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    ZNF219 zinc finger protein 219 [ Homo sapiens (human) ]

    Gene ID: 51222, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF219provided by HGNC
    Official Full Name
    zinc finger protein 219provided by HGNC
    Primary source
    HGNC:HGNC:13011
    See related
    Ensembl:ENSG00000165804 MIM:605036; AllianceGenome:HGNC:13011
    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
    ZFP219
    Summary
    This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in fat (RPKM 12.4), colon (RPKM 6.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21090077..21104722, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15287493..15302135, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21558236..21572881, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene uncharacterized LOC105370398 Neighboring gene ribonuclease A family member 8 Neighboring gene Rho guanine nucleotide exchange factor 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21539187-21539808 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21554944-21555488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21555489-21556031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21558438-21559283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21559284-21560128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5581 Neighboring gene Sharpr-MPRA regulatory region 8150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21565235-21565736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21566496-21566996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21571456-21572200 Neighboring gene transmembrane protein 253 Neighboring gene RNA, U6 small nuclear 252, pseudogene Neighboring gene cytoskeleton associated protein 2 pseudogene 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. ZNF219 protects human lens epithelial cells against H(2)O(2)-induced injury via targeting SOX9 through activating AKT/GSK3β pathway. Guo Q, et al. Hum Exp Toxicol, 2021 Dec. PMID 34167360
    2. Isolation and characterization of a novel zinc finger gene, ZNF219, and mapping to the human chromosome 14q11 region. Sakai T, et al. DNA Res, 2000 Apr 28. PMID 10819330
    3. Identification of the DNA binding specificity of the human ZNF219 protein and its function as a transcriptional repressor. Sakai T, et al. DNA Res, 2003 Aug 31. PMID 14621294
    4. Functional dissection of the alpha-synuclein promoter: transcriptional regulation by ZSCAN21 and ZNF219. Clough RL, et al. J Neurochem, 2009 Sep. PMID 19549071
    5. The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9. Takigawa Y, et al. J Cell Sci, 2010 Nov 1. PMID 20940257

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF219, a novel transcriptional repressor, inhibits transcription of the prototype foamy virus by interacting with the viral LTR promoter.
      Title: ZNF219, a novel transcriptional repressor, inhibits transcription of the prototype foamy virus by interacting with the viral LTR promoter.
    2. ZNF219 protects human lens epithelial cells against H2O2-induced injury via targeting SOX9 through activating AKT/GSK3beta pathway.
      Title: ZNF219 protects human lens epithelial cells against H(2)O(2)-induced injury via targeting SOX9 through activating AKT/GSK3β pathway.
    3. regulates chondrocyte differentiation as a transcriptional partner of Sox9
      Title: The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9.
    4. By using a random oligonucleotide selection assay and the electromobility gel shift assay, we have revealed that the ZNF219 protein recognizes two copies of CCCCCA.
      Title: Identification of the DNA binding specificity of the human ZNF219 protein and its function as a transcriptional repressor.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histamine receptor activity IEA
    Inferred from Electronic Annotation
    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 G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb bud formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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 219

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_053108.1 RefSeqGene

      Range
      11068..19646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001101672.2 → NP_001095142.1  zinc finger protein 219

      See identical proteins and their annotated locations for NP_001095142.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK225811, BC000694
      Consensus CDS
      CCDS9568.1
      UniProtKB/Swiss-Prot
      D3DS16, Q53Y57, Q8IYC1, Q9BW28, Q9P2Y4
      UniProtKB/TrEMBL
      A8K3T5
      Related
      ENSP00000392401.2, ENST00000421093.6
      Conserved Domains (4) summary
      sd00017
      Location:500 → 520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:500 → 520
      zf-C2H2; Zinc finger, C2H2 type
      pfam04959
      Location:304 → 408
      ARS2; Arsenite-resistance protein 2
      pfam13465
      Location:512 → 534
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001102454.2 → NP_001095924.1  zinc finger protein 219

      See identical proteins and their annotated locations for NP_001095924.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK225811, AL161668, BC000694, DA013397
      Consensus CDS
      CCDS9568.1
      UniProtKB/Swiss-Prot
      D3DS16, Q53Y57, Q8IYC1, Q9BW28, Q9P2Y4
      UniProtKB/TrEMBL
      A8K3T5
      Related
      ENSP00000388558.2, ENST00000451119.6
      Conserved Domains (4) summary
      sd00017
      Location:500 → 520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:500 → 520
      zf-C2H2; Zinc finger, C2H2 type
      pfam04959
      Location:304 → 408
      ARS2; Arsenite-resistance protein 2
      pfam13465
      Location:512 → 534
      zf-H2C2_2; Zinc-finger double domain

    3. NM_016423.3 → NP_057507.2  zinc finger protein 219

      See identical proteins and their annotated locations for NP_057507.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB015427, AL161668, BC000694, CB152705
      Consensus CDS
      CCDS9568.1
      UniProtKB/Swiss-Prot
      D3DS16, Q53Y57, Q8IYC1, Q9BW28, Q9P2Y4
      UniProtKB/TrEMBL
      A8K3T5
      Related
      ENSP00000354206.3, ENST00000360947.8
      Conserved Domains (4) summary
      sd00017
      Location:500 → 520
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:500 → 520
      zf-C2H2; Zinc finger, C2H2 type
      pfam04959
      Location:304 → 408
      ARS2; Arsenite-resistance protein 2
      pfam13465
      Location:512 → 534
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21090077..21104722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15287493..15302135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2Y4.2 GenPept UniProtKB/Swiss-Prot:Q9P2Y4

    Gene LinkOut

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

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