The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016] See more...

Aliases for ZNF518A Gene

Aliases for ZNF518A Gene

  • Zinc Finger Protein 518A 2 3 4 5
  • Zinc Finger Protein 518 2 3
  • ZNF518 3 4
  • KIAA0335 4

External Ids for ZNF518A Gene

Previous HGNC Symbols for ZNF518A Gene

  • ZNF518

Previous GeneCards Identifiers for ZNF518A Gene

  • GC10P097880
  • GC10P091517

Summaries for ZNF518A Gene

Entrez Gene Summary for ZNF518A Gene

  • The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]

GeneCards Summary for ZNF518A Gene

ZNF518A (Zinc Finger Protein 518A) is a Protein Coding gene. Diseases associated with ZNF518A include Agammaglobulinemia 4, Autosomal Recessive and Nemaline Myopathy 5. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is ZNF518B.

UniProtKB/Swiss-Prot Summary for ZNF518A Gene

Additional gene information for ZNF518A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF518A Gene

Genomics for ZNF518A Gene

GeneHancer (GH) Regulatory Elements for ZNF518A Gene

Promoters and enhancers for ZNF518A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J096128 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 522.7 +1.4 1396 3.6 RXRA ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G SP1 ZNF518A ENSG00000287009 lnc-CCNJ-1 CCNJ NPM1P26 TCTN3 RPL13AP5 LCOR TM9SF3 ENTPD1-AS1
GH10J095654 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 55.8 -473.2 -473186 3.2 HNRNPK ZBTB40 MYC POLR2G USF1 SP1 PHF8 FOS ZFX ZNF10 ALDH18A1 ZNF518A TCTN3 CCNJ NPM1P26 TM9SF3 ENTPD1 piR-31496
GH10J096088 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 38 -39.3 -39316 2.2 ZBTB40 ZNF217 SIN3A TCF12 POLR2G SP1 NCOR1 GTF2E2 PHF8 JUND ENTPD1-AS1 ZNF518A TCTN3 NPM1P26 CCNJ RPL13AP5 LCOR TM9SF3 RNU6-271P CC2D2B
GH10J096042 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.6 -84.8 -84799 3.6 EP300 HNRNPK SIN3A USF1 POLR2G SP1 GTF2E2 PHF8 CTCF ZFX CCNJ TCTN3 ZNF518A RPL13AP5 NPM1P26 LCOR TM9SF3 piR-38351-057 ENTPD1-AS1
GH10J096579 Enhancer 1.1 ENCODE dbSUPER 47.6 +451.8 451797 2.7 ZSCAN5C RBAK ZNF639 ZNF10 ZIC2 ZBTB10 ZNF623 KLF7 ATF2 ZEB1 piR-34822-047 ZNF518A TCTN3 MMS19 NPM1P26 EXOSC1 CCNJ TM9SF3 MIR607 LCOR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF518A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF518A

Top Transcription factor binding sites by QIAGEN in the ZNF518A gene promoter:
  • GATA-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for ZNF518A Gene

Genomic Locations for ZNF518A Gene
chr10:96,129,200-96,205,288
(GRCh38/hg38)
Size:
76,089 bases
Orientation:
Plus strand
chr10:97,889,472-97,965,044
(GRCh37/hg19)
Size:
75,573 bases
Orientation:
Plus strand

Genomic View for ZNF518A Gene

Genes around ZNF518A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF518A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF518A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF518A Gene

Proteins for ZNF518A Gene

  • Protein details for ZNF518A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6AHZ1-Z518A_HUMAN
    Recommended name:
    Zinc finger protein 518A
    Protein Accession:
    Q6AHZ1
    Secondary Accessions:
    • A0PJI5
    • O15044
    • Q32MP4

    Protein attributes for ZNF518A Gene

    Size:
    1483 amino acids
    Molecular mass:
    166782 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH30967.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA20793.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF518A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF518A Gene

