ZNF384
Description
The ZNF384 (zinc finger protein 384) is a protein-coding gene located on chromosome 12.
Zinc finger protein 384 is a protein encoded by the ZNF384 gene in humans. It is a C2H2-type zinc finger protein and may function as a transcription factor. The gene contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mice suggest that ZNF384 may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia.
ZNF384 is also known as CAGH1, CAGH1A, CIZ, ERDA2, NMP4, NP, TNRC1.
Associated Diseases
- urinary bladder carcinoma
- pancreatic ductal adenocarcinoma
- acute leukemia of ambiguous lineage
- gastrointestinal stromal tumor
