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    ZNF546 zinc finger protein 546 [ Homo sapiens (human) ]

    Gene ID: 339327, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF546provided by HGNC
    Official Full Name
    zinc finger protein 546provided by HGNC
    Primary source
    HGNC:HGNC:28671
    See related
    Ensembl:ENSG00000187187 AllianceGenome:HGNC:28671
    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
    ZNF49
    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 located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 3.3), thyroid (RPKM 0.9) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF546 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39997060..40021038)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42817266..42841244)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40502967..40526945)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:40477356-40478035 Neighboring gene proteasome 26S subunit, ATPase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:40502115-40502616 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:40502617-40503116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10615 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:40520495-40521694 Neighboring gene PAT1 homolog 1, processing body mRNA decay factor pseudogene Neighboring gene zinc finger protein 780B Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:40541448-40542647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14637

    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. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    2. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    3. Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability. Lü Y, et al. Mol Syst Biol, 2024 Jun. PMID 38580884, Free PMC Article
    4. BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression. Yu L, et al. Genes Dev, 2018 Dec 1. PMID 30463901, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • MGC43537

    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 546
    Names
    CTC-471F3.6
    zinc finger protein 49

    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_001297763.2 → NP_001284692.1  zinc finger protein 546 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001284692.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC007842, AF087985, AK122968, AK292528, DA217689
      Consensus CDS
      CCDS77297.1
      UniProtKB/TrEMBL
      M0QY24
      Related
      ENSP00000469540.1, ENST00000600094.5
      Conserved Domains (5) summary
      smart00349
      Location:34 → 94
      KRAB; krueppel associated box
      COG5048
      Location:357 → 797
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:557 → 577
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:34 → 73
      KRAB; KRAB box
      pfam13465
      Location:625 → 650
      zf-H2C2_2; Zinc-finger double domain

    2. NM_178544.5 → NP_848639.2  zinc finger protein 546 isoform 1

      See identical proteins and their annotated locations for NP_848639.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007842, AF087985, AK122968, AK292528, DA217689
      Consensus CDS
      CCDS12548.1
      UniProtKB/Swiss-Prot
      A8K913, Q86UE3
      Related
      ENSP00000339823.3, ENST00000347077.9
      Conserved Domains (5) summary
      smart00349
      Location:60 → 120
      KRAB; krueppel associated box
      COG5048
      Location:383 → 823
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:583 → 603
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:60 → 99
      KRAB; KRAB box
      pfam13465
      Location:651 → 676
      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
      39997060..40021038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646206.1 Reference GRCh38.p14 PATCHES

      Range
      272203..296181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42817266..42841244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UE3.2 GenPept UniProtKB/Swiss-Prot:Q86UE3

    Gene LinkOut

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

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