The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats 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, Jul 2016] See more...

Aliases for ZNF713 Gene

Aliases for ZNF713 Gene

  • Zinc Finger Protein 713 2 3 4 5
  • FLJ39963 2
  • ZNF713 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 from 5-22 repeats to 68-450 repeats 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, Jul 2016]

GeneCards Summary for ZNF713 Gene

ZNF713 (Zinc Finger Protein 713) is a Protein Coding gene. Diseases associated with ZNF713 include Phosphoserine Phosphatase Deficiency and Serine Deficiency. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF879.

UniProtKB/Swiss-Prot Summary for ZNF713 Gene

Additional gene information for ZNF713 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF713 Gene

Genomics for ZNF713 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF713 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J055886 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 619.9 +0.3 345 2.4 CREB1 ZNF512 RFX1 IKZF1 RCOR2 ZHX2 JUND RBFOX2 PKNOX1 POLR2A ZNF713 ENSG00000249773 CHCHD2 SUMF2 lnc-NIPSNAP2-2 NIPSNAP2
GH07J055906 Promoter 0.3 EPDnew 600.4 +18.8 18765 0.1 lnc-NIPSNAP2-1 ZNF713 NIPSNAP2 MRPS17 PSPHP1 RF00994-998 ENSG00000249773
GH07J055918 Promoter 0.3 EPDnew 600.3 +30.9 30860 0.1 RF00994-998 ZNF713 MRPS17 NIPSNAP2 lnc-NIPSNAP2-1 ENSG00000249773
GH07J055963 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.1 +77.9 77886 3.9 ARHGAP35 ZNF512 NFKBIZ CTCF POLR2A FOXA1 LARP7 PRDM1 MTA2 RBFOX2 NIPSNAP2 ZNF713 SUMF2 CHCHD2 PSPHP1 piR-41405-073 MRPS17 PSPH
GH07J055951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14 +64.8 64845 2.6 BRCA1 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 NFKBIZ KDM1A ZNF692 NIPSNAP2 MRPS17 SUMF2 CHCHD2 ZNF713 piR-41405-073 ENSG00000249773 PSPH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF713 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF713

Top Transcription factor binding sites by QIAGEN in the ZNF713 gene promoter:
  • Evi-1
  • Lmo2

Genomic Locations for ZNF713 Gene

Genomic Locations for ZNF713 Gene
chr7:55,887,456-55,942,530
(GRCh38/hg38)
Size:
55,075 bases
Orientation:
Plus strand
chr7:55,955,169-56,009,918
(GRCh37/hg19)
Size:
54,750 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

Post-translational modifications for ZNF713 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF713 Gene

No data available for DME Specific Peptides for ZNF713 Gene

Domains & Families for ZNF713 Gene

Gene Families for ZNF713 Gene

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

Protein Domains for ZNF713 Gene

InterPro:
Blocks:
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF713 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 713 (ZN713_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N859

UniProtKB/Swiss-Prot:

ZN713_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 ZNF713: view

Function for ZNF713 Gene

Molecular function for ZNF713 Gene

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

Phenotypes From GWAS Catalog for ZNF713 Gene

Gene Ontology (GO) - Molecular Function for ZNF713 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF713: view
genes like me logo Genes that share phenotypes with ZNF713: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF713

No data available for Enzyme Numbers (IUBMB) , 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
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 ZNF713 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF713 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with ZNF713: view

Pathways & Interactions for ZNF713 Gene

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

Pathways by source for ZNF713 Gene

2 Reactome pathways for ZNF713 Gene
1 KEGG pathway for ZNF713 Gene

Interacting Proteins for ZNF713 Gene

Gene Ontology (GO) - Biological Process for ZNF713 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA,IBA 21873635
genes like me logo Genes that share ontologies with ZNF713: view

No data available for SIGNOR curated interactions for ZNF713 Gene

Drugs & Compounds for ZNF713 Gene

No Compound Related Data Available

Transcripts for ZNF713 Gene

mRNA/cDNA for ZNF713 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF713

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

Expression for ZNF713 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF713 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Eye (Sensory Organs)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF713

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.

Evidence on tissue expression from TISSUES for ZNF713 Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with ZNF713: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ZNF713 30 31
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNF713 30 31
  • 88.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNF713 30
  • 88.45 (n)
-- 31
  • 35 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 39 (a)
OneToMany
Species where no ortholog for ZNF713 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF713: view image

Paralogs for ZNF713 Gene

Paralogs for ZNF713 Gene

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

  • ZN713_HUMAN
  • F8WD84_HUMAN
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.

Additional dbSNP identifiers (rs#s) for ZNF713 Gene

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

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
dgv6362n100 CNV gain 25217958
esv2674331 CNV deletion 23128226
esv2734425 CNV deletion 23290073
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3613248 CNV gain 21293372
esv3613257 CNV loss 21293372
nsv1019400 CNV gain 25217958
nsv365792 CNV deletion 16902084
nsv607034 CNV loss 21841781
nsv824110 CNV loss 20364138

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)

Additional Variant Information for ZNF713 Gene

Human Gene Mutation Database (HGMD)
ZNF713
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF713

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF713 Gene

Disorders for ZNF713 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF713 Gene - From: DISEASES

- 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}.
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 DR (Human mutation 2014) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  5. The Repeat Expansion Diseases: The dark side of DNA repair. (PMID: 26002199) Zhao XN … Usdin K (DNA repair 2015) 3

Products for ZNF713 Gene

Sources for ZNF713 Gene