nonclassical HLA restriction. Lewinsohn, D.M., Briden, A.L., Reed, S.G., Grabstein, K.H., Alderson, M.R. J. Immunol. (2000) [Pubmed]
  7. Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55. Nagel, R.J., Lancaster, A.M., Zahler, A.M. RNA (1998) [Pubmed]
  8. A case of chronic herpes gestationis: persistent disease or conversion to bullous pemphigoid? Amato, L., Mei, S., Gallerani, I., Moretti, S., Fabbri, P. J. Am. Acad. Dermatol. (2003) [Pubmed]
  9. Stratification analysis of MICA triplet repeat polymorphisms and HLA antigens associated with ulcerative colitis in Japanese. Seki, S.S., Sugimura, K., Ota, M., Matsuzawa, J., Katsuyama, Y., Ishizuka, K., Mochizuki, T., Suzuki, K., Yoneyama, O., Mizuki, N., Honma, T., Inoko, H., Asakura, H. Tissue Antigens (2001) [Pubmed]
  10. Association of clinical manifestations with HLA-B alleles in Takayasu arteritis. Kitamura, H., Kobayashi, Y., Kimura, A., Numano, F. International journal of cardiology. (1998) [Pubmed]
  11. HLA class II DNA typing in Buerger's disease. Aerbajinai, W., Tsuchiya, T., Kimura, A., Yasukochi, Y., Numano, F. International journal of cardiology. (1996) [Pubmed]
  12. Neonatal alloimmune thrombocytopenia due to anti-human leukocyte antigen antibody: a case report. Sasaki, M., Yagihashi, A., Kobayashi, D., Watanabe, N., Fujikawa, T., Chiba, S., Sato, S., Morishita, K., Sekimoto, T., Ikeda, H. Pediatric hematology and oncology. (2001) [Pubmed]
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