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

Gene ID: 90333, updated on 17-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52838010..52857619, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55922306..55941922, complement)
105.20220307 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
  • 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. 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
  2. Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15. Han T, et al. Science, 2017 Apr 28. PMID 28302793
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article
  4. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, Free PMC Article
  5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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_2023_10

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

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