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    ZNF468 zinc finger protein 468 [ Homo sapiens (human) ]

    Gene ID: 90333, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF468provided by HGNC
    Official Full Name
    zinc finger protein 468provided by HGNC
    Primary source
    HGNC:HGNC:33105
    See related
    Ensembl:ENSG00000204604 MIM:616841; AllianceGenome:HGNC:33105
    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
    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, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.6), placenta (RPKM 5.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF468 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52838010..52857619, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55922306..55941922, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53341263..53360872, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372452 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:53259364-53260079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53263091-53263641 Neighboring gene zinc finger protein 600 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:53285228-53285408 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:53287129-53287305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53289004-53289862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53289863-53290720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:53293023-53293553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53294085-53294614 Neighboring gene zinc finger protein 28 Neighboring gene PABPN1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53324831-53325332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15057 Neighboring gene zinc finger protein 320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:53379555-53380056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15059 Neighboring gene zinc finger protein 888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53425609-53426342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53426343-53427074 Neighboring gene ZNF888 antisense RNA 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 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. ZNF468 inhibits irradiation-induced G2/M cell cycle arrest and apoptosis by facilitating AURKA transcription in Esophageal Squamous Cell Carcinoma. Bai G, et al. Biochem Biophys Res Commun, 2024 Apr 9. PMID 38368674
    2. A novel zinc finger gene ZNF468 with two co-expressional splice variants, ZNF468.1 and ZNF468.2. Sun L, et al. Biochem Genet, 2005 Jun. PMID 16144304
    3. ZNF468-mediated epigenetic upregulation of VEGF-C facilitates lymphangiogenesis and lymphatic metastasis in ESCC via PI3K/Akt and ERK1/2 signaling pathways. Zhu J, et al. Cell Oncol (Dordr), 2024 Oct. PMID 39141315
    4. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    5. Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15. Han T, et al. Science, 2017 Apr 28. PMID 28302793

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF468-mediated epigenetic upregulation of VEGF-C facilitates lymphangiogenesis and lymphatic metastasis in ESCC via PI3K/Akt and ERK1/2 signaling pathways.
      Title: ZNF468-mediated epigenetic upregulation of VEGF-C facilitates lymphangiogenesis and lymphatic metastasis in ESCC via PI3K/Akt and ERK1/2 signaling pathways.
    2. ZNF468 inhibits irradiation-induced G2/M cell cycle arrest and apoptosis by facilitating AURKA transcription in Esophageal Squamous Cell Carcinoma.
      Title: ZNF468 inhibits irradiation-induced G2/M cell cycle arrest and apoptosis by facilitating AURKA transcription in Esophageal Squamous Cell Carcinoma.
    3. 2 splice variants ZNF468.1 and ZNF468.2 contain 11 C2H2-type zinc finger motifs at their C-termini. They are widely expressed in normal human tissues, except in heart and brain, and they are also co-expressional.
      Title: A novel zinc finger gene ZNF468 with two co-expressional splice variants, ZNF468.1 and ZNF468.2.
    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

    • DKFZp781B1474, DKFZp781N07108

    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 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 468
    Names
    zinc finger protein ZNF468

    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_001008801.2 → NP_001008801.1  zinc finger protein 468 isoform 2

      See identical proteins and their annotated locations for NP_001008801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AC008813, AK025501, AY442330, BC037409
      Consensus CDS
      CCDS33094.1
      UniProtKB/Swiss-Prot
      A8MV20, Q5CZB8, Q5VIY4, Q5VIY5, Q68DI7
      Related
      ENSP00000470381.1, ENST00000595646.6
      Conserved Domains (6) summary
      smart00349
      Location:8 → 48
      KRAB; krueppel associated box
      COG5048
      Location:305 → 478
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357 → 377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:299 → 321
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:313 → 338
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001277120.2 → NP_001264049.1  zinc finger protein 468 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an additional internal exon that results in a frameshifted 3' coding region, compared to variant 2. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 2.
      Source sequence(s)
      AC008813, AK025501, AY442331, BC037409
      Consensus CDS
      CCDS62781.1
      UniProtKB/Swiss-Prot
      Q5VIY5
      Related
      ENSP00000243639.4, ENST00000243639.8
      Conserved Domains (3) summary
      smart00349
      Location:8 → 49
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13900
      Location:52 → 87
      GVQW; Putative domain of unknown function

    RNA

    1. NR_102299.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes two additional internal exons, compared to variant 2. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008813, AK025501, AY442331, BC037409, DA245284

    2. NR_102300.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes two additional internal exons, compared to variant 2. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008813, AK025501, AY442331, BC037409, BX501408

    3. NR_102301.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) includes an additional exon in the 5' region, compared to variant 2. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008813, AK025501, AY442331, BC037409, DB234532

    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
      52838010..52857619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439614.1 → XP_047295570.1  zinc finger protein 468 isoform X1

    2. XM_047439615.1 → XP_047295571.1  zinc finger protein 468 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55922306..55941922 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322516.1 → XP_054178491.1  zinc finger protein 468 isoform X3

    2. XM_054322517.1 → XP_054178492.1  zinc finger protein 468 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199132.1: Suppressed sequence

      Description
      NM_199132.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VIY5.1 GenPept UniProtKB/Swiss-Prot:Q5VIY5

    Gene LinkOut

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

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