Human Gene ZNF513 (ENST00000323703.11) from GENCODE V44
  Description: Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA. (from RefSeq NM_144631)
RefSeq Summary (NM_144631): 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].
Gencode Transcript: ENST00000323703.11
Gencode Gene: ENSG00000163795.14
Transcript (Including UTRs)
   Position: hg38 chr2:27,377,235-27,380,734 Size: 3,500 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr2:27,377,545-27,380,526 Size: 2,982 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:27,377,235-27,380,734)mRNA (may differ from genome)Protein (541 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger protein 513;
FUNCTION: Transcriptional regulator that plays a role in retinal development and maintenance.
SUBUNIT: Binds DNA. Can associate with the proximal promoter regions of PAX6 and SP4, and their known targets including ARR3, RHO, OPN1MW2 and OPN1SW.
TISSUE SPECIFICITY: In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer.
DISEASE: Defects in ZNF513 are the cause of retinitis pigmentosa type 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.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 8 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAB71274.1; Type=Erroneous initiation;

-  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: ZNF513
Diseases sorted by gene-association score: retinitis pigmentosa 58* (1279), znf513-related retinitis pigmentosa* (500), retinitis pigmentosa* (90)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.98 RPKM in Testis
Total median expression: 668.29 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 -121.70208-0.585 Picture PostScript Text
3' UTR -104.90310-0.338 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

ModBase Predicted Comparative 3D Structure on Q8N8E2
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  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:0005515 protein binding
GO:0044212 transcription regulatory region 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
GO:0007601 visual perception
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye

Cellular Component:
GO:0005634 nucleus

-  Descriptions from all associated GenBank mRNAs
  BC052282 - Homo sapiens zinc finger protein 513, mRNA (cDNA clone MGC:59968 IMAGE:5467936), complete cds.
AL833946 - Homo sapiens mRNA; cDNA DKFZp434E231 (from clone DKFZp434E231).
BC040650 - Homo sapiens zinc finger protein 513, mRNA (cDNA clone IMAGE:4795511), partial cds.
AB075875 - Homo sapiens mRNA for putative protein product of HMFT0656, complete cds.
AK056765 - Homo sapiens cDNA FLJ32203 fis, clone PLACE6003038, weakly similar to ZINC FINGER PROTEIN 84.
AK096933 - Homo sapiens cDNA FLJ39614 fis, clone SMINT2000176, weakly similar to ZINC FINGER PROTEIN 83.
JD395245 - Sequence 376269 from Patent EP1572962.
AK290690 - Homo sapiens cDNA FLJ76130 complete cds, highly similar to Homo sapiens zinc finger protein 513 (ZNF513), mRNA.
JD122050 - Sequence 103074 from Patent EP1572962.
JD192932 - Sequence 173956 from Patent EP1572962.
JD045503 - Sequence 26527 from Patent EP1572962.
JD080855 - Sequence 61879 from Patent EP1572962.
JD533019 - Sequence 514043 from Patent EP1572962.
JD189586 - Sequence 170610 from Patent EP1572962.
KJ895468 - Synthetic construct Homo sapiens clone ccsbBroadEn_04862 ZNF513 gene, encodes complete protein.
EU446569 - Synthetic construct Homo sapiens clone IMAGE:100069925; IMAGE:100011778; FLH257059.01L zinc finger protein 513 (ZNF513) gene, encodes complete protein.
CU690896 - Synthetic construct Homo sapiens gateway clone IMAGE:100022493 5' read ZNF513 mRNA.
JD043759 - Sequence 24783 from Patent EP1572962.
JD468539 - Sequence 449563 from Patent EP1572962.
JD273935 - Sequence 254959 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3S5, B7WP71, ENST00000323703.1, ENST00000323703.10, ENST00000323703.2, ENST00000323703.3, ENST00000323703.4, ENST00000323703.5, ENST00000323703.6, ENST00000323703.7, ENST00000323703.8, ENST00000323703.9, NM_144631, Q3ZCU1, Q68CJ1, Q86UZ3, Q8N8E2, Q8NDL8, Q96ML3, uc002rkk.1, uc002rkk.2, uc002rkk.3, uc002rkk.4, uc002rkk.5, ZN513_HUMAN
UCSC ID: ENST00000323703.11
RefSeq Accession: NM_144631
Protein: Q8N8E2 (aka ZN513_HUMAN)
CCDS: CCDS1751.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZNF513:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

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