Aliases for ZNF514 Gene

Aliases for ZNF514 Gene

  • Zinc Finger Protein 514 2 3 4 5

External Ids for ZNF514 Gene

Previous GeneCards Identifiers for ZNF514 Gene

  • GC02M095298
  • GC02M095235
  • GC02M095813
  • GC02M089842
  • GC02M095147

Summaries for ZNF514 Gene

GeneCards Summary for ZNF514 Gene

ZNF514 (Zinc Finger Protein 514) is a Protein Coding gene. Diseases associated with ZNF514 include Autosomal Dominant Non-Syndromic Intellectual Disability 2. 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 and DNA-binding transcription factor activity. An important paralog of this gene is ZNF135.

UniProtKB/Swiss-Prot Summary for ZNF514 Gene

Additional gene information for ZNF514 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF514 Gene

Genomics for ZNF514 Gene

GeneHancer (GH) Regulatory Elements for ZNF514 Gene

Promoters and enhancers for ZNF514 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
GH02J095164 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 517.1 -0.1 -88 3 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 USF1 POLR2G ZNF514 ZNF2 lnc-ZNF514-1 PROM2 lnc-ZNF514-2
GH02J095158 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +6.1 6098 2.6 NRF1 POLR2G PHF8 ZFX ZIC2 POLR2A ZBTB26 MYC CTBP1 MXI1 piR-38580-165 ZNF514 ENSG00000235584 MRPS5 lnc-MRPS5-3
GH02J095050 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 34.7 +108.0 108017 13.2 CTCF POLR2G NCOR1 ZIC2 KDM6A RELA TGIF2 RAD21 TRIM22 CTBP1 HSALNG0016921 ZNF514 KCNIP3 ENSG00000233850 MAL GPAT2P1 PROM2 ENSG00000231062 NONHSAG028561.2
GH02J095206 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 26.6 -42.1 -42087 3 ZBTB40 ZNF217 EP300 CTCF TCF12 POLR2G PHF8 SIX5 ZFX ZNF10 ENSG00000233757 lnc-ZNF514-11 ZNF514 GPAT2P1
GH02J095120 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 +44.1 44110 2.6 EP300 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 PHF8 ZFX CTCF piR-50444-256 MRPS5 ZNF514 piR-44110-033 lnc-MRPS5-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF514 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF514

Top Transcription factor binding sites by QIAGEN in the ZNF514 gene promoter:
  • ATF6
  • c-Myb
  • HTF
  • Ik-2
  • SREBP-1b
  • SREBP-1c
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A

Genomic Locations for ZNF514 Gene

Genomic Locations for ZNF514 Gene
35,304 bases
Minus strand
18,084 bases
Minus strand

Genomic View for ZNF514 Gene

Genes around ZNF514 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF514 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF514 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF514 Gene

Proteins for ZNF514 Gene

  • Protein details for ZNF514 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 514
    Protein Accession:
    Secondary Accessions:
    • Q5JPJ3

    Protein attributes for ZNF514 Gene

    400 amino acids
    Molecular mass:
    45938 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF514 Gene

Post-translational modifications for ZNF514 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF514 Gene

No data available for DME Specific Peptides for ZNF514 Gene

Domains & Families for ZNF514 Gene

Gene Families for ZNF514 Gene

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

Protein Domains for ZNF514 Gene

  • KRAB box

Suggested Antigen Peptide Sequences for ZNF514 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 514 (ZN514_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 ZNF514: view

Function for ZNF514 Gene

Molecular function for ZNF514 Gene

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

Phenotypes From GWAS Catalog for ZNF514 Gene

Gene Ontology (GO) - Molecular Function for ZNF514 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 ZNF514: view
genes like me logo Genes that share phenotypes with ZNF514: view

Animal Model Products

CRISPR Products

miRNA for ZNF514 Gene

miRTarBase miRNAs that target ZNF514

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF514 Gene

Localization for ZNF514 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF514 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 ZNF514 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZNF514 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 ZNF514: view

Pathways & Interactions for ZNF514 Gene

genes like me logo Genes that share pathways with ZNF514: view

Pathways by source for ZNF514 Gene

2 Reactome pathways for ZNF514 Gene
1 KEGG pathway for ZNF514 Gene

Interacting Proteins for ZNF514 Gene


Gene Ontology (GO) - Biological Process for ZNF514 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 ZNF514: view

No data available for SIGNOR curated interactions for ZNF514 Gene

Drugs & Compounds for ZNF514 Gene

No Compound Related Data Available

Transcripts for ZNF514 Gene

mRNA/cDNA for ZNF514 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF514 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - - - - - -
SP2: -
SP3: - -
SP4: - - - - -

Relevant External Links for ZNF514 Gene

GeneLoc Exon Structure for

Expression for ZNF514 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF514 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF514

SOURCE GeneReport for Unigene cluster for ZNF514 Gene:


Evidence on tissue expression from TISSUES for ZNF514 Gene

  • Lung(4.2)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with ZNF514: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF514 Gene

Orthologs for ZNF514 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ZNF514 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZNF514 31 30
  • 99.33 (n)
(Canis familiaris)
Mammalia ZNF514 31 30
  • 87 (n)
(Bos Taurus)
Mammalia ZNF514 31 30
  • 86.08 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 43 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 42 (a)
-- 31
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZAP1 33
Species where no ortholog for ZNF514 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 ZNF514 Gene

Gene Tree for ZNF514 (if available)
Gene Tree for ZNF514 (if available)
Evolutionary constrained regions (ECRs) for ZNF514: view image

Paralogs for ZNF514 Gene

Paralogs for ZNF514 Gene

(509) SIMAP similar genes for ZNF514 Gene using alignment to 2 proteins:

  • ZN514_HUMAN
  • C9K038_HUMAN Pseudogenes for ZNF514 Gene

genes like me logo Genes that share paralogs with ZNF514: view

Variants for ZNF514 Gene

Additional dbSNP identifiers (rs#s) for ZNF514 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF514 Gene

Variant ID Type Subtype PubMed ID
dgv4007n100 CNV gain 25217958
esv3591652 OTHER inversion 21293372
nsv1160825 CNV duplication 26073780

Variation tolerance for ZNF514 Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF514 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF514 Gene

Disorders for ZNF514 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF514 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF514

genes like me logo Genes that share disorders with ZNF514: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF514 Gene

Publications for ZNF514 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 54
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54

Products for ZNF514 Gene

Sources for ZNF514 Gene