Post-translational modifications for ZNF518A Gene

  • Ubiquitination at Lys433, Lys1121, and Lys1438
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF518A Gene

Domains & Families for ZNF518A Gene

Gene Families for ZNF518A Gene

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

Protein Domains for ZNF518A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF518A Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 518A (Z518A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6AHZ1

UniProtKB/Swiss-Prot:

Z518A_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 ZNF518A: view

Function for ZNF518A Gene

Molecular function for ZNF518A Gene

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

Phenotypes From GWAS Catalog for ZNF518A Gene

Gene Ontology (GO) - Molecular Function for ZNF518A 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 ZNF518A: view

Phenotypes for ZNF518A Gene

genes like me logo Genes that share phenotypes with ZNF518A: view

Animal Model Products

CRISPR Products

miRNA for ZNF518A Gene

miRTarBase miRNAs that target ZNF518A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF518A Gene

Localization for ZNF518A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF518A 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 ZNF518A gene
Compartment Confidence
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF518A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZNF518A: view

Pathways & Interactions for ZNF518A Gene

PathCards logo

SuperPathways for ZNF518A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF518A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZNF518A Gene

Drugs & Compounds for ZNF518A Gene

No Compound Related Data Available

Transcripts for ZNF518A Gene

mRNA/cDNA for ZNF518A Gene

11 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 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 ZNF518A Gene

No ASD Table

Relevant External Links for ZNF518A Gene

GeneLoc Exon Structure for
ZNF518A

Expression for ZNF518A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF518A Gene

Protein differential expression in normal tissues from HIPED for ZNF518A Gene

This gene is overexpressed in Bone (33.5), Plasma (19.5), and Prostate (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF518A Gene



Protein tissue co-expression partners for ZNF518A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF518A

SOURCE GeneReport for Unigene cluster for ZNF518A Gene:

Hs.600823
genes like me logo Genes that share expression patterns with ZNF518A: view

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF518A Gene

Orthologs for ZNF518A Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF518A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF518A 30
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia ZNF518A 30
  • 90.1 (n)
cow
(Bos Taurus)
Mammalia ZNF518A 30
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Zfp518a 17 30
  • 80.56 (n)
rat
(Rattus norvegicus)
Mammalia Zfp518a 30
  • 80.45 (n)
chicken
(Gallus gallus)
Aves ZNF518A 30
  • 61.58 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia znf518a 30
  • 56.48 (n)
Species where no ortholog for ZNF518A 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZNF518A Gene

ENSEMBL:
Gene Tree for ZNF518A (if available)
TreeFam:
Gene Tree for ZNF518A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF518A: view image

Paralogs for ZNF518A Gene

(2) SIMAP similar genes for ZNF518A Gene using alignment to 1 proteins:

  • Z518A_HUMAN
genes like me logo Genes that share paralogs with ZNF518A: view

Variants for ZNF518A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF518A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
639984 Uncertain Significance: Agammaglobulinemia 4, autosomal recessive 96,204,589(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
730500 Likely Benign: not provided 96,192,096(+) G/A INTRON_VARIANT
750201 Likely Benign: not provided 96,196,929(+) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
751678 Likely Benign: not provided 96,197,034(+) A/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
762443 Likely Benign: not provided 96,200,150(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF518A Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF518A Gene

Variant ID Type Subtype PubMed ID
esv3579082 CNV loss 25503493
nsv1110852 OTHER inversion 24896259
nsv1134043 CNV deletion 24896259
nsv831947 CNV gain+loss 17160897

Additional Variant Information for ZNF518A Gene

Human Gene Mutation Database (HGMD)
ZNF518A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF518A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ZNF518A Gene

Disorders for ZNF518A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNF518A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 4, autosomal recessive
  • agm4
nemaline myopathy 5
  • nem5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF518A

genes like me logo Genes that share disorders with ZNF518A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF518A Gene

Publications for ZNF518A Gene

No publications were found for ZNF518A Gene.

Products for ZNF518A Gene

Sources for ZNF518A Gene