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Aliases for ZNF713 Gene

Aliases for ZNF713 Gene

  • Zinc Finger Protein 713 2 3 5

External Ids for ZNF713 Gene

Previous GeneCards Identifiers for ZNF713 Gene

  • GC07P055755
  • GC07P055947
  • GC07P055794

Summaries for ZNF713 Gene

Entrez Gene Summary for ZNF713 Gene

  • The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals a CGG-repeat expansion mutation has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Feb 2015]

GeneCards Summary for ZNF713 Gene

ZNF713 (Zinc Finger Protein 713) is a Protein Coding gene. Diseases associated with ZNF713 include Autistic Disorder. Among its related pathways are Gene Expression. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF514.

UniProtKB/Swiss-Prot for ZNF713 Gene

  • May be involved in transcriptional regulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF713 Gene

Genomics for ZNF713 Gene

Regulatory Elements for ZNF713 Gene

Enhancers for ZNF713 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 ZNF713 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF713 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF713 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ZNF713 gene promoter:

Genomic Location for ZNF713 Gene

Chromosome:
7
Start:
55,887,277 bp from pter
End:
55,942,225 bp from pter
Size:
54,949 bases
Orientation:
Plus strand

Genomic View for ZNF713 Gene

Genes around ZNF713 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF713 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF713 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF713 Gene

Proteins for ZNF713 Gene

  • Protein details for ZNF713 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N859-ZN713_HUMAN
    Recommended name:
    Zinc finger protein 713
    Protein Accession:
    Q8N859

    Protein attributes for ZNF713 Gene

    Size:
    430 amino acids
    Molecular mass:
    50172 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF713 Gene

Proteomics data for ZNF713 Gene at MOPED

Post-translational modifications for ZNF713 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF713 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNF713 Gene

Domains & Families for ZNF713 Gene

Gene Families for ZNF713 Gene

Protein Domains for ZNF713 Gene

Suggested Antigen Peptide Sequences for ZNF713 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N859

UniProtKB/Swiss-Prot:

ZN713_HUMAN :
  • Contains 1 KRAB domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • Contains 1 KRAB domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZNF713: view

Function for ZNF713 Gene

Molecular function for ZNF713 Gene

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

Phenotypes for ZNF713 Gene

genes like me logo Genes that share phenotypes with ZNF713: view

Animal Model Products

CRISPR Products

miRNA for ZNF713 Gene

miRTarBase miRNAs that target ZNF713

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF713 Gene

Localization for ZNF713 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF713 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZNF713 Gene COMPARTMENTS Subcellular localization image for ZNF713 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ZNF713 Gene

Pathways & Interactions for ZNF713 Gene

SuperPathways for ZNF713 Gene

Superpath Contained pathways
1 Gene Expression
genes like me logo Genes that share pathways with ZNF713: view

Pathways by source for ZNF713 Gene

2 Reactome pathways for ZNF713 Gene

Interacting Proteins for ZNF713 Gene

Gene Ontology (GO) - Biological Process for ZNF713 Gene

None

No data available for SIGNOR curated interactions for ZNF713 Gene

Drugs & Compounds for ZNF713 Gene

No Compound Related Data Available

Transcripts for ZNF713 Gene

Unigene Clusters for ZNF713 Gene

Zinc finger protein 713:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF713 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for ZNF713 Gene

GeneLoc Exon Structure for
ZNF713
ECgene alternative splicing isoforms for
ZNF713

Expression for ZNF713 Gene

mRNA expression in normal human tissues for ZNF713 Gene

SOURCE GeneReport for Unigene cluster for ZNF713 Gene Hs.660834

mRNA Expression by UniProt/SwissProt for ZNF713 Gene

Q8N859-ZN713_HUMAN
Tissue specificity: Expressed in fetal and adult brain.
genes like me logo Genes that share expression patterns with ZNF713: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ZNF713 Gene

Orthologs for ZNF713 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZNF713 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ZNF713 35
  • 88.51 (n)
  • 87.86 (a)
ZNF713 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF713 35
  • 88.45 (n)
  • 84.07 (a)
-- 36
  • 35 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ZNF713 35
  • 99.22 (n)
  • 99.07 (a)
ZNF713 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 39 (a)
OneToMany
Species with no ortholog for ZNF713:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZNF713 Gene

ENSEMBL:
Gene Tree for ZNF713 (if available)
TreeFam:
Gene Tree for ZNF713 (if available)

Paralogs for ZNF713 Gene

Paralogs for ZNF713 Gene

(444) SIMAP similar genes for ZNF713 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ZNF713: view

Variants for ZNF713 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF713 Gene

ZN713_HUMAN-Q8N859
The ZNF713 gene contains a polymorphic CGG-repeat expansion in the non-coding region: 5 to 22 repeats are found in the normal population, most frequently 7. Higher numbers of repeats (50-200 CGG) are considered as premutations, which may affect methylation and cause mitotic instability.

Sequence variations from dbSNP and Humsavar for ZNF713 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs868039 -- 55,889,694(-) GGGGT(A/T)AAAAA intron-variant
rs872294 -- 55,888,775(+) TTTAg(G/T)ccggt intron-variant
rs924900 -- 55,906,246(-) TAAAA(C/G)GAAGA intron-variant
rs6947698 -- 55,887,300(+) TCTGG(C/G)AAGGC utr-variant-5-prime
rs6947853 -- 55,887,420(+) TCGGA(A/G)CGCCG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ZNF713 Gene

Variant ID Type Subtype PubMed ID
esv2734425 CNV Deletion 23290073
esv28230 CNV Gain+Loss 19812545
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
nsv888064 CNV Gain 21882294
esv2734448 CNV Deletion 23290073
nsv365792 CNV Loss 16902084
nsv824110 CNV Loss 20364138
esv2674331 CNV Deletion 23128226

Variation tolerance for ZNF713 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF713 Gene

Human Gene Mutation Database (HGMD)
ZNF713

Disorders for ZNF713 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF713 Gene - From: GeneCards

Disorder Aliases PubMed IDs
autistic disorder
  • autism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN713_HUMAN
  • Note=A 7p11.2 folate-sensitive fragile site, FRA7A, has been identified in 2 unrelated families diagnosed with an autistic disorder. FRA7A is associated with a CGG-repeat expansion in a ZNF713 5-intron. In the first family, the expanded allele contained about 450 CGG-repeats. It showed hypermethylation and reduced ZNF713 expression. In the second family, 3 autistic siblings exhibited a heterozygous expansion of about 70 repeats, corresponding to premutations, which were partially or mosaically methylated. Mitotic instability of the premutation was observed in one affected sibling. In this family, ZNF713 tends to be up-regulated. It has been suggested that ZNF713 misregulation in the brain might be involved in the pathogenicity of autistic disorder (PubMed:25196122). {ECO:0000269 PubMed:25196122}.

Relevant External Links for ZNF713

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF713
genes like me logo Genes that share disorders with ZNF713: view

No data available for Genatlas for ZNF713 Gene

Publications for ZNF713 Gene

  1. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. (PMID: 25196122) Metsu S. … FitzPatrick D.R. (Hum. Mutat. 2014) 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3

Products for ZNF713 Gene

Sources for ZNF713 Gene

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