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    C5orf52 chromosome 5 open reading frame 52 [ Homo sapiens (human) ]

    Gene ID: 100190949, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C5orf52provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 52provided by HGNC
    Primary source
    HGNC:HGNC:35121
    See related
    Ensembl:ENSG00000187658 AllianceGenome:HGNC:35121
    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
    Biased expression in testis (RPKM 8.9), colon (RPKM 1.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C5orf52 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157670941..157680158)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (158189985..158199183)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157098541..157107166)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 390, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23527 Neighboring gene SRY-box transcription factor 30 Neighboring gene uncharacterized LOC105377675 Neighboring gene Sharpr-MPRA regulatory region 8057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:157098206-157098763 Neighboring gene Sharpr-MPRA regulatory region 5199 Neighboring gene uncharacterized LOC105377676 Neighboring gene SOX30 pseudogene 1

    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. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    2. 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

    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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    Markers

    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C5orf52

    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_001145132.2 → NP_001138604.1  uncharacterized protein C5orf52

      See identical proteins and their annotated locations for NP_001138604.1

      Status: VALIDATED

      Source sequence(s)
      AC008694, AI187821, BG721329
      Consensus CDS
      CCDS47329.1
      UniProtKB/Swiss-Prot
      A6NGY3
      Related
      ENSP00000387027.3, ENST00000409999.4

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157670941..157680158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534416.3 → XP_011532718.1  uncharacterized protein C5orf52 isoform X1

      See identical proteins and their annotated locations for XP_011532718.1

      UniProtKB/Swiss-Prot
      A6NGY3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      158189985..158199183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351374.1 → XP_054207349.1  uncharacterized protein C5orf52 isoform X1

      UniProtKB/Swiss-Prot
      A6NGY3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGY3.2 GenPept UniProtKB/Swiss-Prot:A6NGY3

    Gene LinkOut

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

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