Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012] See more...

Aliases for ZNF516 Gene

Aliases for ZNF516 Gene

  • Zinc Finger Protein 516 2 3 4 5
  • KIAA0222 2 4
  • HsT287 2 3
  • ZNF516 5

External Ids for ZNF516 Gene

Previous GeneCards Identifiers for ZNF516 Gene

  • GC18M072199
  • GC18M072209
  • GC18M072201
  • GC18M074071
  • GC18M070754

Summaries for ZNF516 Gene

Entrez Gene Summary for ZNF516 Gene

  • Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]

GeneCards Summary for ZNF516 Gene

ZNF516 (Zinc Finger Protein 516) is a Protein Coding gene. Diseases associated with ZNF516 include Chromosome 18Q Deletion Syndrome and Vertical Talus, Congenital. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and proximal promoter sequence-specific DNA binding. An important paralog of this gene is ZNF536.

UniProtKB/Swiss-Prot Summary for ZNF516 Gene

  • Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress (PubMed:23446422).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF516 Gene

Genomics for ZNF516 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF516 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF516 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF516

Top Transcription factor binding sites by QIAGEN in the ZNF516 gene promoter:
  • AREB6
  • CUTL1
  • FOXF2
  • FOXO4
  • IRF-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • TGIF

Genomic Locations for ZNF516 Gene

Latest Assembly
chr18:76,357,682-76,495,255
(GRCh38/hg38)
Size:
137,574 bases
Orientation:
Minus strand

Previous Assembly
chr18:74,069,637-74,207,198
(GRCh37/hg19 by Entrez Gene)
Size:
137,562 bases
Orientation:
Minus strand

chr18:74,069,644-74,207,146
(GRCh37/hg19 by Ensembl)
Size:
137,503 bases
Orientation:
Minus strand

Genomic View for ZNF516 Gene

Genes around ZNF516 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF516 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF516 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF516 Gene

Proteins for ZNF516 Gene

  • Protein details for ZNF516 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92618-ZN516_HUMAN
    Recommended name:
    Zinc finger protein 516
    Protein Accession:
    Q92618

    Protein attributes for ZNF516 Gene

    Size:
    1163 amino acids
    Molecular mass:
    124289 Da
    Quaternary structure:
    • Interacts with PRDM16; the interaction is direct and may play a role in the transcription of brown adipose tissue-specific genes.
    SequenceCaution:
    • Sequence=BAA13211.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ZNF516 Gene

Post-translational modifications for ZNF516 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF516 Gene

Domains & Families for ZNF516 Gene

Gene Families for ZNF516 Gene

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

Protein Domains for ZNF516 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF516 Gene

GenScript: Design optimal peptide antigens:
  • ZNF516 protein (Q2YDX2_HUMAN)
  • Zinc finger protein 516 (ZN516_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92618

UniProtKB/Swiss-Prot:

ZN516_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 ZNF516: view

Function for ZNF516 Gene

Molecular function for ZNF516 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress (PubMed:23446422).

Phenotypes From GWAS Catalog for ZNF516 Gene

Gene Ontology (GO) - Molecular Function for ZNF516 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000987 proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0003677 DNA binding IEA --
GO:0033613 activating transcription factor binding IEA --
genes like me logo Genes that share ontologies with ZNF516: view
genes like me logo Genes that share phenotypes with ZNF516: view

miRNA for ZNF516 Gene

miRTarBase miRNAs that target ZNF516

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF516

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF516 Gene

Localization for ZNF516 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF516 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 ZNF516 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ZNF516 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,ISS --
genes like me logo Genes that share ontologies with ZNF516: view

Pathways & Interactions for ZNF516 Gene

genes like me logo Genes that share pathways with ZNF516: view

Pathways by source for ZNF516 Gene

1 KEGG pathway for ZNF516 Gene

Gene Ontology (GO) - Biological Process for ZNF516 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0009409 response to cold IEA --
GO:0045893 positive regulation of transcription, DNA-templated IEA,ISS --
GO:0050873 brown fat cell differentiation IEA,ISS --
genes like me logo Genes that share ontologies with ZNF516: view

No data available for SIGNOR curated interactions for ZNF516 Gene

Drugs & Compounds for ZNF516 Gene

No Compound Related Data Available

Transcripts for ZNF516 Gene

mRNA/cDNA for ZNF516 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF516

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF516 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for ZNF516 Gene

GeneLoc Exon Structure for
ZNF516

Expression for ZNF516 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF516 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF516 Gene

This gene is overexpressed in Brain (33.8) and Pancreatic juice (26.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF516 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF516

SOURCE GeneReport for Unigene cluster for ZNF516 Gene:

Hs.436973

Evidence on tissue expression from TISSUES for ZNF516 Gene

  • Bone marrow(4.2)
  • Eye(2.5)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ZNF516: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF516 Gene

