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    ZNF526 zinc finger protein 526 [ Homo sapiens (human) ]

    Gene ID: 116115, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF526provided by HGNC
    Official Full Name
    zinc finger protein 526provided by HGNC
    Primary source
    HGNC:HGNC:29415
    See related
    Ensembl:ENSG00000167625 MIM:614387; AllianceGenome:HGNC:29415
    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
    DENNED
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.0), testis (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF526 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42220312..42228201)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45039686..45047575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42724464..42732353)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene POU class 2 homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42659146-42659674 Neighboring gene POU2F2 antisense RNA 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42669363-42669586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42680337-42680839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42700904-42701445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42703016-42703552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14706 Neighboring gene death effector domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42720960-42721165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42722188-42723064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42723065-42723940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42747245-42748039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42748040-42748833 Neighboring gene glycogen synthase kinase 3 alpha Neighboring gene Sharpr-MPRA regulatory region 11582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42758837-42759336 Neighboring gene ETS2 repressor factor

    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 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. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Dentici ML, et al. J Med Genet, 2022 Mar. PMID 33397746
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    3. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    5. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
      Title: Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
    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
    Dentici-Novelli neurodevelopmental syndrome
    MedGen: C5676987 OMIM: 619877 GeneReviews: Not available
    		not available

    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

    • MGC4267, KIAA1951, DKFZp762O059

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 526

    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_053183.1 RefSeqGene

      Range
      5042..12931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001314033.3 → NP_001300962.1  zinc finger protein 526

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC006486, BC013013, DA236474, DA762298, JQ313906
      Consensus CDS
      CCDS12598.1
      UniProtKB/Swiss-Prot
      B3KV29, Q69YI2, Q8TF50, Q96E24
      UniProtKB/TrEMBL
      H9ZYJ3
      Conserved Domains (3) summary
      COG5048
      Location:441 → 550
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:474 → 494
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:486 → 511
      zf-H2C2_2; Zinc-finger double domain

    2. NM_133444.3 → NP_597701.1  zinc finger protein 526

      See identical proteins and their annotated locations for NP_597701.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC006486, BC013013, DA762298, JQ313906
      Consensus CDS
      CCDS12598.1
      UniProtKB/Swiss-Prot
      B3KV29, Q69YI2, Q8TF50, Q96E24
      UniProtKB/TrEMBL
      H9ZYJ3
      Related
      ENSP00000301215.2, ENST00000301215.8
      Conserved Domains (3) summary
      COG5048
      Location:441 → 550
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:474 → 494
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:486 → 511
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      42220312..42228201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45039686..45047575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF50.2 GenPept UniProtKB/Swiss-Prot:Q8TF50

    Gene LinkOut

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

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