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    ZNF486 zinc finger protein 486 [ Homo sapiens (human) ]

    Gene ID: 90649, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF486provided by HGNC
    Official Full Name
    zinc finger protein 486provided by HGNC
    Primary source
    HGNC:HGNC:20807
    See related
    Ensembl:ENSG00000256229 AllianceGenome:HGNC:20807
    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
    KRBO2
    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 DNA-templated transcription. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thyroid (RPKM 2.9), urinary bladder (RPKM 1.2) and 17 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF486 in Genome Data Viewer
    Location:
    19p12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (20167214..20200488)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (20304714..20337989)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (20278023..20311297)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372310 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:20248957-20249866 Neighboring gene BCL2 interacting protein 3 pseudogene 15 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:20262293-20262842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:20262843-20263392 Neighboring gene uncharacterized LOC124904667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:20278605-20279546 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:20287067-20288056 Neighboring gene BCL2 interacting protein 3 pseudogene 16 Neighboring gene zinc finger protein 107 pseudogene Neighboring gene BCL2 interacting protein 3 pseudogene 17 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:20348494-20349004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:20349516-20350034 Neighboring gene uncharacterized LOC102724427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:20358871-20359676

    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. 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
    2. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    4. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (7) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2396

    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 DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 486
    Names
    KRAB box only protein 2
    KRAB domain only 2
    KRAB domain only protein 2

    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_052852.4 → NP_443084.2  zinc finger protein 486

      See identical proteins and their annotated locations for NP_443084.2

      Status: VALIDATED

      Source sequence(s)
      AC011447, BC027608
      Consensus CDS
      CCDS46029.1
      UniProtKB/Swiss-Prot
      Q0VG00, Q96H40
      Related
      ENSP00000335042.7, ENST00000335117.9
      Conserved Domains (5) summary
      smart00349
      Location:13 → 71
      KRAB; krueppel associated box
      COG5048
      Location:188 → 463
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:380 → 400
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:15 → 52
      KRAB; KRAB box
      pfam13465
      Location:337 → 361
      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
      20167214..20200488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      20304714..20337989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H40.4 GenPept UniProtKB/Swiss-Prot:Q96H40

    Gene LinkOut

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

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