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Aliases for ZNF513 Gene

Aliases for ZNF513 Gene

  • Zinc Finger Protein 513 2 3 4 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. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is ZNF324.

UniProtKB/Swiss-Prot for ZNF513 Gene

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

Additional gene information for ZNF513 Gene

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

Genomics for ZNF513 Gene

GeneHancer (GH) Regulatory Elements for ZNF513 Gene

Promoters and enhancers for ZNF513 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
GH02J027378 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.5 525 3.4 SP1 ZFX SIX5 ZNF148 NKRF POLR2A MLLT1 GTF2F1 ZNF687 MAFK ZNF513 SNX17 CAD ZNF512 SUPT7L GPN1 ATRAID GC02P027377 PIR37988 PPM1G
GH02J027320 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.2 +58.2 58188 4.2 ZNF652 SP1 ZFX CTCF ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A MPV17 PIR47141 ZNF513 ATRAID SNX17 GTF3C2 CAD ENSG00000234072 GTF3C2-AS1 DNAJC5G
GH02J027662 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.8 -283.0 -283035 3 SP1 ZFX CC2D1A ELF3 MNT SIX5 NKRF POLR2A MLLT1 CEBPG SUPT7L SLC4A1AP IFT172 GTF3C2 CAD ZNF512 GPN1 NRBP1 EIF2B4 SNX17
GH02J027719 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 24.3 -339.9 -339882 2.5 ZNF473 ZSCAN21 ZNF24 MAFK TRIM24 SP7 KLF14 PRDM1 SMARCA4 FOSL2 SUPT7L CAD ZNF512 EIF2B4 GPN1 GTF3C2 ZNF513 AGBL5 GTF3C2-AS1 ENSG00000234072
GH02J027069 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 +304.4 304372 14.9 SP1 ZFX CC2D1A ELF3 MNT SIX5 ZNF148 NKRF POLR2A MLLT1 EMILIN1 OST4 CAD GTF3C2 ENSG00000234072 KHK NRBP1 SNX17 TMEM214 GPN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF513 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNF513 gene promoter:
  • AP-1
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • E47
  • Lmo2
  • Pax-4a
  • Pax-5
  • Tal-1beta

Genomic Locations for ZNF513 Gene

Genomic Locations for ZNF513 Gene
3,636 bases
Minus strand
3,560 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

Post-translational modifications for ZNF513 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF513 Gene

No data available for DME Specific Peptides for ZNF513 Gene

Domains & Families for ZNF513 Gene

Gene Families for ZNF513 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF513 Gene


Suggested Antigen Peptide Sequences for ZNF513 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 513 (ZN513_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 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.

Phenotypes From GWAS Catalog for ZNF513 Gene

Gene Ontology (GO) - Molecular Function for ZNF513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 20797688
GO:0005515 protein binding IPI 25416956
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

Inhibitory RNA Products

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

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 ZNF513 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ZNF513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 20797688
GO:0035097 colocalizes_with histone methyltransferase complex IBA 21873635
genes like me logo Genes that share ontologies with ZNF513: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNF513 Gene

Pathways & Interactions for ZNF513 Gene

PathCards logo

SuperPathways for ZNF513 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007601 visual perception IEA --
GO:0010468 regulation of gene expression IBA 21873635
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

mRNA/cDNA for ZNF513 Gene

Unigene Clusters for ZNF513 Gene

Zinc finger protein 513:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF513

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ZNF513 Gene

Protein tissue co-expression partners for ZNF513 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF513 Gene:


SOURCE GeneReport for Unigene cluster for ZNF513 Gene:


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.

Evidence on tissue expression from TISSUES for ZNF513 Gene

  • Nervous system(4.3)
  • Intestine(4.2)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF513 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ZNF513: view

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
(Pan troglodytes)
Mammalia ZNF513 35 34
  • 99.51 (n)
(Canis familiaris)
Mammalia ZNF513 35 34
  • 95.31 (n)
(Mus musculus)
Mammalia Zfp513 17 35 34
  • 93.4 (n)
(Bos Taurus)
Mammalia ZNF513 35 34
  • 93.26 (n)
(Rattus norvegicus)
Mammalia Zfp513 34
  • 93.15 (n)
(Monodelphis domestica)
Mammalia ZNF513 35
  • 91 (a)
(Gallus gallus)
Aves ZNF513 35 34
  • 65.59 (n)
(Anolis carolinensis)
Reptilia ZNF513 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496819 34
  • 61.09 (n)
(Danio rerio)
Actinopterygii LOC568955 34
  • 59.16 (n)
znf513 35
  • 45 (a)
fruit fly
(Drosophila melanogaster)
Insecta hb 35
  • 8 (a)
(Caenorhabditis elegans)
Secernentea hbl-1 35
  • 7 (a)
Species where no ortholog for ZNF513 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)
  • 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)
Evolutionary constrained regions (ECRs) for ZNF513: view image

Paralogs for ZNF513 Gene

Paralogs for ZNF513 Gene

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

  • ZN513_HUMAN
  • C9JT52_HUMAN
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 Variation AA Info Type
rs112828880 uncertain-significance, Retinitis Pigmentosa, Dominant 27,377,911(-) G/A coding_sequence_variant, synonymous_variant
rs13472 likely-benign, Retinitis Pigmentosa, Dominant 27,377,372(-) G/A 3_prime_UTR_variant
rs139008988 uncertain-significance, Retinitis Pigmentosa, Dominant 27,378,526(-) C/A/T coding_sequence_variant, missense_variant
rs140620118 uncertain-significance, Retinitis Pigmentosa, Dominant 27,378,647(-) G/A coding_sequence_variant, missense_variant
rs141337532 uncertain-significance, Retinitis Pigmentosa, Dominant 27,378,517(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv3575209 CNV gain 25503493
nsv581244 CNV loss 21841781
nsv833614 CNV gain 17160897

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)

Additional Variant Information for ZNF513 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(2) MalaCards diseases for ZNF513 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 58
  • rp58
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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.

Additional Disease Information for ZNF513

Genetic Association Database
Human Genome Epidemiology 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 JF (American journal of human genetics 2010) 2 3 4 58
  2. 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 SD … DREAM investigators (Diabetes care 2010) 3 45 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for ZNF513 Gene

Sources for ZNF513 Gene

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