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ZNF384 (Zinc Finger protein 384)

Written2007-11Paolo Gorello, Roberta La Starza, Cristina Mecucci
Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)CAGH1
CAGH1A
CIZ
ERDA2
NMP4
NP
TNRC1
HGNC (Hugo) ZNF384
HGNC Alias symbCAGH1A
CIZ
NMP4
NP
HGNC Previous nameTNRC1
HGNC Previous nametrinucleotide repeat containing 1
LocusID (NCBI) 171017
Atlas_Id 42881
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 6666477 and ends at 6689375 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ZNF384.png]
Local_order centromere 5'-ZNF384- 3' telomere
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARID1B (6q25.3)::ZNF384 (12p13.31)CREBBP (16p13.3)::ZNF384 (12p13.31)EP300 (22q13.2)::ZNF384 (12p13.31)
EWSR1 (22q12.2)::ZNF384 (12p13.31)SMARCA2 (9p24.3)::ZNF384 (12p13.31)SYNRG (17q12)::ZNF384 (12p13.31)
TAF15 (17q12)::ZNF384 (12p13.31)TCF3 (19p13.3)::ZNF384 (12p13.31)ZNF384 (12p13.31)::CREBBP (16p13.3)
ZNF384 (12p13.31)::EIF4B (12q13.13)ZNF384 (12p13.31)::EWSR1 (22q12.2)ZNF384 (12p13.31)::RNF180 (5q12.3)
ZNF384 (12p13.31)::SDR16C5 (8q12.1)ZNF384 (12p13.31)::TAF15 (17q12)

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.

Protein

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

Note
  
Entity Acute lymphoblastic leukemia with --> 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).
Abnormal 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 Acute lymphoblastic leukemia with --> 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 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).
Abnormal Protein ZNF384-E2A
  
  
Entity Acute lymphoblastic leukemia with --> 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.
Abnormal 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

 

Bibliography

Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors.
Bidwell JP, Torrungruang K, Alvarez M, Rhodes SJ, Shah R, Jones DR, Charoonpatrapong K, Hock JM, Watt AJ
Critical reviews in eukaryotic gene expression. 2001 ; 11 (4) : 279-297.
PMID 12067068
 
Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter.
Fan Z, Tardif G, Boileau C, Bidwell JP, Geng C, Hum D, Watson A, Pelletier JP, Lavigne M, Martel-Pelletier J
Arthritis and rheumatism. 2006 ; 54 (8) : 2471-2480.
PMID 16868967
 
Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?
Janssen H, Marynen P
Experimental cell research. 2006 ; 312 (7) : 1194-1204.
PMID 16510139
 
Identifying genes that regulate bone remodeling as potential therapeutic targets.
Krane SM
The Journal of experimental medicine. 2005 ; 201 (6) : 841-843.
PMID 15781576
 
CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.
La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boqué C, Foà R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1696-1699.
PMID 15990865
 
Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foà R, Hagemeijer A, Mecucci C, Marynen P
Cancer research. 2002 ; 62 (19) : 5408-5412.
PMID 12359745
 

Citation

This paper should be referenced as such :
Gorello, P ; La, Starza R ; Mecucci, C
ZNF384 (zinc finger protein 384)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):299-302.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 11 ]
  t(12;17)(p13;q11) TAF15::ZNF384
t(12;19)(p13;p13) TCF3::ZNF384
t(12;22)(p13;q12) EWSR1::ZNF384
t(4;12)(q21;p13) BMP2K::ZNF384
t(5;12)(q12;p13) ZNF384::RNF180
t(6;12)(q25;p13) ARID1B::ZNF384
t(9;12)(p24;p13) SMARCA2::ZNF384
t(12;16)(p13;p13) CREBBP::ZNF384
t(12;16)(p13;p13) ZNF384::CREBBP
t(12;17)(p13;q12) SYNRG::ZNF384
t(12;22)(p13;q13) EP300::ZNF384

External links

 

