Aliases for ZNF483 Gene

Aliases for ZNF483 Gene

  • Zinc Finger Protein 483 2 3 4 5
  • ZKSCAN16 2 3 4
  • Zinc Finger Protein With KRAB And SCAN Domains 16 3 4
  • KIAA1962 2 4
  • ZSCAN48 2 3
  • Zinc Finger Protein HIT-10 3
  • ZNF483 5

External Ids for ZNF483 Gene

Previous GeneCards Identifiers for ZNF483 Gene

  • GC09P109667
  • GC09P111366
  • GC09P113327
  • GC09P114287
  • GC09P083886

Summaries for ZNF483 Gene

GeneCards Summary for ZNF483 Gene

ZNF483 (Zinc Finger Protein 483) is a Protein Coding gene. Diseases associated with ZNF483 include Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Gene Expression. 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 ZNF483 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF483 Gene

Genomics for ZNF483 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF483 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
GH09J111524 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 256.2 +0.5 532 2.2 MXD4 ZNF217 ZIC2 HOMEZ SIN3A ZNF341 KMT2B GABPB1 CTBP1 DMAP1 ZNF483 lnc-DNAJC25-5 RF00017-7813 PTGR1
GH09J112010 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13 +487.0 487042 7.6 SP1 BCL11A ZNF217 POLR2A ZBTB7B ELF1 MBD2 FOXA2 IRF4 TRIM22 ZNF483 ENSG00000259953 SUSD1 UGCG RF00017-7823 piR-33614-279 piR-31210-052
GH09J111481 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 -41.7 -41659 4.6 TBP ZBTB10 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 SMAD5 IRF2 ECPAS HSALNG0073684 HSALNG0073686 PTGR1 ZNF483 RF00017-7815 RF00017-7813 OR2K2
GH09J110536 Enhancer 0.9 Ensembl ENCODE 13.6 -988.4 -988358 0.8 FEZF1 BRCA1 ZEB1 CEBPB EP300 PRDM1 ZNF843 STAT3 BCL11B TCF7L2 ZNF483 SVEP1 RF00026-1139 FJ601684-466 TXNDC8
GH09J111597 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 5.8 +73.8 73842 2.8 CEBPA MNT CTCF ZIC2 CEBPB SIN3A REST MAX SAP130 ZNF341 PTGR1 lnc-C9orf84-1 GNG10 LRRC37A5P ZNF483 HSALNG0073695 lnc-PTGR1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF483 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF483

Top Transcription factor binding sites by QIAGEN in the ZNF483 gene promoter:
  • Brachyury
  • E2F-2
  • E2F-3a
  • NF-E2
  • NF-E2 p45
  • Nkx2-2
  • Pax-4a
  • STAT1

Genomic Locations for ZNF483 Gene

Latest Assembly
52,978 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
52,958 bases
Plus strand

(GRCh37/hg19 by Ensembl)
52,686 bases
Plus strand

Genomic View for ZNF483 Gene

Genes around ZNF483 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF483 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF483 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF483 Gene

Proteins for ZNF483 Gene

  • Protein details for ZNF483 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 483
    Protein Accession:
    Secondary Accessions:
    • Q5VZN2
    • Q8NAE1

    Protein attributes for ZNF483 Gene

    744 amino acids
    Molecular mass:
    85098 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB85548.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZNF483 Gene

    Alternative splice isoforms for ZNF483 Gene


neXtProt entry for ZNF483 Gene

Post-translational modifications for ZNF483 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF483 Gene

Domains & Families for ZNF483 Gene

Gene Families for ZNF483 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF483 Gene

  • KRAB box
  • Transcriptional regulator SCAN

Suggested Antigen Peptide Sequences for ZNF483 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 483 (A7MD06_HUMAN)
  • Zinc finger protein 483 (Q5VZN3_HUMAN)
  • ZNF483 protein (Q6P088_HUMAN)
  • cDNA FLJ35492 fis, clone SMINT2008672, moderately similar to ZINC FINGER PROTEIN 191 (Q8NAE1_HUMAN)
  • Zinc finger protein with KRAB and SCAN domains 16 (ZN483_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 ZNF483: view

