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Aliases for ZNF513 Gene

Aliases for ZNF513 Gene

  • Zinc Finger Protein 513 2 3
  • RP58 3 6
  • HMFT0656 3

External Ids for ZNF513 Gene

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 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

Genomic Location for ZNF513 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZNF513 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF513 Gene

Regulatory Elements 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

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

No data available for DME Specific Peptides for ZNF513 Gene

Domains for ZNF513 Gene

Gene Families for ZNF513 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

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

Q8N8E2

UniProtKB/Swiss-Prot:

ZN513_HUMAN
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.:
    • Q8N8E2
Similarity:
  • Contains 8 C2H2-type zinc fingers.:
    • Q8N8E2
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 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

Phenotypes for ZNF513 Gene

GenomeRNAi human phenotypes for ZNF513:
genes like me logo Genes that share phenotypes with ZNF513: view

miRNA for ZNF513 Gene

miRTarBase miRNAs that target ZNF513

Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ZNF513 Gene 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 20797688
genes like me logo Genes that share ontologies with ZNF513: view

Pathways 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 for ZNF513 Gene

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
ZNF513
ECgene alternative splicing isoforms for
ZNF513

Expression for ZNF513 Gene

mRNA expression in normal human tissues for ZNF513 Gene

Integrated Proteomics: protein expression 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

Q8N8E2-ZN513_HUMAN
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 expressions 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
chimpanzee
(Pan troglodytes)
Mammalia ZNF513 35
  • 99.51 (n)
  • 99.26 (a)
ZNF513 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF513 35
  • 93.26 (n)
  • 96.47 (a)
ZNF513 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF513 35
  • 95.31 (n)
  • 97.96 (a)
ZNF513 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp513 35
  • 93.4 (n)
  • 95.37 (a)
Zfp513 16
Zfp513 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZNF513 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zfp513 35
  • 93.15 (n)
  • 95.56 (a)
chicken
(Gallus gallus)
Aves ZNF513 35
  • 65.59 (n)
  • 61.29 (a)
ZNF513 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF513 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496819 35
  • 61.09 (n)
  • 58.52 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC568955 35
  • 59.16 (n)
  • 56.01 (a)
znf513 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hb 36
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hbl-1 36
  • 7 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ZNF513 (if available)
TreeFam:
Gene Tree for ZNF513 (if available)

Paralogs for ZNF513 Gene

Paralogs for ZNF513 Gene

Selected 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 MAF
rs11555175 -- 27,378,726(+) CGGCC(A/G)CAGCG synonymous-codon, reference
rs11555176 -- 27,378,624(+) CTGCA(G/T)GCAAA synonymous-codon, reference
rs35554630 -- 27,378,976(-) AAGTG(C/T)GGAGA reference, missense, upstream-variant-2KB
rs35652129 -- 27,378,285(-) GTGAA(A/G)GGGAG missense, reference
rs61696614 -- 27,379,477(+) TCTCT(A/G)AGGCA intron-variant, upstream-variant-2KB

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

Relevant External Links for ZNF513 Gene

HapMap Linkage Disequilibrium report
ZNF513
Human Gene Mutation Database (HGMD)
ZNF513

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

Disorders for ZNF513 Gene

(1) OMIM Diseases for ZNF513 Gene (613598)

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.

(1) University of Copenhagen DISEASES for ZNF513 Gene

Relevant External Links for ZNF513

Genetic Association Database (GAD)
ZNF513
Human Genome Epidemiology (HuGE) Navigator
ZNF513
genes like me logo Genes that share disorders with ZNF513: view

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  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 48
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for ZNF513 Gene

Sources for ZNF513 Gene

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