Gene
ZNF513
zinc finger protein 513
- HGNC 26498(opens in a new tab)
- Ensembl gene ENSG00000163795(opens in a new tab)
- NCBI Gene 130557(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 27,377,235–27,380,734 (GRCh38)
- Exons
- 4 exons across 3.5 kb
- Protein
- 541 amino acids
- Also known as
- FLJ32203, RP58, Zfp513
- MANE Select transcript
- ENST00000323703.11NM_144631.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ZNF513 yet. The test sequences your whole genome, so your data includes it all the same.
How ZNF513 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 3.5 kb; 1,626 of those bases code for the protein.
How a genome test reads ZNF513
2
positions in ZNF513 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3.5 kb of ZNF513, introns included, not only the 2.1 kb of exons.
Traits linked to ZNF513
The Human Phenotype Ontology lists these as features of the rare conditions ZNF513 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal light- and dark-adapted electroretinogram
- Difficulties with night vision
- Loss of peripheral vision
- Macular degeneration
- Marked vision impairment
- Optic disc pallor
- Abnormal electroretinogram
- Abnormal retinal pigmentation
Show 22 more traits
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Optic disc drusen
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Decreased clarity of vision
- Photopsia
- Rod-cone dystrophy
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ZNF513 gene: zinc finger protein 513. Retrieved 17 October 2026, from https://dantelabs.com/genes/znf513
Dante Labs. ZNF513 gene: zinc finger protein 513 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/znf513
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