| Tbio | Zinc finger protein 513 |
Transcriptional regulator that plays a role in retinal development and maintenance.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Variant Creutzfeldt-Jakob disease | 17 | 4.079 | 2.0 |
| Night Blindness | 39 | 3.18 | 1.6 |
| Disease | Target Count |
|---|---|
| Retinitis pigmentosa | 156 |
| Retinitis pigmentosa 58 | 1 |
| PMID | Text | |
|---|---|---|
| 20797688 | These results suggest that the ZNF513 p.C339R mutation is responsible for retinitis pigmentosa and that ZNF513 plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance. | |
| 20628086 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | |
| 19913121 | Observational study of gene-disease association. (HuGE Navigator) |
MPRRKQSHPQPVKCEGVKVDTEDSLDEGPGALVLESDLLLGQDLEFEEEEEEEEGDGNSDQLMGFERDSE 1 - 70 GDSLGARPGLPYGLSDDESGGGRALSAESEVEEPARGPGEARGERPGPACQLCGGPTGEGPCCGAGGPGG 71 - 140 GPLLPPRLLYSCRLCTFVSHYSSHLKRHMQTHSGEKPFRCGRCPYASAQLVNLTRHTRTHTGEKPYRCPH 141 - 210 CPFACSSLGNLRRHQRTHAGPPTPPCPTCGFRCCTPRPARPPSPTEQEGAVPRRPEDALLLPDLSLHVPP 211 - 280 GGASFLPDCGQLRGEGEGLCGTGSEPLPELLFPWTCRGCGQELEEGEGSRLGAAMCGRCMRGEAGGGASG 281 - 350 GPQGPSDKGFACSLCPFATHYPNHLARHMKTHSGEKPFRCARCPYASAHLDNLKRHQRVHTGEKPYKCPL 351 - 420 CPYACGNLANLKRHGRIHSGDKPFRCSLCNYSCNQSMNLKRHMLRHTGEKPFRCATCAYTTGHWDNYKRH 421 - 490 QKVHGHGGAGGPGLSASEGWAPPHSPPSVLSSRGPPALGTAGSRAVHTDSS 491 - 541 //
| PMID | Year | Title | |
|---|---|---|---|
| 25416956 | 2014 | A proteome-scale map of the human interactome network. | |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. | |
| 21406692 | 2011 | System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. | |
| 20797688 | 2010 | A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. | |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15221005 | 2004 | Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 8889548 | 1996 | Normalization and subtraction: two approaches to facilitate gene discovery. |
