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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
External Ids for ZNF516 Gene
- HGNC: 28990
- NCBI Entrez Gene: 9658
- Ensembl: ENSG00000101493
- OMIM®: 615114
- UniProtKB/Swiss-Prot: Q92618
Previous GeneCards Identifiers for ZNF516 Gene
- GC18M072199
- GC18M072209
- GC18M072201
- GC18M074071
- GC18M070754
Summaries 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).
Additional gene information for ZNF516 Gene
- HGNC (28990)
- NCBI Entrez Gene (9658)
- Ensembl (ENSG00000101493)
- OMIM® (615114)
- UniProtKB/Swiss-Prot (Q92618)
- Open Targets Platform(ENSG00000101493)
- Search for ZNF516 at DataMed
- Search for ZNF516 at HumanCyc
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:
-
- 18q23 by HGNC
- 18q23 by Entrez Gene
- 18q23 by Ensembl
ZNF516 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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};
Protein Expression for ZNF516 Gene
Post-translational modifications for ZNF516 Gene
Other Protein References for ZNF516 Gene
Antibodies for research
- Novus Biologicals Antibodies for ZNF516
- Invitrogen Antibodies for ZNF516 (AFLGC-ZNF516)
- antibodies-online: Show 3 available ZNF516 Antibodies ranked by validation data
- Compare Top ZNF516 Antibodies
-
Quality Products:
-
Biorbyt antibodies for ZNF516
- Sino Biological Antibodies for ZNF516
Protein products for research
-
OriGene Purified Proteins for ZNF516
- Search Origene for MassSpec and Protein Over-expression Lysates for ZNF516
- Origene Custom Protein Services for ZNF516
- Novus Biologicals proteins for ZNF516
Assay products for research
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- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family.
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
| 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 | -- |
Phenotypes for ZNF516 Gene
- MGI mutant phenotypes for ZNF516:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ZNF516:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZNF516 - Starting at $85 >
- * ZNF516 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZNF516
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZNF516
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF516
miRNA for ZNF516 Gene
- miRTarBase miRNAs that target ZNF516
-
- hsa-miR-186-5p (MIRT045309)
- hsa-miR-432-3p (MIRT439196)
- hsa-miR-1277-5p (MIRT508580)
- hsa-miR-190a-3p (MIRT508581)
- hsa-miR-5011-5p (MIRT508582)
- hsa-miR-410-3p (MIRT508583)
- hsa-miR-5692c (MIRT543552)
- hsa-miR-5692b (MIRT543553)
- hsa-miR-6739-3p (MIRT572454)
- hsa-miR-4677-5p (MIRT572455)
- hsa-miR-7156-5p (MIRT572456)
- hsa-miR-4273 (MIRT572457)
- hsa-miR-489-3p (MIRT572458)
- hsa-miR-4256 (MIRT572459)
- hsa-miR-3913-3p (MIRT572460)
- hsa-miR-6719-3p (MIRT572461)
- hsa-miR-4526 (MIRT572462)
- hsa-miR-3660 (MIRT572463)
- hsa-miR-6730-3p (MIRT572464)
- hsa-miR-4286 (MIRT572465)
- hsa-miR-6729-3p (MIRT572466)
- hsa-miR-2114-5p (MIRT572467)
- hsa-miR-6873-3p (MIRT651084)
- hsa-miR-6881-3p (MIRT651085)
- hsa-miR-6780a-3p (MIRT651086)
- hsa-miR-7111-3p (MIRT651087)
- hsa-miR-6817-3p (MIRT651088)
- hsa-miR-7110-3p (MIRT651089)
- hsa-miR-6769b-3p (MIRT651090)
- hsa-miR-4723-3p (MIRT651091)
- hsa-miR-3183 (MIRT651092)
- hsa-miR-1306-5p (MIRT651093)
- hsa-miR-4699-3p (MIRT651094)
- hsa-miR-575 (MIRT686196)
- hsa-miR-4676-5p (MIRT686197)
- hsa-miR-6858-3p (MIRT686198)
- hsa-miR-1266-5p (MIRT736708)
- hsa-miR-1296-3p (MIRT737226)
- hsa-miR-1908-5p (MIRT738337)
- hsa-miR-211-3p (MIRT738947)
- hsa-miR-24-3p (MIRT739237)
- hsa-miR-3144-5p (MIRT740228)
- hsa-miR-3179 (MIRT740765)
- hsa-miR-3180-3p (MIRT740796)
- hsa-miR-3180 (MIRT740836)
- hsa-miR-3191-3p (MIRT740995)
- hsa-miR-3196 (MIRT741094)
- hsa-miR-3202 (MIRT741190)
- hsa-miR-3612 (MIRT741627)
- hsa-miR-3934-3p (MIRT743093)
- hsa-miR-4270 (MIRT743608)
- hsa-miR-4284 (MIRT743729)
- hsa-miR-4441 (MIRT744575)
- hsa-miR-4481 (MIRT745134)
- hsa-miR-4518 (MIRT745781)
- hsa-miR-4652-5p (MIRT746612)
- hsa-miR-4706 (MIRT747345)
- hsa-miR-4745-5p (MIRT748205)
- hsa-miR-4747-5p (MIRT748294)
- hsa-miR-4749-5p (MIRT748325)
- hsa-miR-491-5p (MIRT749239)
- hsa-miR-5196-5p (MIRT750078)
- hsa-miR-524-3p (MIRT750283)
- hsa-miR-525-3p (MIRT750292)
- hsa-miR-650 (MIRT753075)
- hsa-miR-663a (MIRT753597)
- hsa-miR-6754-5p (MIRT754750)
- hsa-miR-6777-5p (MIRT755402)
- hsa-miR-6787-5p (MIRT755959)
- hsa-miR-6797-5p (MIRT756246)
- hsa-miR-6810-5p (MIRT756676)
- hsa-miR-6816-5p (MIRT756822)
- hsa-miR-6825-5p (MIRT757031)
- hsa-miR-6889-5p (MIRT758650)
- hsa-miR-9500 (MIRT760914)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZNF516
- Browse OriGene Inhibitory RNA Products For ZNF516
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF516
Clone products for research
- Applied Biological Materials (abm): Clones for ZNF516 - Starting at $45 >
