Aliases for ZNF519 Gene

Aliases for ZNF519 Gene

  • Zinc Finger Protein 519 2 3 4 5
  • Similar To Zinc Finger Protein 85 (Zinc Finger Protein HPF4) (HTF1) 2
  • HsT2362 3

External Ids for ZNF519 Gene

Previous GeneCards Identifiers for ZNF519 Gene

  • GC18M014094
  • GC18M014030
  • GC18M015625
  • GC18M015733
  • GC18M015782
  • GC18M014108
  • GC18M014193
  • GC18M014404
  • GC18M014695
  • GC18M014956
  • GC18M015234
  • GC18M015522

Summaries for ZNF519 Gene

GeneCards Summary for ZNF519 Gene

ZNF519 (Zinc Finger Protein 519) is a Protein Coding gene. Diseases associated with ZNF519 include Dyggve-Melchior-Clausen Disease. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF429.

UniProtKB/Swiss-Prot Summary for ZNF519 Gene

Additional gene information for ZNF519 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF519 Gene

Genomics for ZNF519 Gene

GeneHancer (GH) Regulatory Elements for ZNF519 Gene

Promoters and enhancers for ZNF519 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J014131 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 541.4 +0.6 589 2.6 ZBTB40 EP300 NRF1 SP1 ZFX FOS ZBTB26 CTBP1 POLR2A TAF9B ZNF519 lnc-ZNF519-1 piR-48209-318
GH18J013824 Promoter/Enhancer 1.6 FANTOM5 Ensembl CraniofacialAtlas 16.8 +308.3 308289 0.8 CTCF ZBTB26 REST RAD21 CTBP1 EZH2 SMC3 ZNF266 TCF12 ZSCAN18 MC5R CEP192 ENSG00000267756 PTPN2 RNMT ENSG00000266969 ZNF519 piR-39858-299
GH18J013445 Enhancer 0.6 dbSUPER 12.9 +686.7 686742 0.4 TCF12 NONO KLF9 PLRG1 ZFHX2 ZGPAT NFATC1 BCL3 EGR2 ZNF24 lnc-RNMT-8 ZNF519 ENSG00000266969 ENSG00000267756 ENSG00000267515 LDLRAD4-AS1 LDLRAD4
GH18J014085 Enhancer 0.8 Ensembl CraniofacialAtlas 5.7 +46.3 46289 1.2 CTCF ZIC2 REST CUX1 RAD21 TRIM22 SMC3 CBFB ZNF335 ZNF654 ZNF519 ENSG00000267150 lnc-MC5R-7 lnc-ZNF519-1
GH18J014025 Enhancer 0.3 ENCODE 15.6 +106.5 106477 1.3 HDAC2 ZNF519 piR-61101-302 piR-50308-288
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF519 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF519

Top Transcription factor binding sites by QIAGEN in the ZNF519 gene promoter:
  • C/EBPalpha
  • GATA-1
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • SREBP-1a
  • SREBP-1b
  • SRF
  • SRF (504 AA)
  • XBP-1

Genomic Locations for ZNF519 Gene

Genomic Locations for ZNF519 Gene
76,167 bases
Minus strand
75,034 bases
Minus strand

Genomic View for ZNF519 Gene

Genes around ZNF519 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF519 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF519 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF519 Gene

Proteins for ZNF519 Gene

  • Protein details for ZNF519 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 519
    Protein Accession:

    Protein attributes for ZNF519 Gene

    540 amino acids
    Molecular mass:
    63020 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF519 Gene

Post-translational modifications for ZNF519 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF519 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF519 Gene

Domains & Families for ZNF519 Gene

Gene Families for ZNF519 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF519 Gene

  • KRAB box

Suggested Antigen Peptide Sequences for ZNF519 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 519 (ZN519_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF519: view

Function for ZNF519 Gene

Molecular function for ZNF519 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF519 Gene

Gene Ontology (GO) - Molecular Function for ZNF519 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 ZNF519: view
genes like me logo Genes that share phenotypes with ZNF519: view

Animal Model Products

Targeted motifs for ZNF519 Gene
HOMER Transcription Factor Regulatory Elements motif ZNF519
  • Consensus sequence: GAGSCCGAGC Submotif: canonical Cell Type: HEK293 GEO ID: GSE58341

