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    ZNF292 zinc finger protein 292 [ Homo sapiens (human) ]

    Gene ID: 23036, updated on 5-May-2024

    Summary

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    Official Symbol
    ZNF292provided by HGNC
    Official Full Name
    zinc finger protein 292provided by HGNC
    Primary source
    HGNC:HGNC:18410
    See related
    Ensembl:ENSG00000188994 MIM:616213; AllianceGenome:HGNC:18410
    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
    MRD63; MRD64; ZN-16; Zn-15; ZFP292; Nbla00365; bA393I2.3
    Summary
    This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.8), ovary (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF292 in Genome Data Viewer
    Location:
    6q14.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87155565..87265943)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88363412..88474756)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (87865283..87975661)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene reticulocalbin 1 pseudogene 1 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:87861807-87862307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:87866102-87866709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87878407-87878908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:87878909-87879408 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:87881659-87882500 Neighboring gene RNA polymerase I subunit F pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:87891367-87892000 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:87919830-87920384 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:87921345-87922098 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:87922099-87922850 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:87922894-87924093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17372 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:87967235-87967761 Neighboring gene uncharacterized LOC124901356 Neighboring gene gap junction protein beta 7 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 10

    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. Locus-Conserved Circular RNA cZNF292 Controls Endothelial Cell Flow Responses. Heumüller AW, et al. Circ Res, 2022 Jan 7. PMID 34789007
    2. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Mirzaa GM, et al. Genet Med, 2020 Mar. PMID 31723249, Free PMC Article
    3. Frameshift mutations of a tumor suppressor gene ZNF292 in gastric and colorectal cancers with high microsatellite instability. Lee JH, et al. APMIS, 2016 Jul. PMID 27150435
    4. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Puente XS, et al. Nature, 2015 Oct 22. PMID 26200345
    5. Growth hormone transcription factor ZN-16 genomic coding regions are composed of a single exon and are evolutionarily conserved in mammals. Flynn MP, et al. Gene, 2006 Mar 1. PMID 16303260

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of exosomal circular RNA ZNF292 in intermittent hypoxia-induced AC16 cardiomyocytes injury.
      Title: The role of exosomal circular RNA ZNF292 in intermittent hypoxia-induced AC16 cardiomyocytes injury.
    2. Locus-Conserved Circular RNA cZNF292 Controls Endothelial Cell Flow Responses.
      Title: Locus-Conserved Circular RNA cZNF292 Controls Endothelial Cell Flow Responses.
    3. Circular RNA circZNF292 regulates H2 O2 -induced injury in human lens epithelial HLE-B3 cells depending on the regulation of the miR-222-3p/E2F3 axis.
      Title: Circular RNA circZNF292 regulates H(2) O(2) -induced injury in human lens epithelial HLE-B3 cells depending on the regulation of the miR-222-3p/E2F3 axis.
    4. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
      Title: De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    5. Based on this, the ZNF292 frameshift mutations may possibly contribute to tumorigenesis by altering its tumor suppressor gene functions in gastric and colorectal cancers.
      Title: Frameshift mutations of a tumor suppressor gene ZNF292 in gastric and colorectal cancers with high microsatellite instability.
    6. ZNF292 is a new tumor-suppressor gene with potential relevance to colorectal cancer.
      Title: Transposon mutagenesis identifies genes and evolutionary forces driving gastrointestinal tract tumor progression.
    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
    Intellectual developmental disorder, autosomal dominant 64
    MedGen: C5543067 OMIM: 619188 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2023-10-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of zinc finger protein 292 (ZNF292) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human zinc finger protein 292 (ZNF292) at amino acid residues 1770-1771 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13564, FLJ41479, KIAA0530

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific 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 positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 292
    Names
    16 zinc-finger domain protein
    putative protein product of Nbla00365

    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_054887.1 RefSeqGene

      Range
      5015..115393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351444.2 → NP_001338373.1  zinc finger protein 292 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL139274, BX112525
      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_015021.3 → NP_055836.1  zinc finger protein 292 isoform 1

      See identical proteins and their annotated locations for NP_055836.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB011102, AK123473, AK127835, AL139274, BC016386, BC063594, BX112525, BX537746, DA329523
      Consensus CDS
      CCDS47457.1
      UniProtKB/Swiss-Prot
      O60281, Q5W0B2, Q7Z3L7, Q9H8G3, Q9H8J4
      UniProtKB/TrEMBL
      J3KNV1
      Related
      ENSP00000358590.3, ENST00000369577.8
      Conserved Domains (1) summary
      sd00017
      Location:724 → 744
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87155565..87265943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418459.1 → XP_047274415.1  zinc finger protein 292 isoform X1

    2. XM_017010578.3 → XP_016866067.1  zinc finger protein 292 isoform X1

      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. XM_047418456.1 → XP_047274412.1  zinc finger protein 292 isoform X1

    4. XM_047418457.1 → XP_047274413.1  zinc finger protein 292 isoform X1

    5. XM_047418458.1 → XP_047274414.1  zinc finger protein 292 isoform X1

    6. XM_017010584.3 → XP_016866073.1  zinc finger protein 292 isoform X1

      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. XM_005248697.5 → XP_005248754.1  zinc finger protein 292 isoform X1

      See identical proteins and their annotated locations for XP_005248754.1

      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    8. XM_017010580.2 → XP_016866069.1  zinc finger protein 292 isoform X1

      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    9. XM_017010583.2 → XP_016866072.1  zinc finger protein 292 isoform X1

      UniProtKB/TrEMBL
      J3KNV1
      Conserved Domains (1) summary
      sd00017
      Location:584 → 604
      ZF_C2H2; C2H2 Zn finger [structural motif]

    10. XM_047418460.1 → XP_047274416.1  zinc finger protein 292 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88363412..88474756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354791.1 → XP_054210766.1  zinc finger protein 292 isoform X3

    2. XM_054354800.1 → XP_054210775.1  zinc finger protein 292 isoform X1

    3. XM_054354792.1 → XP_054210767.1  zinc finger protein 292 isoform X1

    4. XM_054354793.1 → XP_054210768.1  zinc finger protein 292 isoform X1

    5. XM_054354794.1 → XP_054210769.1  zinc finger protein 292 isoform X1

    6. XM_054354797.1 → XP_054210772.1  zinc finger protein 292 isoform X1

    7. XM_054354801.1 → XP_054210776.1  zinc finger protein 292 isoform X1

    8. XM_054354799.1 → XP_054210774.1  zinc finger protein 292 isoform X1

    9. XM_054354796.1 → XP_054210771.1  zinc finger protein 292 isoform X1

    10. XM_054354795.1 → XP_054210770.1  zinc finger protein 292 isoform X1

    11. XM_054354798.1 → XP_054210773.1  zinc finger protein 292 isoform X1

    12. XM_054354802.1 → XP_054210777.1  zinc finger protein 292 isoform X1

    13. XM_054354803.1 → XP_054210778.1  zinc finger protein 292 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60281.3 GenPept UniProtKB/Swiss-Prot:O60281

    Gene LinkOut

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