- * ZNF516 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZNF516
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF516
Cell Lines for research
-
Horizon Cell Lines 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| cytosol | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,ISS | -- |
Pathways & Interactions for ZNF516 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
Pathways by source for ZNF516 Gene
1 KEGG pathway for ZNF516 Gene
Interacting Proteins for ZNF516 Gene
GPS-Prot Interaction Network for ZNF516
| 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 | -- |
No data available for SIGNOR curated interactions for ZNF516 Gene
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 :
-
- ENST00000443185 8678 nts (view in UCSC)
- ENST00000532857 482 nts (view in UCSC)
- ENST00000542818 346 nts (view in UCSC)
- ENST00000543743 682 nts (view in UCSC)
- ENST00000617840 2326 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZNF516 - Starting at $85 >
- * ZNF516 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZNF516
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZNF516
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF516
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZNF516
- Browse OriGene Inhibitory RNA Products For ZNF516
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF516
Clone products for research
- Applied Biological Materials (abm): Clones for ZNF516 - Starting at $45 >
- * ZNF516 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZNF516
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF516
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
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.436973Evidence on tissue expression from TISSUES for ZNF516 Gene
- Bone marrow(4.2)
- Eye(2.5)
- Nervous system(2.2)
Primer products for research
-
OriGene qPCR primer pairs for ZNF516
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ZNF516 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ZNF516 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Zfp516 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Zfp516 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ZNF516 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ZNF516 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ZNF516 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ZNF516 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100036701 30 |
|
||
| Str.16781 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3531 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100003866 30 |
|
||
| znf516 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3642 31 |
|
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
Paralogs for ZNF516 Gene
(64) SIMAP similar genes for ZNF516 Gene using alignment to 4 proteins:
- ZN516_HUMAN
- F5H2K2_HUMAN
- H0YH41_HUMAN
- Q2YDX2_HUMAN
- IKZF2
- ZBTB32
- ZNF536
- ZNF426
- MYNN
- KLF1
- ZSCAN10
- ZNF626
- ZNF219
- MAZ
- DKFZp686N0199
- A-328A3.4
- ZNF566
- ZNF213
- ZFS-3
- FIZ1
- kr-znf3
- ZNF253
- DKFZp434J0650
- ZNF78L1
- ZNF420
- ZNF384
- ZNF285
- ZNF410
- ZFX
- ZNF
- ZSCAN5A
- ZNF768
- ZNF708
- ZNF66
- ZNF562
- ZNF529
- ZFP1
- HKR1
- ZNF236
- ZNF79
- ZNF569
- ZNF540
- VEZF1
- PRDM9
- ZNF83
- ZNF688
- ZNF565
- ZNF479
- REST
- ZNF500
- ZBTB48
- ZNF263
- SALL3
- SALL1
- ZNF521
- ZNF283
- E4F1
- BCL6B
- ZNF223
- ZNF700
- ZNF668
- ZNF345
- ZNF72
- ZNF823
- ZNF101
- ZNF763
- ZNF628
- ZNF19
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chromosome 18q deletion syndrome |
|
|
| vertical talus, congenital |
|
|
Search ZNF516 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF516 Gene
Publications for ZNF516 Gene
- 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
- 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
- Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 41
- 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
- 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
ExternalLinks
Products for ZNF516 Gene
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- OriGene qPCR primer pairs for ZNF516
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- Sino Biological Antibodies for ZNF516
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- Invitrogen Antibodies for ZNF516 (AFLGC-ZNF516)
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- VectorBuilder CRISPR vectors for ZNF516 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ZNF516 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ZNF516
- antibodies-online: Show 3 available ZNF516 Antibodies ranked by validation data
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- Horizon Cell Lines for ZNF516
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZNF516
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- Biorbyt antibodies for ZNF516
Sources for ZNF516 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB