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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_namesTNRC1
trinucleotide repeat containing 1
Alias_symbol (synonym)CAGH1A
CIZ
NMP4
NP
Other aliasCAGH1
ERDA2
HGNC (Hugo) ZNF384
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 hg19-Feb_2009)  [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 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).
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 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 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 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.
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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/ZNF384ID42881ch12p13.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 14 ]
  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;17)(p13;q12) ZNF384/TAF15
t(12;17)(p13;q12) TAF15/ZNF384
t(12;22)(p13;q13) EP300/ZNF384
t(12;22)(p13;q13) EP300/ZNF384

External links

Nomenclature
HGNC (Hugo)ZNF384   11955
Cards
AtlasZNF384ID42881ch12p13
Entrez_Gene (NCBI)ZNF384  171017  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
WikiGenes171017
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)
EnsemblZNF384 - 12p13.31 [CytoView hg19]  ZNF384 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIZNF384 [Mapview hg19]  ZNF384 [Mapview hg38]
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_133476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZNF384
Cluster EST : UnigeneHs.103315 [ NCBI ]
CGAP (NCI)Hs.103315
Alternative Splicing GalleryENSG00000126746
Gene ExpressionZNF384 [ NCBI-GEO ]   ZNF384 [ EBI - ARRAY_EXPRESS ]   ZNF384 [ SEEK ]   ZNF384 [ MEM ]
Gene Expression Viewer (FireBrowse)ZNF384 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ8TF68
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)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZNF384
DMDM Disease mutations171017
Blocks (Seattle)ZNF384
SuperfamilyQ8TF68
Human Protein Atlas [tissue]ENSG00000126746-ZNF384 [tissue]
Peptide AtlasQ8TF68
HPRD18332
IPIIPI00152875   IPI00220697   IPI00385446   IPI00736968   IPI00884346   IPI01015978   IPI01015589   IPI01015121   IPI01014683   IPI01012047   IPI01013372   IPI01011469   
Protein Interaction databases
DIP (DOE-UCLA)Q8TF68
IntAct (EBI)Q8TF68
FunCoupENSG00000126746
BioGRIDZNF384
STRING (EMBL)ZNF384
ZODIACZNF384
Ontologies - Pathways
QuickGOQ8TF68
Ontology : AmiGODNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleus  regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBIDNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  nucleus  regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkZNF384
Atlas of Cancer Signalling NetworkZNF384
Wikipedia pathwaysZNF384
Orthology - Evolution
OrthoDB171017
GeneTree (enSembl)ENSG00000126746
Phylogenetic Trees/Animal Genes : TreeFamZNF384
HOVERGENQ8TF68
HOGENOMQ8TF68
Homologs : HomoloGeneZNF384
Homology/Alignments : Family Browser (UCSC)ZNF384
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/ZNF384 [22q12.2/12p13.31]  [t(12;22)(p13;q12)]  
Fusion : MitelmanTAF15/ZNF384 [17q12/12p13.31]  [t(12;17)(p13;q12)]  
Fusion : MitelmanTCF3/ZNF384 [19p13.3/12p13.31]  [t(12;19)(p13;p13)]  
Fusion : COSMICEWSR1 [ZNF384]  -  345 [346]  [fusion_347]  [fusion_348]  
Fusion : TICdbTAF15 [17q12]  -  ZNF384 [12p13.31]
Fusion : TICdbTCF3 [19p13.3]  -  ZNF384 [12p13.31]
Fusion : QuiverZNF384
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZNF384 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZNF384
dbVarZNF384
ClinVarZNF384
1000_GenomesZNF384 
Exome Variant ServerZNF384
ExAC (Exome Aggregation Consortium)ENSG00000126746
GNOMAD BrowserENSG00000126746
Varsome BrowserZNF384
Genetic variants : HAPMAP171017
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]
Somatic Mutations in Cancer : COSMICZNF384  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDZNF384
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ZNF384
DgiDB (Drug Gene Interaction Database)ZNF384
DoCM (Curated mutations)ZNF384 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZNF384 (select a term)
intoGenZNF384
NCG5 (London)ZNF384
Cancer3DZNF384(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609951   
Orphanet
DisGeNETZNF384
MedgenZNF384
Genetic Testing Registry ZNF384
NextProtQ8TF68 [Medical]
TSGene171017
GENETestsZNF384
Target ValidationZNF384
Huge Navigator ZNF384 [HugePedia]
snp3D : Map Gene to Disease171017
BioCentury BCIQZNF384
ClinGenZNF384
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD171017
Chemical/Pharm GKB GenePA36644
Clinical trialZNF384
Miscellaneous
canSAR (ICR)ZNF384 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZNF384
EVEXZNF384
GoPubMedZNF384
iHOPZNF384
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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