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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
    NEW
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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.

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