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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 Znf513-Related Retinitis Pigmentosa. GO annotations related to this gene include transcription regulatory region DNA binding. An important paralog of this gene is REST.

UniProtKB/Swiss-Prot for ZNF513 Gene

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

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

Regulatory Elements for ZNF513 Gene

Enhancers for ZNF513 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027090 1.6 Ensembl ENCODE dbSUPER 18.5 +287.0 286951 6.6 HNRNPUL1 FOXA2 MLX CREB3L1 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 KHK ZNF513 ABHD1 CGREF1 SLC5A6 ATRAID CAD PRR30 TCF23 PREB
GH02G027320 1.8 FANTOM5 ENCODE dbSUPER 10.4 +58.2 58189 4.2 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 ATRAID ZNF512 ENSG00000235267 DNAJC5G SLC30A3 SNX17 ZNF513 SLC5A6 EMILIN1 KHK
GH02G027353 1.2 Ensembl ENCODE 11.2 +26.7 26701 1.6 HDGF PKNOX1 ATF1 MLX CREB3L1 ARID4B DMAP1 ZNF48 SLC30A9 GATA2 MPV17 ZNF513 UCN TRIM54 NRBP1 KRTCAP3 IFT172 SLC5A6 ATRAID PREB
GH02G027049 1.2 ENCODE 11.1 +329.8 329798 3.2 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 ZNF512 KHK CAD LOC105374363 GPN1 ENSG00000272148 NRBP1 GTF3C2-AS1 GAREM2 AGBL5-IT1
GH02G027085 1.4 ENCODE dbSUPER 8.9 +293.4 293380 4.8 HDGF MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000114420 566 1401 HDGF PKNOX1 FOXA2 ARNT CREB3L1 AGO1 ZFP64 SIN3A DMAP1 ZNF2

Genomic Location for ZNF513 Gene

Chromosome:
2
Start:
27,377,231 bp from pter
End:
27,380,866 bp from pter
Size:
3,636 bases
Orientation:
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:
    Q8N8E2-ZN513_HUMAN
    Recommended name:
    Zinc finger protein 513
    Protein Accession:
    Q8N8E2
    Secondary Accessions:
    • A8K3S5
    • B7WP71
    • Q3ZCU1
    • Q68CJ1
    • Q86UZ3
    • Q8NDL8
    • Q96ML3

    Protein attributes for ZNF513 Gene

    Size:
    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.
    SequenceCaution:
    • Sequence=BAB71274.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF513 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for ZNF513 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF513 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8E2

UniProtKB/Swiss-Prot:

ZN513_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 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:0003677 DNA binding IEA,IDA 20797688
GO:0005515 protein binding IPI 25416956
GO:0044212 transcription regulatory region DNA binding IDA 20797688
GO:0046872 metal ion binding IEA --
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

Clone Products

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

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 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 IEA,IDA 20797688
genes like me logo Genes that share ontologies with ZNF513: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007601 visual perception IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for ZNF513 Gene

GeneLoc Exon Structure for
ZNF513
ECgene alternative splicing isoforms for
ZNF513

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, PaxDb, and MOPED for ZNF513 Gene



Protein tissue co-expression partners for ZNF513 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF513 Gene:

ZNF513

SOURCE GeneReport for Unigene cluster for ZNF513 Gene:

Hs.515872

mRNA Expression by UniProt/SwissProt for ZNF513 Gene:

Q8N8E2-ZN513_HUMAN
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
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ZNF513: view

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
chimpanzee
(Pan troglodytes)
Mammalia ZNF513 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ZNF513 34 35
  • 95.31 (n)
mouse
(Mus musculus)
Mammalia Zfp513 34 16 35
  • 93.4 (n)
cow
(Bos Taurus)
Mammalia ZNF513 34 35
  • 93.26 (n)
rat
(Rattus norvegicus)
Mammalia Zfp513 34
  • 93.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF513 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF513 34 35
  • 65.59 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF513 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496819 34
  • 61.09 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC568955 34
  • 59.16 (n)
znf513 35
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hb 35
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hbl-1 35
  • 7 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ZNF513 (if available)
TreeFam:
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
rs267607182 Pathogenic, Retinitis pigmentosa 58 (RP58) [MIM:613617] 27,378,156(-) GGCGC(C/T)GCATG reference, missense
rs13472 Likely benign 27,377,372(-) CTTCA(C/T)GAGCT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs112828880 Uncertain significance 27,377,911(+) GGGCA(A/G)AGGGG downstream-variant-500B, reference, synonymous-codon
rs139008988 Uncertain significance 27,378,526(+) CTGGT(A/C/T)GTGGA reference, missense
rs140620118 Uncertain significance 27,378,647(+) ACAGC(A/G)GTAGG reference, missense

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)

Relevant External Links for ZNF513 Gene

Human Gene Mutation Database (HGMD)
ZNF513
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF513

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
znf513-related retinitis pigmentosa
  • retinitis pigmentosa 58
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN513_HUMAN
  • 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)
ZNF513
Human Genome Epidemiology (HuGE) Navigator
ZNF513
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF513
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 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for ZNF513 Gene

Sources for ZNF513 Gene

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