HGNC Approved Gene Symbol: ZKSCAN8
Cytogenetic location: 6p22.1 Genomic coordinates (GRCh38): 6:28,141,635-28,159,460 (from NCBI)
In a search for a candidate gene for hereditary hemochromatosis, Beutler et al. (1995) isolated a partial cDNA clone of ZNF192.
From an ovarian library, Lee et al. (1997) cloned a cDNA containing the entire open reading frame encoding a predicted 578-amino acid protein. Northern blot analysis revealed that the 8.5-kb mRNA is expressed ubiquitously, with strongest expression in ovary. ZNF192 belongs to a subfamily of Kruppel proteins that have a 67-amino acid SCAN box and lack the A and B domains of the Kruppel-associated box (KRAB). In a screening of 52 normal donors, Lee et al. (1997) identified 3 polymorphisms, 1 of which was silent.
By direct cDNA hybridization to YACs from region 6p21.3, Lee et al. (1997) isolated ZNF192 from a cluster of zinc finger protein genes. All were members of the Kruppel family of transcriptional activators, containing a conserved C2H2 domain (see 165230).
Beutler, E., Gelbart, T., West, C., Kuhl, W., Lee, P. A strategy for cloning the hereditary hemochromatosis gene. Blood Cells Molec. Dis. 21: 207-216, 1995. [PubMed: 8673473] [Full Text: https://doi.org/10.1006/bcmd.1995.0024]
Lee, P. L., Gelbart, T., West, C., Adams, M., Blackstone, R., Beutler, E. Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain. Genomics 43: 191-201, 1997. [PubMed: 9244436] [Full Text: https://doi.org/10.1006/geno.1997.4806]