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Aliases for ZNF384 Gene

Aliases for ZNF384 Gene

  • Zinc Finger Protein 384 2 3 5
  • Trinucleotide Repeat-Containing Gene 1 Protein 3 4
  • Nuclear Matrix Transcription Factor 4 3 4
  • CAG Repeat Protein 1 3 4
  • TNRC1 3 4
  • CAGH1 3 4
  • NMP4 3 4
  • CIZ 3 4
  • Cas-Interacting Zinc Finger Protein 3
  • CAS-Interacting Zinc Finger Protein 4
  • Trinucleotide Repeat Containing 1 2
  • Expanded Repeat Domain, CAG/CTG 2 3
  • Nuclear Matrix Protein 4 4
  • CAGH1A 3
  • ERDA2 3
  • NP 3

External Ids for ZNF384 Gene

Previous HGNC Symbols for ZNF384 Gene

  • TNRC1

Previous GeneCards Identifiers for ZNF384 Gene

  • GC12P006784
  • GC12P006908
  • GC12M006655
  • GC12M006646
  • GC12M006775

Summaries for ZNF384 Gene

Entrez Gene Summary for ZNF384 Gene

  • This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]

GeneCards Summary for ZNF384 Gene

ZNF384 (Zinc Finger Protein 384) is a Protein Coding gene. Diseases associated with ZNF384 include Acute Leukemia and Ewing Sarcoma. GO annotations related to this gene include nucleic acid binding and SH3 domain binding. An important paralog of this gene is ZNF362.

UniProtKB/Swiss-Prot for ZNF384 Gene

  • Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity).

Gene Wiki entry for ZNF384 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF384 Gene

Genomics for ZNF384 Gene

Regulatory Elements for ZNF384 Gene

Enhancers for ZNF384 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G006602 1.7 FANTOM5 ENCODE dbSUPER 15.6 +83.8 83845 7.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000219410 ENSG00000247853 NOP2 ACRBP ZNF384 LPAR5 SCARNA11 IFFO1 ING4 C12orf57
GH12G006637 1.5 Ensembl ENCODE dbSUPER 15.9 +50.5 50530 2.1 HDGF PKNOX1 ATF1 ARNT TCF12 GATA2 FOS KDM4B JUNB NCOA1 LPAR5 ZNF384 ACRBP
GH12G006531 1.4 ENCODE dbSUPER 15.5 +152.5 152477 12.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 NCAPD2 ENSG00000219410 MRPL51 ENSG00000247853 SPSB2 TAPBPL VAMP1 NOP2 ENSG00000256967 ZNF384
GH12G006777 1.6 Ensembl ENCODE dbSUPER 11 -89.4 -89408 2.9 HDGF PKNOX1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 GPR162 P3H3 ZNF384 ING4 ENSG00000219410 PIANP ACRBP LPAR5 GAPDH ENSG00000255966
GH12G006634 1.5 Ensembl ENCODE dbSUPER 11.2 +53.6 53635 2.0 HDGF PKNOX1 SIN3A YBX1 ZNF121 ZNF207 KLF13 ZNF263 YY2 JUNB NCAPD2 ZNF384 LPAR5 ENSG00000245667 LOC105369631
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF384 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF384 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048335 372 2401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

Transcription factor binding sites by QIAGEN in the ZNF384 gene promoter:

Genomic Location for ZNF384 Gene

Chromosome:
12
Start:
6,666,477 bp from pter
End:
6,689,572 bp from pter
Size:
23,096 bases
Orientation:
Minus strand

Genomic View for ZNF384 Gene

Genes around ZNF384 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF384 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF384 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF384 Gene

Proteins for ZNF384 Gene

  • Protein details for ZNF384 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF68-ZN384_HUMAN
    Recommended name:
    Zinc finger protein 384
    Protein Accession:
    Q8TF68
    Secondary Accessions:
    • O15407
    • Q7Z722
    • Q8N938

    Protein attributes for ZNF384 Gene

    Size:
    577 amino acids
    Molecular mass:
    63219 Da
    Quaternary structure:
    • Interacts with BCAR1.

    Alternative splice isoforms for ZNF384 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF384 Gene

Post-translational modifications for ZNF384 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF384 Gene

Domains & Families for ZNF384 Gene

Suggested Antigen Peptide Sequences for ZNF384 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TF68

UniProtKB/Swiss-Prot:

ZN384_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF384: view

Function for ZNF384 Gene

Molecular function for ZNF384 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity).

