ZNF513 (zinc finger protein 513)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130557
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 513
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF513
Synonyms (NCBI Gene) Gene synonyms aliases
HMFT0656, RP58, Zfp513
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs35554630 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, 5 prime UTR variant
rs61742428 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs199520071 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs267607182 A>G Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT001857 hsa-miR-376a-5p Luciferase reporter assay 17322061
MIRT001857 hsa-miR-376a-5p Luciferase reporter assay 17322061
MIRT2378829 hsa-miR-331-3p CLIP-seq
MIRT2378830 hsa-miR-3922-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding IDA 20797688
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0003677 Function DNA binding IDA 20797688
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613598 26498 ENSG00000163795
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N8E2
Protein name Zinc finger protein 513
Protein function Transcriptional regulator that plays a role in retinal development and maintenance.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 178 → 200 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 206 → 228 Zinc finger, C2H2 type Domain
PF13465 zf-H2C2_2 402 → 427 Domain
PF00096 zf-C2H2 444 → 466 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: In the retina, expressed in the outer and inner nuclear layers, and the ganglion cell layer. {ECO:0000269|PubMed:20797688}.
Sequence 
MPRRKQSHPQPVKCEGVKVDTEDSLDEGPGALVLESDLLLGQDLEFEEEEEEEEGDGNSD
QLMGFERDSEGDSLGARPGLPYGLSDDESGGGRALSAESEVEEPARGPGEARGERPGPAC
QLCGGPTGEGPCCGAGGPGGGPLLPPRLLYSCRLCTFVSHYSSHLKRHMQTHSGEKPFRC
GRCPYASAQLVNLTRHTRTHTGEKPYRCPHCPFACSSLGNLRRHQRTHAGPPTPPCPTCG
FRCCTPRPARPPSPTEQEGAVPRRPEDALLLPDLSLHVPPGGASFLPDCGQLRGEGEGLC
GTGSEPLPELLFPWTCRGCGQELEEGEGSRLGAAMCGRCMRGEAGGGASGGPQGPSDKGF
ACSLCPFATHYPNHLARHMKTHSGEKPFRCARCPYASAHLDNLKRHQRVHTGEKPYKCPL
CPYACGNLANLKRHGRIHSGDKPFRCSLCNYSCNQSMNLKRHMLRHTGEKPFRCATCAYT
TGHWDNYKRHQKVHGHGGAGGPGLSASEGWAPPHSPPSVLSSRGPPALGTAGSRAVHTDS
S
Sequence length 541
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Optic Atrophy optic atrophy N/A N/A ClinVar
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Retinitis Pigmentosa retinitis pigmentosa, Retinitis Pigmentosa, Dominant, retinitis pigmentosa 58 N/A N/A ClinVar, GenCC