ZNF384 (Zinc Finger protein 384)
2007-11-01 Paolo Gorello , Roberta La Starza , Cristina Mecucci AffiliationHematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy
Identity
HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
CAGH1,CAGH1A,CIZ,ERDA2,NMP4,NP,TNRC1
FUSION GENES
DNA/RNA
Note
GeneLoc location for GC12M006646: Start: 6,645,904 bp from pter; End: 6,668,930 bp from pter; Size: 23,026 bases (23Kb); Orientation: minus strand
The diagram shows all genes (including ZNF384), with their orientation from centromere to telomere, which are localized in a region going from 6,590 Kbp to 6,720 Kbp at 12p13.
Transcription
Transcript Variant: different alternative splicing isoforms are described.
Proteins
Note
Similarity: belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers.
Schematic representation of CIZ protein. LZ: leucine-rich domain SR: serine rich domain PR: Proline rich domain NLS: Nuclear Localization signal ZFs: Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (See also Martini et al., Cancer Research 2002).
Description
Localisation
Nucleus
Implicated in
Entity name
Disease
pro-B Acute lymphoblastic leukemia with expression of myeloid antigens ( ANPEP/CD13 and/or CD33, and less frequently FUT4/CD15); acute myeloid leukemia.
Prognosis
Relatively good prognosis.
A) schematic representation of the reciprocal t(12;17)(p13;q11) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3 ZNF384 while RP11-101F21 partially overlaps with the 5 end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).
Fusion protein
TAF15-ZNF384
Schematic representation of the TAF15-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; RGG, Arg-Gly-Gly rich region, (RNA binding domain); LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (see also Martini et al., Cancer Res 2002).
Disease
pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens.
Prognosis
Relatively good prognosis.
Cytogenetics
The t(12;19)(p13;p13) is cryptic
A) schematic representation of the reciprocal t(12;19)(p13;p13) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3ZNF384 while RP11-101F21 partially overlaps with the 5 end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).
Fusion protein
ZNF384-E2A
Entity name
Disease
pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens; biphenotypic leukemia.
Prognosis
Relatively good prognosis.
Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.
Fusion protein
EWSR1-ZNF384
Schematic representation of the EWSR1-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains; QA, Gln-Ala repeat (see also Martini et al., Cancer Res 2002).
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12067068 | 2001 | Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors. | Bidwell JP et al |
| 16868967 | 2006 | Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter. | Fan Z et al |
| 16510139 | 2006 | Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? | Janssen H et al |
| 15781576 | 2005 | Identifying genes that regulate bone remodeling as potential therapeutic targets. | Krane SM et al |
| 15990865 | 2005 | CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients. | La Starza R et al |
| 12359745 | 2002 | Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia. | Martini A et al |
Other Information
Locus ID:
NCBI: 171017
MIM: 609951
HGNC: 11955
Ensembl: ENSG00000126746
Variants:
dbSNP: 171017
ClinVar: 171017
TCGA: ENSG00000126746
COSMIC: ZNF384
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38141017 | 2024 | A Transcription Factor ZNF384, Regulated by LINC00265, Activates the Expression of IFI30 to Stimulate Malignant Progression in Glioma. | 2 |
| 38287528 | 2024 | ZNF384 fusion transcript levels for measurable residual disease monitoring in adult B-cell acute lymphoblastic leukemia. | 0 |
| 38566191 | 2024 | EP300-ZNF384 transactivates IL3RA to promote the progression of B-cell acute lymphoblastic leukemia. | 0 |
| 39015025 | 2024 | RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins. | 1 |
| 38141017 | 2024 | A Transcription Factor ZNF384, Regulated by LINC00265, Activates the Expression of IFI30 to Stimulate Malignant Progression in Glioma. | 2 |
| 38287528 | 2024 | ZNF384 fusion transcript levels for measurable residual disease monitoring in adult B-cell acute lymphoblastic leukemia. | 0 |
| 38566191 | 2024 | EP300-ZNF384 transactivates IL3RA to promote the progression of B-cell acute lymphoblastic leukemia. | 0 |
| 39015025 | 2024 | RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins. | 1 |
| 36321253 | 2023 | Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation. | 4 |
| 36533589 | 2023 | ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. Biological and clinical findings. | 2 |
| 36882592 | 2023 | Clinical significance and biofunction of ZNF384 in renal cell carcinoma discovered by data mining and experimentation. | 0 |
| 37544723 | 2023 | [Clinical characteristics and outcomes of childhood B-ALL with ZNF384 and MEF2D rearrangements]. | 0 |
| 36321253 | 2023 | Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation. | 4 |
| 36533589 | 2023 | ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. Biological and clinical findings. | 2 |
| 36882592 | 2023 | Clinical significance and biofunction of ZNF384 in renal cell carcinoma discovered by data mining and experimentation. | 0 |
Citation
Paolo Gorello ; Roberta La Starza ; Cristina Mecucci
ZNF384 (Zinc Finger protein 384)
Atlas Genet Cytogenet Oncol Haematol. 2007-11-01
Online version: http://atlasgeneticsoncology.org/gene/42881/znf384