Gene Ontology (GO) - Molecular Function for ZNF384 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF384: view
genes like me logo Genes that share phenotypes with ZNF384: view

Animal Models for ZNF384 Gene

MGI Knock Outs for ZNF384:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF384 Gene

Localization for ZNF384 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF384 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF384 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZNF384 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF384: view

Pathways & Interactions for ZNF384 Gene

SuperPathways for ZNF384 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF384 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF384: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF384 Gene

Drugs & Compounds for ZNF384 Gene

(1) Drugs for ZNF384 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZNF384: view

Transcripts for ZNF384 Gene

Unigene Clusters for ZNF384 Gene

Zinc finger protein 384:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF384 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12 ^ 13a ·
SP1: - - - - - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: - - - - - -
SP6: -
SP7: -
SP8: - - - -
SP9: - - - -
SP10:
SP11: -
SP12: - - -
SP13: - -

ExUns: 13b ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ZNF384 Gene

GeneLoc Exon Structure for
ZNF384
ECgene alternative splicing isoforms for
ZNF384

Expression for ZNF384 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF384 Gene

Protein differential expression in normal tissues from HIPED for ZNF384 Gene

This gene is overexpressed in CD8 Tcells (14.5), Heart (8.7), NK cells (6.8), Retina (6.7), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF384 Gene



Protein tissue co-expression partners for ZNF384 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF384 Gene:

ZNF384

SOURCE GeneReport for Unigene cluster for ZNF384 Gene:

Hs.103315

Evidence on tissue expression from TISSUES for ZNF384 Gene

  • Nervous system(4.6)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ZNF384: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF384 Gene

Orthologs for ZNF384 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF384 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF384 34 35
  • 94.56 (n)
dog
(Canis familiaris)
Mammalia ZNF384 34 35
  • 94.2 (n)
cow
(Bos Taurus)
Mammalia ZNF384 34 35
  • 91.91 (n)
rat
(Rattus norvegicus)
Mammalia Zfp384 34
  • 91.51 (n)
mouse
(Mus musculus)
Mammalia Zfp384 34 16 35
  • 90.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF384 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF384 34 35
  • 80.88 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF384 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf384 34
  • 73.78 (n)
Str.10042 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8596 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536427 34
  • 63.6 (n)
znf384l 35
  • 56 (a)
OneToMany
ZNF384 (2 of 3) 35
  • 54 (a)
OneToMany
ZNF384 (3 of 3) 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sqz 36 35
  • 59 (a)
rn 36 35
  • 57 (a)
CG2052 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-29 35
  • 24 (a)
OneToMany
Species where no ortholog for ZNF384 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZNF384 Gene

ENSEMBL:
Gene Tree for ZNF384 (if available)
TreeFam:
Gene Tree for ZNF384 (if available)

Paralogs for ZNF384 Gene

Paralogs for ZNF384 Gene

Pseudogenes.org Pseudogenes for ZNF384 Gene

genes like me logo Genes that share paralogs with ZNF384: view

Variants for ZNF384 Gene

Sequence variations from dbSNP and Humsavar for ZNF384 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000205501 -- 6,676,987(+) ATAGT(A/G)GAACT intron-variant
rs1000314823 -- 6,667,698(+) AGTGG(G/T)TGGCA utr-variant-3-prime
rs1000329595 -- 6,671,527(+) GGACC(A/T)CTGGT intron-variant
rs1000399243 -- 6,680,930(+) CTGTG(C/T)TTCCG intron-variant
rs1000540475 -- 6,666,737(+) TGAAA(A/G)TTCTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ZNF384 Gene

Variant ID Type Subtype PubMed ID
esv2761725 CNV gain 21179565
nsv1113454 CNV deletion 24896259
nsv832322 CNV loss 17160897
nsv832323 CNV loss 17160897
nsv983480 CNV duplication 23825009

Variation tolerance for ZNF384 Gene

Residual Variation Intolerance Score: 5.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF384 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF384

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF384 Gene

Disorders for ZNF384 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNF384 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute leukemia
  • stem cell leukaemia
ewing sarcoma
  • neuroepithelioma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZNF384

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF384
genes like me logo Genes that share disorders with ZNF384: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF384 Gene

Publications for ZNF384 Gene

  1. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis R.L. … Ross C.A. (Hum. Genet. 1997) 2 3 4 64
  2. E2A-ZNF384 and NOL1-E2A fusion created by a cryptic t(12;19)(p13.3; p13.3) in acute leukemia. (PMID: 18185522) Zhong C.H. … Hunger S.P. (Leukemia 2008) 3 22 64
  3. Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? (PMID: 16510139) Janssen H. … Marynen P. (Exp. Cell Res. 2006) 3 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Cloning and functional analysis of a family of nuclear matrix transcription factors (NP/NMP4) that regulate type I collagen expression in osteoblasts. (PMID: 11149472) Thunyakitpisal P. … Bidwell J.P. (J. Bone Miner. Res. 2001) 2 3 64

Products for ZNF384 Gene

Sources for ZNF384 Gene

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