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    C6orf52 chromosome 6 open reading frame 52 [ Homo sapiens (human) ]

    Gene ID: 347744, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C6orf52provided by HGNC
    Official Full Name
    chromosome 6 open reading frame 52provided by HGNC
    Primary source
    HGNC:HGNC:20881
    See related
    Ensembl:ENSG00000137434 AllianceGenome:HGNC:20881
    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
    Expression
    Broad expression in testis (RPKM 2.9), prostate (RPKM 1.5) and 16 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    6p24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10671422..10694891, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10539141..10562610, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10671655..10695030, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glucosaminyl (N-acetyl) transferase 2 (I blood group) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575275-10575920 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575921-10576566 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10576567-10577212 Neighboring gene Sharpr-MPRA regulatory region 5327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10582905-10583878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10585827-10586799 Neighboring gene ribosomal protein L21 pseudogene 63 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10589255-10589802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10596165-10597152 Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10723303-10724199 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene transmembrane protein 14C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene TMEM14B divergent transcript

    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. 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
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in selenocysteine incorporation 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
    putative uncharacterized protein C6orf52

    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_001145020.3 → NP_001138492.1  putative uncharacterized protein C6orf52 isoform 1

      See identical proteins and their annotated locations for NP_001138492.1

      Status: VALIDATED

      Source sequence(s)
      AI376550, AI809192, AL358777, AW293245, BC016820
      Consensus CDS
      CCDS47371.1
      UniProtKB/Swiss-Prot
      Q5T4I7, Q5T4I8, Q96AS6
      Related
      ENSP00000259983.3, ENST00000259983.8

    2. NM_001354357.2 → NP_001341286.1  putative uncharacterized protein C6orf52 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AI621292, BX280692
      Consensus CDS
      CCDS87364.1
      UniProtKB/TrEMBL
      D6RAP8
      Related
      ENSP00000421837.1, ENST00000503680.1

    3. NM_001388310.1 → NP_001375239.1  putative uncharacterized protein C6orf52 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL358777
      Conserved Domains (1) summary
      pfam17654
      Location:15 → 177
      Trnau1ap; Selenocysteine tRNA 1 associated proteins

    4. NM_001388311.1 → NP_001375240.1  putative uncharacterized protein C6orf52 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL358777
      Conserved Domains (1) summary
      pfam17654
      Location:15 → 171
      Trnau1ap; Selenocysteine tRNA 1 associated proteins

    RNA

    1. NR_026737.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL358777, AW183566, BC016820

    2. NR_148536.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL358777

    3. NR_148537.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL358777
      Related
      ENST00000379586.5

    4. NR_148870.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL358777
      Related
      ENST00000467832.2

    5. NR_170935.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL358777

    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
      10671422..10694891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514572.3 → XP_011512874.1  putative uncharacterized protein C6orf52 isoform X1

    2. XM_011514574.3 → XP_011512876.1  putative uncharacterized protein C6orf52 isoform X2

    3. XM_024446422.2 → XP_024302190.1  putative uncharacterized protein C6orf52 isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654713.1 Reference GRCh38.p14 PATCHES

      Range
      182306..205775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332166.1 → XP_054188141.1  putative uncharacterized protein C6orf52 isoform X1

    2. XM_054332167.1 → XP_054188142.1  putative uncharacterized protein C6orf52 isoform X2

    3. XM_054332168.1 → XP_054188143.1  putative uncharacterized protein C6orf52 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10539141..10562610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355339.1 → XP_054211314.1  putative uncharacterized protein C6orf52 isoform X1

    2. XM_054355340.1 → XP_054211315.1  putative uncharacterized protein C6orf52 isoform X2

    3. XM_054355341.1 → XP_054211316.1  putative uncharacterized protein C6orf52 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T4I8.2 GenPept UniProtKB/Swiss-Prot:Q5T4I8

    Gene LinkOut

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

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