ZNF384 (Zinc Finger protein 384)

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

Hematology, 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
Atlas Image
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.
Atlas Image
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.
Atlas Image
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
Atlas Image
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
Atlas Image
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.
Atlas Image
Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.
Fusion protein
EWSR1-ZNF384
Atlas Image
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

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
120670682001Involvement 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
168689672006Identification 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
165101392006Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?Janssen H et al
157815762005Identifying genes that regulate bone remodeling as potential therapeutic targets.Krane SM et al
159908652005CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.La Starza R et al
123597452002Recurrent 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 IDTranscript IDUniprot
ENSG00000126746ENST00000319770Q8TF68
ENSG00000126746ENST00000355772Q8TF68
ENSG00000126746ENST00000361959Q8TF68
ENSG00000126746ENST00000396801Q8TF68
ENSG00000126746ENST00000417772E9PHB3
ENSG00000126746ENST00000436774F5H8L7
ENSG00000126746ENST00000535485F5H6N8
ENSG00000126746ENST00000538829F5GYZ1
ENSG00000126746ENST00000540915F5H105
ENSG00000126746ENST00000542351F5H3Z9
ENSG00000126746ENST00000544482F5H0D6
ENSG00000126746ENST00000545946R4GMR4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123597452002Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.37
276342052017ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype.17
279036462017Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities of EP300 and CREBBP.13
273921232016Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion.11
215047142011Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12).10
159908652005CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.9
295313232018Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression.2
119566022002MIB-1, p53, bcl-2, and WAF-1 expression in pelvic lymph nodes and primary tumors in early stage cervical carcinomas: correlation with clinical outcome.1
194267072009TAF15 and the leukemia-associated fusion protein TAF15-CIZ/NMP4 are cleaved by caspases-3 and -7.1
270580072016The Transcription Factor NMP4 Binds to the AQP5 Promoter and Is a Novel Transcriptional Regulator of the AQP5 Gene.1

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