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    C19orf84 chromosome 19 open reading frame 84 [ Homo sapiens (human) ]

    Gene ID: 147646, updated on 14-Nov-2024

    Summary

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    Official Symbol
    C19orf84provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 84provided by HGNC
    Primary source
    HGNC:HGNC:27112
    See related
    Ensembl:ENSG00000262874 AllianceGenome:HGNC:27112
    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 be involved in retrotransposon silencing by piRNA-directed DNA methylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 8.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See C19orf84 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51388289..51390591, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54476920..54479222, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51891543..51893845, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904752 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:51879781-51880038 Neighboring gene natural killer cell granule protein 7 Neighboring gene lens intrinsic membrane protein 2 Neighboring gene LIM2 and SIGLEC10 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:51897116-51897712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15015 Neighboring gene NIFK pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51912204-51912704 Neighboring gene sialic acid binding Ig like lectin 10 Neighboring gene SIGLEC10 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15017

    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. C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line. Zoch A, et al. Mol Cell, 2024 Mar 21. PMID 38359823,
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
      Title: C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in transposable element silencing by piRNA-mediated DNA methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C19orf84

    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_001193623.2 → NP_001180552.1  uncharacterized protein C19orf84

      See identical proteins and their annotated locations for NP_001180552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AC008750, BC043532
      Consensus CDS
      CCDS58676.1
      UniProtKB/Swiss-Prot
      I3L1E1
      Related
      ENSP00000458772.1, ENST00000574814.2
      Conserved Domains (1) summary
      PLN02205
      Location:45 → 90
      PLN02205; alpha,alpha-trehalose-phosphate synthase [UDP-forming]

    RNA

    1. NR_126530.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008750, BC043532, BC143997

    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
      51388289..51390591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54476920..54479222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    I3L1E1.1 GenPept UniProtKB/Swiss-Prot:I3L1E1

    Gene LinkOut

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

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