ZNF513 (zinc finger protein 513)

2014-11-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
HMFT0656,RP58,Zfp513
FUSION GENES

Other Information

Locus ID:

NCBI: 130557
MIM: 613598
HGNC: 26498
Ensembl: ENSG00000163795

Variants:

dbSNP: 130557
ClinVar: 130557
TCGA: ENSG00000163795
COSMIC: ZNF513

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163795ENST00000323703Q8N8E2
ENSG00000163795ENST00000407879Q8N8E2
ENSG00000163795ENST00000436006C9JT52

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
207976882010A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.23
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

ZNF513 (zinc finger protein 513)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76200/znf513