Alternative titles; symbols
HGNC Approved Gene Symbol: CFHR2
Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,943,738-196,959,622 (from NCBI)
The CFHR2 gene encodes a serum protein structurally and immunologically related to complement factor H (CFH; 134370). Skerka et al. (1995) isolated and characterized the CFHR2 gene from a YAC library.
Skerka et al. (1995) determined that the CFHR2 gene contains 5 exons and spans about 7 kb of genomic DNA.
Skerka et al. (1995) demonstrated that the CFHR2 gene and the gene for the beta subunit of coagulation factor XIII (F13B; 134580) are located in the same 165-kb YAC DNA. Thus, the 3 structurally related genes F13B, CFHR2, and CFH are linked on chromosome 1 in the RCA (regulators of complement activation) gene cluster.
The 5 factor H-related proteins have been identified and shown to be encoded by 5 genes, CFHR1 (134371), CFHR2, CFHR3 (605336), CFHR4 (605337), and CFHR5 (608593), all closely linked to the CFH gene on chromosome 1q31-q32.1 (Diaz-Guillen et al., 1999; Jozsi et al., 2005).
Diaz-Guillen, M. A., Rodriguez de Cordoba, S., Heine-Suner, D. A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics 49: 549-552, 1999. [PubMed: 10380701] [Full Text: https://doi.org/10.1007/s002510050534]
Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F. FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene. Europ. J. Hum. Genet. 13: 321-329, 2005. [PubMed: 15562282] [Full Text: https://doi.org/10.1038/sj.ejhg.5201324]
Skerka, C., Moulds, J. M., Taillon-Miller, P., Hourcade, D., Zipfel, P. F. The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene. Immunogenetics 42: 268-274, 1995. [PubMed: 7672821] [Full Text: https://doi.org/10.1007/BF00176444]