Entity Details

Primary name ZNF513
Entity type gene
Source Source Link

Details

PrimaryID130557
RefseqGeneNG_028219
SymbolZNF513
Namezinc finger protein 513
Chromosome2
Location2p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZN513_HUMAN

GO terms

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GOName
GO:0000976 transcription cis-regulatory region binding
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0007601 visual perception
GO:0010468 regulation of gene expression
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye

Diseases

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Disease IDSourceNameDescription
613617 OMIMRetinitis pigmentosa 58 (RP58)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
ZNF513KAT5BioGRID, IntAct25416956 details
ZNF513DNMT3ABioGRID, IntAct32296183 details
ZNF513UQCRC1IntAct32814053 details
ZNF513ZNF513BioGRID, IntAct20211142 details
ZNF513ZZZ3BioGRID, IntAct20211142 details
ZNF513ZFP64BioGRID, IntAct20211142 details
ZNF513PPARGC1BBioGRID, IntAct20211142 details
ZNF513RRBP1BioGRID, IntAct30021884 details