Identity
HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
HMFT0656,RP58,Zfp513
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 130557
MIM: 613598
HGNC: 26498
Ensembl: ENSG00000163795
Variants:
dbSNP: 130557
ClinVar: 130557
TCGA: ENSG00000163795
COSMIC: ZNF513
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163795 | ENST00000323703 | Q8N8E2 |
| ENSG00000163795 | ENST00000407879 | Q8N8E2 |
| ENSG00000163795 | ENST00000436006 | C9JT52 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37752101 | 2023 | Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. | 0 |
| 37752101 | 2023 | Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. | 0 |
| 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. | 15 |
| 20797688 | 2010 | A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. | 29 |
| 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. | 15 |
| 20797688 | 2010 | A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. | 29 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
ZNF513 (zinc finger protein 513)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/76200/znf513-(zinc-finger-protein-513)
