HGNC Approved Gene Symbol: PHF2
Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38) : 9:93,576,584-93,679,587 (from NCBI)
PHD (plant homeodomain) finger genes are thought to belong to a diverse group of transcriptional regulators affecting eukaryotic gene expression by influencing chromatin structure (Hasenpusch-Theil et al., 1999). See 602881.
By screening a size-fractionated human brain cDNA library for cDNAs encoding proteins larger than 50 kD, Ishikawa et al. (1998) identified PHF2, which they called KIAA0662. By in vitro transcription/translation, they determined that the PHF2 gene encodes a protein of molecular mass greater than 100 kD. RT-PCR showed expression of PHF2 in all tissues examined.
Hasenpusch-Theil et al. (1999) isolated a cDNA encoding PHF2 from a human cDNA library enriched for transcripts from chromosome 9q22. The PHF2 cDNA encodes a putative 1,099-amino acid protein with a PHD finger motif at the N terminus, 8 putative nuclear localization signals, and 2 PEST (proline-glutamic acid-serine-threonine) domains. Northern blot analysis of adult human tissues detected a 5.5-kb transcript in all tissues examined.
Hasenpusch-Theil et al. (1999) determined that the genetic marker D9S196 on chromosome 9q22 is located near or within the PHF2 gene. They confirmed the mapping of the PHF2 gene to 9q22 by localizing this marker by PCR to a cosmid used in the isolation procedure. Ishikawa et al. (1998) mapped the PHF2 gene to chromosome 9 by analysis of a radiation hybrid panel.
Hasenpusch-Theil, K., Chadwick, B. P., Theil, T., Heath, S. K., Wilkinson, D. G., Frischauf, A. M. PHF2, a novel PHD finger gene located on human chromosome 9q22. Mammalian Genome 10: 294-298, 1999. [PubMed: 10051327] [Full Text: https://doi.org/10.1007/s003359900989]
Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176, 1998. [PubMed: 9734811] [Full Text: https://doi.org/10.1093/dnares/5.3.169]