Human Gene ZNF713 (uc003trc.1)
  Description: Homo sapiens zinc finger protein 713 (ZNF713), mRNA.
RefSeq Summary (NM_182633): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr7:55,980,328-56,008,433 Size: 28,106 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:55,980,369-56,007,699 Size: 27,331 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:55,980,328-56,008,433)mRNA (may differ from genome)Protein (430 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN713_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 713;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 5 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF713
Diseases sorted by gene-association score: autistic disorder (1)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.09 RPKM in Testis
Total median expression: 25.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.3041-0.251 Picture PostScript Text
3' UTR -308.70734-0.421 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001909 - Krueppel-associated_box
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF01352 - KRAB box
PF13912 - C2H2-type zinc finger

SCOP Domains:
48695 - Multiheme cytochromes
109640 - KRAB domain (Kruppel-associated box, Pfam 01352)
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q8N859
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC094796 - Homo sapiens zinc finger protein 713, mRNA (cDNA clone IMAGE:4373908).
BC048108 - Homo sapiens cDNA clone IMAGE:4828358, with apparent retained intron.
AK097282 - Homo sapiens cDNA FLJ39963 fis, clone SPLEN2026765, weakly similar to ZINC FINGER PROTEIN 184.
JD300229 - Sequence 281253 from Patent EP1572962.
AB464411 - Synthetic construct DNA, clone: pF1KB7387, Homo sapiens ZNF713 gene for zinc finger protein 713, without stop codon, in Flexi system.
BC146399 - Synthetic construct Homo sapiens clone IMAGE:100015088, MGC:180198 zinc finger protein 713 (ZNF713) mRNA, encodes complete protein.
BC148832 - Synthetic construct Homo sapiens clone IMAGE:100015918, MGC:183215 zinc finger protein 713 (ZNF713) mRNA, encodes complete protein.
JD314876 - Sequence 295900 from Patent EP1572962.
JD314871 - Sequence 295895 from Patent EP1572962.
JD287069 - Sequence 268093 from Patent EP1572962.
JD299096 - Sequence 280120 from Patent EP1572962.
JD566858 - Sequence 547882 from Patent EP1572962.
JD087080 - Sequence 68104 from Patent EP1572962.
JD262083 - Sequence 243107 from Patent EP1572962.
JD165236 - Sequence 146260 from Patent EP1572962.
JD542924 - Sequence 523948 from Patent EP1572962.
JD213097 - Sequence 194121 from Patent EP1572962.
JD322239 - Sequence 303263 from Patent EP1572962.
JD398657 - Sequence 379681 from Patent EP1572962.
JD071880 - Sequence 52904 from Patent EP1572962.
JD470308 - Sequence 451332 from Patent EP1572962.
JD108114 - Sequence 89138 from Patent EP1572962.
JD342219 - Sequence 323243 from Patent EP1572962.
JD094140 - Sequence 75164 from Patent EP1572962.
JD312058 - Sequence 293082 from Patent EP1572962.
JD346550 - Sequence 327574 from Patent EP1572962.
JD304419 - Sequence 285443 from Patent EP1572962.
JD504297 - Sequence 485321 from Patent EP1572962.
JD323081 - Sequence 304105 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N859 (Reactome details) participates in the following event(s):

R-HSA-975040 KRAB-ZNF / KAP Interaction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_182633, NP_872439, Q8N859, ZN713_HUMAN
UCSC ID: uc003trc.1
RefSeq Accession: NM_182633
Protein: Q8N859 (aka ZN713_HUMAN)
CCDS: CCDS34639.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_182633.1
exon count: 4CDS single in 3' UTR: no RNA size: 2065
ORF size: 1293CDS single in intron: no Alignment % ID: 99.71
txCdsPredict score: 2764.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.