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models and Transcription Factor Targets for ZNF519 Gene

Localization for ZNF519 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF519 Gene

Subcellular locations from

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 ZNF519 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF519 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF519: view

Pathways & Interactions for ZNF519 Gene

genes like me logo Genes that share pathways with ZNF519: view

Pathways by source for ZNF519 Gene

2 Reactome pathways for ZNF519 Gene
1 KEGG pathway for ZNF519 Gene

Gene Ontology (GO) - Biological Process for ZNF519 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF519: view

No data available for SIGNOR curated interactions for ZNF519 Gene

Drugs & Compounds for ZNF519 Gene

No Compound Related Data Available

Transcripts for ZNF519 Gene

mRNA/cDNA for ZNF519 Gene

8 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF519 Gene

No ASD Table

Relevant External Links for ZNF519 Gene

GeneLoc Exon Structure for

Expression for ZNF519 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF519 Gene

mRNA differential expression in normal tissues according to GTEx for ZNF519 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.0) and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for ZNF519 Gene

This gene is overexpressed in Ovary (54.9) and Skin (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF519 Gene

Protein tissue co-expression partners for ZNF519 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF519

SOURCE GeneReport for Unigene cluster for ZNF519 Gene:

genes like me logo Genes that share expression patterns with ZNF519: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF519 Gene

Orthologs for ZNF519 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF519 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZNF519 31 30
  • 99.44 (n)
(Rattus norvegicus)
Mammalia Zfp386 30
  • 63 (n)
(Mus musculus)
Mammalia Zfp386 17 30
  • 61.79 (n)
Zfp493 31
  • 53 (a)
(Bos Taurus)
Mammalia -- 31
  • 52 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 50 (a)
-- 31
  • 37 (a)
(Canis familiaris)
Mammalia -- 31
  • 34 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
-- 31
  • 35 (a)
-- 31
  • 33 (a)
-- 31
  • 29 (a)
-- 31
  • 27 (a)
-- 31
  • 26 (a)
-- 31
  • 26 (a)
-- 31
  • 25 (a)
Species where no ortholog for ZNF519 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZNF519 Gene

Gene Tree for ZNF519 (if available)
Gene Tree for ZNF519 (if available)
Evolutionary constrained regions (ECRs) for ZNF519: view image

Paralogs for ZNF519 Gene

Paralogs for ZNF519 Gene

(514) SIMAP similar genes for ZNF519 Gene using alignment to 3 proteins:

  • ZN519_HUMAN
genes like me logo Genes that share paralogs with ZNF519: view

Variants for ZNF519 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF519 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
788831 Benign: not provided 14,105,166(-) CTTCTCTCCAGTATGG INFRAME_DELETION
rs10221432 - p.Gly89Ser
rs16941623 - p.Trp18Arg
rs2159940 - p.Lys206Glu
rs8094412 - p.Arg229Ile

Additional dbSNP identifiers (rs#s) for ZNF519 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF519 Gene

Variant ID Type Subtype PubMed ID
dgv3321n100 CNV loss 25217958
dgv3322n100 CNV loss 25217958
dgv602e214 CNV loss 21293372
esv27400 CNV gain 19812545
esv2758715 CNV gain 17122850
esv2760500 CNV loss 21179565
esv3555094 CNV deletion 23714750
esv3641872 CNV loss 21293372
esv994375 CNV loss 20482838
nsv1061483 CNV loss 25217958
nsv1066142 CNV loss 25217958
nsv516839 CNV loss 19592680
nsv520945 CNV loss 19592680
nsv528944 CNV loss 19592680
nsv576529 CNV gain 21841781
nsv576531 CNV gain 21841781
nsv828185 CNV gain 20364138
nsv828187 CNV gain 20364138
nsv962493 CNV duplication 23825009
nsv978608 CNV duplication 23825009
nsv978609 CNV duplication 23825009

Variation tolerance for ZNF519 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.93; 89.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF519 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF519 Gene

Disorders for ZNF519 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF519 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyggve-melchior-clausen disease
  • dmc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF519

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZNF519: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF519 Gene

Publications for ZNF519 Gene

  1. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 41 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  4. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T … Hayashizaki Y (Cell 2010) 3 54
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54

Products for ZNF519 Gene

Sources for ZNF519 Gene