Function for ZNF483 Gene

Molecular function for ZNF483 Gene

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

Phenotypes From GWAS Catalog for ZNF483 Gene

Gene Ontology (GO) - Molecular Function for ZNF483 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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with ZNF483: view
genes like me logo Genes that share phenotypes with ZNF483: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF483

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF483 Gene

Localization for ZNF483 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF483 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 ZNF483 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF483 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with ZNF483: view

Pathways & Interactions for ZNF483 Gene

PathCards logo

SuperPathways for ZNF483 Gene

SuperPathway Contained pathways
1 Gene Expression
genes like me logo Genes that share pathways with ZNF483: view

Pathways by source for ZNF483 Gene

2 Reactome pathways for ZNF483 Gene

Gene Ontology (GO) - Biological Process for ZNF483 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with ZNF483: view

No data available for SIGNOR curated interactions for ZNF483 Gene

Drugs & Compounds for ZNF483 Gene

No Compound Related Data Available

Transcripts for ZNF483 Gene

mRNA/cDNA for ZNF483 Gene

10 NCBI additional mRNA sequence :
4 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 ZNF483

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF483 Gene

No ASD Table

Relevant External Links for ZNF483 Gene

GeneLoc Exon Structure for

Expression for ZNF483 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF483 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF483 Gene

This gene is overexpressed in Blymphocyte (55.3) and Frontal cortex (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF483 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF483

SOURCE GeneReport for Unigene cluster for ZNF483 Gene:


Evidence on tissue expression from TISSUES for ZNF483 Gene

  • Nervous system(4.6)
  • Intestine(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ZNF483: 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 ZNF483 Gene

Orthologs for ZNF483 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF483 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZNF483 30 31
  • 99.82 (n)
(Canis familiaris)
Mammalia ZNF483 30 31
  • 85.4 (n)
(Bos Taurus)
Mammalia ZNF483 31
  • 80 (a)
(Rattus norvegicus)
Mammalia Zfp483 30
  • 71.23 (n)
(Mus musculus)
Mammalia Zkscan16 30 17 31
  • 70.71 (n)
(Monodelphis domestica)
Mammalia ZNF483 31
  • 44 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 29 (a)
Species where no ortholog for ZNF483 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 ZNF483 Gene

Gene Tree for ZNF483 (if available)
Gene Tree for ZNF483 (if available)
Evolutionary constrained regions (ECRs) for ZNF483: view image

Paralogs for ZNF483 Gene

Paralogs for ZNF483 Gene

(451) SIMAP similar genes for ZNF483 Gene using alignment to 4 proteins:

  • ZN483_HUMAN
  • A7MD06_HUMAN
  • Q6P088_HUMAN
genes like me logo Genes that share paralogs with ZNF483: view

Variants for ZNF483 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF483 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs115758301 Likely Benign: not provided 111,570,132(+) G/A
NM_001146108.2(PTGR1):c.838C>T (p.Arg280Cys)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZNF483 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 ZNF483 Gene

Variant ID Type Subtype PubMed ID
esv2665450 CNV deletion 23128226
esv2678607 CNV deletion 23128226
esv2738936 CNV deletion 23290073
esv3545319 CNV deletion 23714750
esv3621491 CNV loss 21293372
esv3621492 CNV loss 21293372
esv4254 CNV loss 18987735
esv5602 CNV loss 19470904
nsv1054737 CNV gain 25217958
nsv478735 CNV novel sequence insertion 20440878

Variation tolerance for ZNF483 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF483 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF483 Gene

Disorders for ZNF483 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF483 Gene - From: COP

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF483

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZNF483: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF483 Gene

Publications for ZNF483 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ZNF483 Gene

Sources for ZNF483 Gene