Orthologs for ZNF516 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF516 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF516 30 31
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF516 30 31
  • 81.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfp516 30 17 31
  • 81.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfp516 30
  • 81.48 (n)
Cow
(Bos Taurus)
Mammalia ZNF516 30 31
  • 79.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZNF516 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZNF516 30 31
  • 66.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNF516 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100036701 30
  • 55.75 (n)
Str.16781 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3531 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100003866 30
  • 51.69 (n)
znf516 31
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3642 31
  • 22 (a)
OneToMany
Species where no ortholog for ZNF516 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for ZNF516 Gene

ENSEMBL:
Gene Tree for ZNF516 (if available)
TreeFam:
Gene Tree for ZNF516 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF516: view image

Paralogs for ZNF516 Gene

Variants for ZNF516 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF516 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs114279579 Benign: not provided 76,441,302(-) G/A
NM_014643.4(ZNF516):c.1753C>T (p.Leu585=)
SYNONYMOUS
rs192324175 Likely Benign: not provided 76,379,488(-) C/A
NM_014643.4(ZNF516):c.2626G>T (p.Ala876Ser)
MISSENSE
rs369466599 Benign: not provided 76,442,758(-) C/T
NM_014643.4(ZNF516):c.297G>A (p.Glu99=)
SYNONYMOUS
rs7233640 Benign: not provided 76,442,185(-) G/A
NM_014643.4(ZNF516):c.870C>T (p.Phe290=)
SYNONYMOUS
rs12961584 - p.Gly239Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZNF516 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ZNF516 Gene

Variant ID Type Subtype PubMed ID
dgv1640n106 CNV deletion 24896259
dgv1641n106 CNV deletion 24896259
dgv1642n106 CNV deletion 24896259
dgv469e201 CNV deletion 23290073
dgv6070n54 CNV gain 21841781
dgv6071n54 CNV loss 21841781
dgv6072n54 CNV gain+loss 21841781
dgv6073n54 CNV loss 21841781
dgv6074n54 CNV loss 21841781
dgv6075n54 CNV loss 21841781
dgv6076n54 CNV loss 21841781
dgv642e214 CNV loss 21293372
esv1000604 CNV deletion 20482838
esv1525447 CNV insertion 17803354
esv1570708 CNV deletion 17803354
esv2282909 CNV deletion 18987734
esv2508066 CNV deletion 19546169
esv2629775 CNV insertion 19546169
esv2656391 CNV loss 23635498
esv2661749 CNV deletion 23128226
esv2671026 CNV deletion 23128226
esv2717388 CNV deletion 23290073
esv2717389 CNV deletion 23290073
esv2717391 CNV deletion 23290073
esv2717392 CNV deletion 23290073
esv2717393 CNV deletion 23290073
esv2717394 CNV deletion 23290073
esv2717397 CNV deletion 23290073
esv2717399 CNV deletion 23290073
esv2717401 CNV deletion 23290073
esv2717402 CNV deletion 23290073
esv2717403 CNV deletion 23290073
esv28838 CNV gain 19812545
esv3429410 CNV duplication 20981092
esv3449264 CNV duplication 20981092
esv3643163 CNV loss 21293372
esv3643171 CNV loss 21293372
esv3643173 CNV gain 21293372
esv988971 CNV deletion 20482838
nsv1063632 CNV gain 25217958
nsv1064685 CNV gain 25217958
nsv1071864 CNV deletion 25765185
nsv1072278 CNV deletion 25765185
nsv1072814 CNV deletion 25765185
nsv1143884 CNV deletion 24896259
nsv1143885 CNV deletion 24896259
nsv131595 CNV deletion 16902084
nsv131684 CNV deletion 16902084
nsv131705 CNV deletion 16902084
nsv458302 CNV loss 19166990
nsv458303 CNV loss 19166990
nsv458305 CNV loss 19166990
nsv476459 CNV novel sequence insertion 20440878
nsv512546 CNV loss 21212237
nsv523904 CNV loss 19592680
nsv577661 CNV loss 21841781
nsv577662 CNV loss 21841781
nsv577663 CNV gain+loss 21841781
nsv577664 CNV gain 21841781
nsv577667 CNV gain+loss 21841781
nsv577671 CNV gain 21841781
nsv577672 CNV gain+loss 21841781
nsv577677 CNV loss 21841781
nsv577678 CNV loss 21841781
nsv577684 CNV loss 21841781
nsv577685 CNV loss 21841781
nsv828316 CNV gain 20364138
nsv953560 CNV deletion 24416366
nsv953561 CNV deletion 24416366

Variation tolerance for ZNF516 Gene

Gene Damage Index Score: 3.61; 56.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF516 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF516

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF516 Gene

Disorders for ZNF516 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNF516 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
vertical talus, congenital
  • cvt
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF516

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZNF516: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF516 Gene

Publications for ZNF516 Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4
  2. Cold-inducible Zfp516 activates UCP1 transcription to promote browning of white fat and development of brown fat. (PMID: 25578880) Dempersmier J … Sul HS (Molecular cell 2015) 3 4
  3. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 41
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4

Products for ZNF516 Gene

Sources for ZNF516 Gene