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Aliases for ZNF513 Gene

Aliases for ZNF513 Gene

  • Zinc Finger Protein 513 2 3 5
  • HMFT0656 3
  • RP58 3

External Ids for ZNF513 Gene

Previous GeneCards Identifiers for ZNF513 Gene

  • GC02M027574
  • GC02M027511
  • GC02M027455
  • GC02M027600

Summaries for ZNF513 Gene

Entrez Gene Summary for ZNF513 Gene

  • The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for ZNF513 Gene

ZNF513 (Zinc Finger Protein 513) is a Protein Coding gene. Diseases associated with ZNF513 include Retinitis Pigmentosa 58 and Retinitis Pigmentosa. GO annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is ZNF142.

UniProtKB/Swiss-Prot for ZNF513 Gene

  • Transcriptional regulator that plays a role in retinal development and maintenance.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF513 Gene

Genomics for ZNF513 Gene

Regulatory Elements for ZNF513 Gene

Enhancers for ZNF513 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ZNF513 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF513 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF513 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF513 Gene

27,377,231 bp from pter
27,380,866 bp from pter
3,636 bases
Minus strand

Genomic View for ZNF513 Gene

Genes around ZNF513 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF513 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF513 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF513 Gene

Proteins for ZNF513 Gene

  • Protein details for ZNF513 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 513
    Protein Accession:
    Secondary Accessions:
    • A8K3S5
    • B7WP71
    • Q3ZCU1
    • Q68CJ1
    • Q86UZ3
    • Q8NDL8
    • Q96ML3

    Protein attributes for ZNF513 Gene

    541 amino acids
    Molecular mass:
    57882 Da
    Quaternary structure:
    • Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and OPN1SW.
    • Sequence=BAB71274.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF513 Gene


neXtProt entry for ZNF513 Gene

Proteomics data for ZNF513 Gene at MOPED

Post-translational modifications for ZNF513 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF513 Gene

Antibody Products

No data available for DME Specific Peptides for ZNF513 Gene

Domains & Families for ZNF513 Gene

Gene Families for ZNF513 Gene

Protein Domains for ZNF513 Gene

Suggested Antigen Peptide Sequences for ZNF513 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 8 C2H2-type zinc fingers.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 8 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF513: view

Function for ZNF513 Gene

Molecular function for ZNF513 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that plays a role in retinal development and maintenance.

Gene Ontology (GO) - Molecular Function for ZNF513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044212 transcription regulatory region DNA binding IDA 20797688
genes like me logo Genes that share ontologies with ZNF513: view
genes like me logo Genes that share phenotypes with ZNF513: view

Human Phenotype Ontology for ZNF513 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ZNF513 Gene

miRTarBase miRNAs that target ZNF513

Transcription Factor Targets for ZNF513 Gene

Selected GeneGlobe predicted Target genes for ZNF513

No data available for Enzyme Numbers (IUBMB) , Animal Models and HOMER Transcription for ZNF513 Gene

Localization for ZNF513 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF513 Gene

Subcellular locations from

Jensen Localization Image for ZNF513 Gene COMPARTMENTS Subcellular localization image for ZNF513 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for ZNF513 Gene

Pathways & Interactions for ZNF513 Gene

SuperPathways for ZNF513 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050896 response to stimulus IEA --
GO:0060041 retina development in camera-type eye IMP 20797688
genes like me logo Genes that share ontologies with ZNF513: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF513 Gene

Drugs & Compounds for ZNF513 Gene

No Compound Related Data Available

Transcripts for ZNF513 Gene

Unigene Clusters for ZNF513 Gene

Zinc finger protein 513:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF513 Gene

No ASD Table

Relevant External Links for ZNF513 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZNF513 Gene

mRNA expression in normal human tissues for ZNF513 Gene

Protein differential expression in normal tissues from HIPED for ZNF513 Gene

This gene is overexpressed in Cerebrospinal fluid (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZNF513 Gene

SOURCE GeneReport for Unigene cluster for ZNF513 Gene Hs.515872

mRNA Expression by UniProt/SwissProt for ZNF513 Gene

Tissue specificity: In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer.
genes like me logo Genes that share expression patterns with ZNF513: view

Protein tissue co-expression partners for ZNF513 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZNF513 Gene

Orthologs for ZNF513 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF513 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ZNF513 35
  • 93.26 (n)
  • 96.47 (a)
ZNF513 36
  • 96 (a)
(Canis familiaris)
Mammalia ZNF513 35
  • 95.31 (n)
  • 97.96 (a)
ZNF513 36
  • 97 (a)
(Mus musculus)
Mammalia Zfp513 35
  • 93.4 (n)
  • 95.37 (a)
Zfp513 16
Zfp513 36
  • 95 (a)
(Pan troglodytes)
Mammalia ZNF513 35
  • 99.51 (n)
  • 99.26 (a)
ZNF513 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Zfp513 35
  • 93.15 (n)
  • 95.56 (a)
(Monodelphis domestica)
Mammalia ZNF513 36
  • 91 (a)
(Gallus gallus)
Aves ZNF513 35
  • 65.59 (n)
  • 61.29 (a)
ZNF513 36
  • 56 (a)
(Anolis carolinensis)
Reptilia ZNF513 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496819 35
  • 61.09 (n)
  • 58.52 (a)
(Danio rerio)
Actinopterygii LOC568955 35
  • 59.16 (n)
  • 56.01 (a)
znf513 36
  • 45 (a)
fruit fly
(Drosophila melanogaster)
Insecta hb 36
  • 8 (a)
(Caenorhabditis elegans)
Secernentea hbl-1 36
  • 7 (a)
Species with no ortholog for ZNF513:
  • 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)
  • 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 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)

Evolution for ZNF513 Gene

Gene Tree for ZNF513 (if available)
Gene Tree for ZNF513 (if available)

Paralogs for ZNF513 Gene

Paralogs for ZNF513 Gene

(18) SIMAP similar genes for ZNF513 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ZNF513: view

Variants for ZNF513 Gene

Sequence variations from dbSNP and Humsavar for ZNF513 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_064926 Retinitis pigmentosa 58 (RP58)
rs11555175 -- 27,378,726(+) CGGCC(A/G)CAGCG reference, synonymous-codon
rs11555176 -- 27,378,624(+) CTGCA(G/T)GCAAA reference, synonymous-codon
rs35554630 -- 27,378,976(-) AAGTG(C/T)GGAGA reference, missense, utr-variant-5-prime
rs35652129 -- 27,378,285(-) GTGAA(A/G)GGGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ZNF513 Gene

Variant ID Type Subtype PubMed ID
nsv873754 CNV Loss 21882294
nsv833614 CNV Gain 17160897
dgv4072n71 CNV Loss 21882294
nsv873757 CNV Loss 21882294

Variation tolerance for ZNF513 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF513 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF513 Gene

Disorders for ZNF513 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF513 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 58
  • rp58
retinitis pigmentosa
  • retinitis pigmentosa 1
znf513-related retinitis pigmentosa
  • retinitis pigmentosa 58
- elite association - COSMIC cancer census association via MalaCards


  • Retinitis pigmentosa 58 (RP58) [MIM:613617]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:20797688}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF513

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ZNF513: view

No data available for Genatlas for ZNF513 Gene

Publications for ZNF513 Gene

  1. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. (PMID: 20797688) Li L. … Hejtmancik J.F. (Am. J. Hum. Genet. 2010) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3

Products for ZNF513 Gene

Sources for ZNF513 Gene