ZNF384 (Zinc Finger protein 384)

2007-11-01 Paolo Gorello , Roberta La Starza , Cristina Mecucci Affiliation

Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

Identity

HGNC

ZNF384

LOCATION

12p13.31

LOCUSID

171017

ALIAS

CAGH1,CAGH1A,CIZ,ERDA2,NMP4,NP,TNRC1

FUSION GENES

Show Gene Fusions

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

Nucleocytoplasmic shuttling protein and transcription factor which appear to bind and regulate the promoter of MMP1, MMP3, MMP7 and COL1A1. Multiple transcript variants encoding several protein isoforms have been found.

Localisation

Nucleus

Implicated in

Entity name

Acute lymphoblastic leukemia with t(12;17)(p13;q11) --> TAF15-ZNF384

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).

Entity name

Acute lymphoblastic leukemia with t(12;19)(p13;p13) --> E2A- ZNF384

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

Acute lymphoblastic leukemia with t(12;22)(p13;q12) --> EWSR1-ZNF384

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

Gene ID	Transcript ID	Uniprot
ENSG00000126746	ENST00000319770	Q8TF68
ENSG00000126746	ENST00000355772	Q8TF68
ENSG00000126746	ENST00000361959	Q8TF68
ENSG00000126746	ENST00000396801	Q8TF68
ENSG00000126746	ENST00000417772	E9PHB3
ENSG00000126746	ENST00000436774	F5H8L7
ENSG00000126746	ENST00000535485	F5H6N8
ENSG00000126746	ENST00000538829	F5GYZ1
ENSG00000126746	ENST00000540915	F5H105
ENSG00000126746	ENST00000542351	F5H3Z9
ENSG00000126746	ENST00000544482	F5H0D6
ENSG00000126746	ENST00000545946	R4GMR4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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-(zinc-finger-protein-384)