Nomenclature
HGNC (Hugo)ZNF384   11955
Cards
AtlasZNF384ID42881ch12p13
Entrez_Gene (NCBI)ZNF384    zinc finger protein 384
AliasesCAGH1; CAGH1A; CIZ; ERDA2; 
NMP4; NP; TNRC1
GeneCards (Weizmann)ZNF384
Ensembl hg19 (Hinxton)ENSG00000126746 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126746 [Gene_View]  ENSG00000126746 [Sequence]  chr12:6666477-6689375 [Contig_View]  ZNF384 [Vega]
ICGC DataPortalENSG00000126746
TCGA cBioPortalZNF384
AceView (NCBI)ZNF384
Genatlas (Paris)ZNF384
SOURCE (Princeton)ZNF384
Genetics Home Reference (NIH)ZNF384
Genomic and cartography
GoldenPath hg38 (UCSC)ZNF384  -     chr12:6666477-6689375 -  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZNF384  -     12p13.31   [Description]    (hg19-Feb_2009)
GoldenPathZNF384 - 12p13.31 [CytoView hg19]  ZNF384 - 12p13.31 [CytoView hg38]
ImmunoBaseENSG00000126746
Genome Data Viewer NCBIZNF384 [Mapview hg19]  
OMIM609951   
Gene and transcription
Genbank (Entrez)AK095734 AK298962 AL047622 AL047623 AV689743
RefSeq transcript (Entrez)NM_001039916 NM_001039917 NM_001039918 NM_001039919 NM_001039920 NM_001135734 NM_001385739 NM_001385740 NM_001385741 NM_001385742 NM_001385743 NM_001385744 NM_001385745 NM_001385746 NM_001385747 NM_001385748 NM_001385749 NM_001385750 NM_001385751 NM_001385752 NM_001385753 NM_001385754 NM_001385755 NM_001385756 NM_001385757 NM_001385758 NM_001385759 NM_001385760 NM_001385761 NM_001385762 NM_001385763 NM_001385764 NM_001385765 NM_001385766 NM_001385767 NM_001385768 NM_001385769 NM_001385770 NM_001385771 NM_001385772 NM_001385773 NM_001385774 NM_001385775 NM_001385776 NM_001385777 NM_001385778 NM_001385779 NM_001385780 NM_001385781 NM_001385782 NM_001385783 NM_001385784 NM_001385785 NM_001385786 NM_001385787 NM_001385788 NM_001385789 NM_001385790 NM_001385791 NM_001385792 NM_001385793 NM_001385794 NM_001385795 NM_001385796 NM_001385797 NM_001385798 NM_001385799 NM_001385800 NM_001385801 NM_133476
Consensus coding sequences : CCDS (NCBI)ZNF384
Gene ExpressionZNF384 [ NCBI-GEO ]   ZNF384 [ EBI - ARRAY_EXPRESS ]   ZNF384 [ SEEK ]   ZNF384 [ MEM ]
Gene Expression Viewer (FireBrowse)ZNF384 [ Firebrowse - Broad ]
GenevisibleExpression of ZNF384 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)171017
GTEX Portal (Tissue expression)ZNF384
Human Protein AtlasENSG00000126746-ZNF384 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TF68   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TF68  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TF68
PhosPhoSitePlusQ8TF68
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00096   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZNF384
SuperfamilyQ8TF68
AlphaFold pdb e-kbQ8TF68   
Human Protein Atlas [tissue]ENSG00000126746-ZNF384 [tissue]
HPRD18332
Protein Interaction databases
DIP (DOE-UCLA)Q8TF68
IntAct (EBI)Q8TF68
BioGRIDZNF384
STRING (EMBL)ZNF384
ZODIACZNF384
Ontologies - Pathways
QuickGOQ8TF68
Ontology : AmiGORNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  nucleus  regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIRNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  nucleus  regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  sequence-specific double-stranded DNA binding  
NDEx NetworkZNF384
Atlas of Cancer Signalling NetworkZNF384
Wikipedia pathwaysZNF384
Orthology - Evolution
OrthoDB171017
GeneTree (enSembl)ENSG00000126746
Phylogenetic Trees/Animal Genes : TreeFamZNF384
Homologs : HomoloGeneZNF384
Homology/Alignments : Family Browser (UCSC)ZNF384
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1::ZNF384 [22q12.2/12p13.31]  
Fusion : MitelmanTAF15::ZNF384 [17q12/12p13.31]  
Fusion : MitelmanTCF3::ZNF384 [19p13.3/12p13.31]  
Fusion : COSMICEWSR1 [22q12.2]  -  ZNF384 [12p13.31]  [fusion_345]  [fusion_346]  [fusion_347]  
Fusion : QuiverZNF384
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZNF384 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZNF384
dbVarZNF384
ClinVarZNF384
MonarchZNF384
1000_GenomesZNF384 
Exome Variant ServerZNF384
GNOMAD BrowserENSG00000126746
Varsome BrowserZNF384
ACMGZNF384 variants
VarityQ8TF68
Genomic Variants (DGV)ZNF384 [DGVbeta]
DECIPHERZNF384 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZNF384 
Mutations
ICGC Data PortalZNF384 
TCGA Data PortalZNF384 
Broad Tumor PortalZNF384
OASIS PortalZNF384 [ Somatic mutations - Copy number]
Cancer Gene: CensusZNF384 
Somatic Mutations in Cancer : COSMICZNF384  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DZNF384
Mutations and Diseases : HGMDZNF384
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaZNF384
DgiDB (Drug Gene Interaction Database)ZNF384
DoCM (Curated mutations)ZNF384
CIViC (Clinical Interpretations of Variants in Cancer)ZNF384
OncoKBZNF384
NCG (London)ZNF384
Cancer3DZNF384
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609951   
Orphanet
DisGeNETZNF384
MedgenZNF384
Genetic Testing Registry ZNF384
NextProtQ8TF68 [Medical]
GENETestsZNF384
Target ValidationZNF384
Huge Navigator ZNF384 [HugePedia]
ClinGenZNF384
Clinical trials, drugs, therapy
MyCancerGenomeZNF384
Protein Interactions : CTDZNF384
Pharm GKB GenePA36644
PharosQ8TF68
Clinical trialZNF384
Miscellaneous
canSAR (ICR)ZNF384
HarmonizomeZNF384
DataMed IndexZNF384
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXZNF384
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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