Gene: DPF2

Alternate names for this Gene: CSS7|REQ|UBID4|ubi-d4

Gene Summary: The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: double PHD fingers 2

Type of Gene: protein-coding

rs1555031372 in DPF2 gene and COFFIN-SIRIS SYNDROME 7 PMID 29429572 2018 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

rs1555031372 in DPF2 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 PMID 29429572 2018 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

rs1555031372 in DPF2 gene and Poor school performance PMID 29429572 2018 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

rs7950149 in DPF2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.