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ZNF519 zinc finger protein 519 [ Homo sapiens (human) ]

Gene ID: 162655, updated on 23-Mar-2024

Summary

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Official Symbol
ZNF519provided by HGNC
Official Full Name
zinc finger protein 519provided by HGNC
Primary source
HGNC:HGNC:30574
See related
Ensembl:ENSG00000175322 AllianceGenome:HGNC:30574
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HsT2362
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
18p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (14071121..14132435, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (14233972..14295283, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (14071120..14132434, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904257 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:14025264-14026087 Neighboring gene NSE4 homolog A, SMC5-SMC6 complex component pseudogene Neighboring gene vomeronasal 1 receptor 73 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr18:14101594-14101761 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:14131621-14132142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9339 Neighboring gene protein phosphatase 6, regulatory subunit 2 pseudogene 1 Neighboring gene FSHD region gene 2 family member L, pseudogene

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. Screening for replication of genome-wide SNP associations in sporadic ALS. Cronin S, et al. Eur J Hum Genet, 2009 Feb. PMID 18987618, Free PMC Article
  2. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
    Title: Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Screening for replication of genome-wide SNP associations in sporadic ALS.
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

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

  • FLJ36809, FLJ42861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 519

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.

mRNA and Protein(s)

  1. NM_145287.4 → NP_660330.2  zinc finger protein 519

    See identical proteins and their annotated locations for NP_660330.2

    Status: VALIDATED

    Source sequence(s)
    AC006557, BC024227, DA525188
    Consensus CDS
    CCDS32797.1
    UniProtKB/Swiss-Prot
    Q8TB69
    Related
    ENSP00000464872.2, ENST00000590202.3
    Conserved Domains (5) summary
    smart00349
    Location:4 → 43
    KRAB; krueppel associated box
    COG5048
    Location:290 → 539
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:434 → 454
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:4 → 43
    KRAB; KRAB box
    pfam13465
    Location:502 → 527
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_033354.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006557
    Related
    ENST00000589203.5

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    14071121..14132435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    14233972..14295283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TB69.2 GenPept UniProtKB/Swiss-Prot:Q8TB69

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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