DPF2
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. [provided by RefSeq]
Full Name
D4, zinc and double PHD fingers family 2
Function
Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714).
Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407).
Might also have a role in the development and maturation of lymphoid cells (By similarity).
Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684).
Biological Process
Apoptotic process Source: ProtInc
Apoptotic signaling pathway Source: ProtInc
Chromatin organization Source: UniProtKB-KW
Negative regulation of myeloid progenitor cell differentiation Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: GO_Central
Negative regulation of transcription by RNA polymerase II Source: ARUK-UCL
Nervous system development Source: GO_Central
Positive regulation of transcription by RNA polymerase II Source: GO_Central
Cellular Location
Cytoplasm; Nucleus
Involvement in disease
Coffin-Siris syndrome 7 (CSS7):
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant.