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ZNF513 zinc finger protein 513 [ Homo sapiens (human) ]

Gene ID: 130557, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF513provided by HGNC
Official Full Name
zinc finger protein 513provided by HGNC
Primary source
HGNC:HGNC:26498
See related
Ensembl:ENSG00000163795 MIM:613598; AllianceGenome:HGNC:26498
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP58; Zfp513; HMFT0656
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 for this gene. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in testis (RPKM 9.7), prostate (RPKM 6.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2p23.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27377235..27380734, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27419630..27423129, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27600102..27603601, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:27579025-27579638 and GRCh37_chr2:27579639-27580252 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27582391-27583132 Neighboring gene GTF3C2 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27592451-27593412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27593413-27594374 Neighboring gene eukaryotic translation initiation factor 2B subunit delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27601343-27602213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11297 Neighboring gene sorting nexin 17 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27618171-27618672 Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15507 Neighboring gene nuclear receptor binding protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Li L, et al. Am J Hum Genet, 2010 Sep 10. PMID 20797688, Free PMC Article
  2. 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. Yamada S, et al. Oncogene, 2004 Aug 5. PMID 15221005
  3. Nonsyndromic Retinitis Pigmentosa Overview. Adam MP, et al. , 1993. PMID 20301590
  4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
    Title: Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
  2. 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.
    Title: A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Retinitis pigmentosa 58
MedGen: C3150879 OMIM: 613617 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32203

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
zinc finger protein 513

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028219.1 RefSeqGene

    Range
    5011..8510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201459.2 → NP_001188388.1  zinc finger protein 513 isoform 2

    See identical proteins and their annotated locations for NP_001188388.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AB075875, AK096933
    Consensus CDS
    CCDS56114.1
    UniProtKB/Swiss-Prot
    Q8N8E2
    Related
    ENSP00000384874.1, ENST00000407879.1
    Conserved Domains (3) summary
    COG5048
    Location:352 → 425
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:90 → 110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:340 → 363
    zf-H2C2_2; Zinc-finger double domain

  2. NM_144631.6 → NP_653232.3  zinc finger protein 513 isoform 1

    See identical proteins and their annotated locations for NP_653232.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI766724, BC052282, DB024976
    Consensus CDS
    CCDS1751.1
    UniProtKB/Swiss-Prot
    A8K3S5, B7WP71, Q3ZCU1, Q68CJ1, Q86UZ3, Q8N8E2, Q8NDL8, Q96ML3
    Related
    ENSP00000318373.6, ENST00000323703.11
    Conserved Domains (3) summary
    COG5048
    Location:414 → 487
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:152 → 172
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:192 → 217
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27377235..27380734 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264143.4 → XP_005264200.1  zinc finger protein 513 isoform X1

    See identical proteins and their annotated locations for XP_005264200.1

    UniProtKB/Swiss-Prot
    Q8N8E2
    Conserved Domains (3) summary
    COG5048
    Location:246 → 319
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:194 → 214
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:234 → 257
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27419630..27423129 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340542.1 → XP_054196517.1  zinc finger protein 513 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N8E2.2 GenPept UniProtKB/Swiss-Prot:Q8N8E2

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