Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	130557
Gene name	Zinc finger protein 513
Gene symbol	ZNF513
Synonyms (NCBI Gene)	HMFT0656RP58Zfp513
Chromosome	2
Chromosome location	2p23.3
Summary	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

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

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

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
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20797688
GO:0005634	Component	Nucleus	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IMP	20797688

MIM	HGNC	e!Ensembl
613598	26498	ENSG00000163795

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

112

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinitis pigmentosa 58	Likely pathogenic	rs1683490120	RCV001196536

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs776413728	RCV005913553
Optic atrophy	Conflicting classifications of pathogenicity	rs184500376	RCV004813632
Retinal dystrophy	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs184119144, rs199625496, rs758258701, rs757327648, rs139008988, rs140620118, rs551666112, rs771856726, rs2465623965, rs374192541, rs1572654672, rs760426925, rs61740138, rs371894255, rs184500376 View all (4 more)	RCV003888033 RCV003888217 RCV003889073 RCV003889146 RCV003888790 RCV003888791 RCV003889330 RCV003890647 RCV003890648 RCV003890649 RCV003890650 RCV003890651 RCV003890040 RCV004813709 RCV004813631 RCV001074110 RCV001074109 RCV003890289 RCV003890290
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs61742428, rs35554630, rs199520071, rs13472, rs112828880, rs886055908, rs560324766, rs780603445, rs530824832, rs552236644, rs754539683, rs201047611, rs141337532, rs139008988, rs140620118 View all (34 more)	RCV001140115 RCV001140881 RCV001140878 RCV001140761 RCV001137870 RCV001140876 RCV001140764 RCV001142730 RCV001142733 RCV001142735 RCV001140763 RCV001137875 RCV001140117 RCV001140118 RCV001140121 RCV001142731 RCV001142732 RCV001142622 RCV001140122 RCV001142737 RCV001137873 RCV001140120 RCV001142623 RCV001137877 RCV001140879 RCV001140008 RCV001140758 RCV001140759 RCV001140760 RCV001140762 RCV001140765 RCV001142618 RCV001142619 RCV001142620 RCV001142621 RCV001142624 RCV001142625 RCV001137871 RCV001137872 RCV001137874 RCV001137876 RCV001140116 RCV001140119 RCV001140877 RCV001140880 RCV001140882 RCV001140883 RCV001142736 RCV001137984
Retinitis Pigmentosa, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs13472, rs112828880, rs886055908, rs560324766, rs374110410, rs780603445, rs530824832, rs552236644, rs886055910, rs754539683, rs201047611, rs141337532, rs139008988, rs140620118, rs563171952 View all (6 more)	RCV000330540 RCV000381347 RCV000404153 RCV000295557 RCV000297138 RCV000356699 RCV000366878 RCV000276964 RCV000363311 RCV000389750 RCV000291549 RCV000346511 RCV000408243 RCV000283438 RCV000403819 RCV000312227 RCV000269135 RCV000275384 RCV000326777 RCV000343262 RCV000313254
Uterine corpus endometrial carcinoma	Uncertain significance	rs201047611	RCV005896159
ZNF513-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs145897230, rs778886320, rs374112566, rs2465625005, rs368927081, rs114454524, rs184500376, rs142187881, rs148537371	RCV003908736 RCV003402878 RCV003391290 RCV003899319 RCV003968396 RCV003970624 RCV003906159 RCV003938494 RCV003393903

ZNF513 (zinc finger protein 513)