| | 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) |
| 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). |
| | |
| 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 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | ZNF384 11955 |
| Cards |
|---|
| Atlas | ZNF384ID42881ch12p13 |
| Entrez_Gene (NCBI) | ZNF384 171017 zinc finger protein 384 |
| Aliases | CAGH1; 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 DataPortal | ENSG00000126746 |
| TCGA cBioPortal | ZNF384 |
| AceView (NCBI) | ZNF384 |
| Genatlas (Paris) | ZNF384 |
| WikiGenes | 171017 |
| 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) |
| Ensembl | ZNF384 - 12p13.31 [CytoView hg19] ZNF384 - 12p13.31 [CytoView hg38] |
| Mapping of homologs : NCBI | ZNF384 [Mapview hg19] ZNF384 [Mapview hg38] |
| OMIM | 609951 |
| 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 : Unigene | Hs.103315 [ NCBI ] |
| CGAP (NCI) | Hs.103315 |
| Alternative Splicing Gallery | ENSG00000126746 |
| Gene Expression | ZNF384 [ 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 171017 |
| GTEX Portal (Tissue expression) | ZNF384 |
| Human Protein Atlas | ENSG00000126746-ZNF384 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q8TF68 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q8TF68 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q8TF68 |
| Splice isoforms : SwissVar | Q8TF68 |
| PhosPhoSitePlus | Q8TF68 |
| 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 mutations | 171017 |
| Blocks (Seattle) | ZNF384 |
| Superfamily | Q8TF68 |
| Human Protein Atlas [tissue] | ENSG00000126746-ZNF384 [tissue] |
| Peptide Atlas | Q8TF68 |
| HPRD | 18332 |
| IPI | IPI00152875 IPI00220697 IPI00385446 IPI00736968 IPI00884346 IPI01015978 IPI01015589 IPI01015121 IPI01014683 IPI01012047 IPI01013372 IPI01011469 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q8TF68 |
| IntAct (EBI) | Q8TF68 |
| FunCoup | ENSG00000126746 |
| BioGRID | ZNF384 |
| STRING (EMBL) | ZNF384 |
| ZODIAC | ZNF384 |
| Ontologies - Pathways |
|---|
| QuickGO | Q8TF68 |
| Ontology : AmiGO | RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus transcription, DNA-templated regulation of transcription by RNA polymerase II metal ion binding |
| Ontology : EGO-EBI | RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus transcription, DNA-templated regulation of transcription by RNA polymerase II metal ion binding |
| NDEx Network | ZNF384 |
| Atlas of Cancer Signalling Network | ZNF384 |
| Wikipedia pathways | ZNF384 |
| Orthology - Evolution |
|---|
| OrthoDB | 171017 |
| GeneTree (enSembl) | ENSG00000126746 |
| Phylogenetic Trees/Animal Genes : TreeFam | ZNF384 |
| HOVERGEN | Q8TF68 |
| HOGENOM | Q8TF68 |
| Homologs : HomoloGene | ZNF384 |
| Homology/Alignments : Family Browser (UCSC) | ZNF384 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | EWSR1/ZNF384 [22q12.2/12p13.31] [t(12;22)(p13;q12)] |
| Fusion : Mitelman | TAF15/ZNF384 [17q12/12p13.31] [t(12;17)(p13;q12)] |
| Fusion : Mitelman | TCF3/ZNF384 [19p13.3/12p13.31] [t(12;19)(p13;p13)] |
| Fusion : COSMIC | EWSR1 [ZNF384] - 345 [346] [fusion_347] [fusion_348] |
| Fusion : TICdb | TAF15 [17q12] - ZNF384 [12p13.31] |
| Fusion : TICdb | TCF3 [19p13.3] - ZNF384 [12p13.31] |
| Fusion : Quiver | ZNF384 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | ZNF384 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | ZNF384 |
| dbVar | ZNF384 |
| ClinVar | ZNF384 |
| 1000_Genomes | ZNF384 |
| Exome Variant Server | ZNF384 |
| ExAC (Exome Aggregation Consortium) | ENSG00000126746 |
| GNOMAD Browser | ENSG00000126746 |
| Varsome Browser | ZNF384 |
| Genetic variants : HAPMAP | 171017 |
| Genomic Variants (DGV) | ZNF384 [DGVbeta] |
| DECIPHER | ZNF384 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | ZNF384 |
| Mutations |
|---|
| ICGC Data Portal | ZNF384 |
| TCGA Data Portal | ZNF384 |
| Broad Tumor Portal | ZNF384 |
| OASIS Portal | ZNF384 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | ZNF384 |
| Somatic Mutations in Cancer : COSMIC | ZNF384 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | ZNF384 |
| 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 |
| BioMuta | search 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) |
| intoGen | ZNF384 |
| NCG5 (London) | ZNF384 |
| Cancer3D | ZNF384(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 609951 |
| Orphanet | |
| DisGeNET | ZNF384 |
| Medgen | ZNF384 |
| Genetic Testing Registry | ZNF384
|
| NextProt | Q8TF68 [Medical] |
| TSGene | 171017 |
| GENETests | ZNF384 |
| Target Validation | ZNF384 |
| Huge Navigator |
ZNF384 [HugePedia] |
| snp3D : Map Gene to Disease | 171017 |
| BioCentury BCIQ | ZNF384 |
| ClinGen | ZNF384 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 171017 |
| Chemical/Pharm GKB Gene | PA36644 |
| Clinical trial | ZNF384 |
| Miscellaneous |
|---|
| canSAR (ICR) | ZNF384 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 29 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | ZNF384 |
| EVEX | ZNF384 |
| GoPubMed | ZNF384 |
| iHOP | ZNF384 |
