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    C8orf58 chromosome 8 open reading frame 58 [ Homo sapiens (human) ]

    Gene ID: 541565, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C8orf58provided by HGNC
    Official Full Name
    chromosome 8 open reading frame 58provided by HGNC
    Primary source
    HGNC:HGNC:32233
    See related
    Ensembl:ENSG00000241852 AllianceGenome:HGNC:32233
    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 9.0), placenta (RPKM 8.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C8orf58 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22599599..22604142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22873482..22878025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22457112..22461655)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22406579-22407079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22408405-22409369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22409593-22410470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22410471-22411346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22413914-22414436 Neighboring gene sorbin and SH3 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18990 Neighboring gene Sharpr-MPRA regulatory region 12029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22421349-22422242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22429393-22430084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22430085-22430775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22431841-22432559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22435755-22436448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22439222-22439914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22442189-22442858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22447071-22448071 Neighboring gene PDZ and LIM domain 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22454615-22455362 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22455363-22456110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22458799-22459676 Neighboring gene uncharacterized LOC107986876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27082 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22462104-22462604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19003 Neighboring gene cell cycle and apoptosis regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22483969-22484602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22485870-22486503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22486504-22487136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22488646-22489180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22489181-22489715 Neighboring gene bridging integrator 3 Neighboring gene BIN3 intronic transcript 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
    • 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. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    2. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    Potential readthrough

    Included gene: PDLIM2

    Homology

    Clone Names

    • FLJ34715

    General protein information

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    Preferred Names
    uncharacterized protein C8orf58

    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_001013842.3 → NP_001013864.1  uncharacterized protein C8orf58 isoform 1

      See identical proteins and their annotated locations for NP_001013864.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC037459, AI380311, DC328974
      Consensus CDS
      CCDS34862.1
      UniProtKB/Swiss-Prot
      B4DI44, Q8NAV2
      Related
      ENSP00000289989.5, ENST00000289989.10
      Conserved Domains (1) summary
      pfam15552
      Location:73 → 364
      DUF4657; Domain of unknown function (DUF4657)

    2. NM_001198827.2 → NP_001185756.1  uncharacterized protein C8orf58 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC037459, AI380311, DC328974
      Consensus CDS
      CCDS75708.1
      UniProtKB/TrEMBL
      A0A087WX44, H7C1D1
      Related
      ENSP00000480712.1, ENST00000614574.4
      Conserved Domains (1) summary
      pfam15552
      Location:73 → 293
      DUF4657; Domain of unknown function (DUF4657)

    3. NM_173686.3 → NP_775957.2  uncharacterized protein C8orf58 isoform 2

      See identical proteins and their annotated locations for NP_775957.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC037459, AI380311, AK092034, AK295405
      Consensus CDS
      CCDS56527.1
      UniProtKB/Swiss-Prot
      Q8NAV2
      Related
      ENSP00000386265.3, ENST00000409586.7
      Conserved Domains (1) summary
      pfam15552
      Location:73 → 356
      DUF4657; Domain of unknown function (DUF4657)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22599599..22604142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22873482..22878025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NAV2.2 GenPept UniProtKB/Swiss-Prot:Q8NAV2

    Gene LinkOut

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

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