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    C8orf48 chromosome 8 open reading frame 48 [ Homo sapiens (human) ]

    Gene ID: 157773, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C8orf48provided by HGNC
    Official Full Name
    chromosome 8 open reading frame 48provided by HGNC
    Primary source
    HGNC:HGNC:26345
    See related
    Ensembl:ENSG00000164743 AllianceGenome:HGNC:26345
    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
    Orthologs
    mouse all
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    Genomic context

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    See C8orf48 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (13566869..13568288)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (13833370..13834789)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (13424378..13425797)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene DLC1 Rho GTPase activating protein Neighboring gene uncharacterized LOC124901890 Neighboring gene RNA, 5S ribosomal pseudogene 255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101206 Neighboring gene nuclear transcription factor Y subunit gamma pseudogene Neighboring gene uncharacterized LOC102725080

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway. Lei L, et al. Life Sci, 2021 Feb 1. PMID 33309715
    2. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway.
      Title: C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C8orf48

    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_001007090.3 → NP_001007091.2  uncharacterized protein C8orf48

      Status: VALIDATED

      Source sequence(s)
      AC022832
      Consensus CDS
      CCDS47809.1
      UniProtKB/Swiss-Prot
      Q96LJ9, Q96LL4
      Related
      ENSP00000297324.4, ENST00000297324.5
      Conserved Domains (1) summary
      pfam15379
      Location:166 → 268
      DUF4606; Domain of unknown function (DUF4606)

    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
      13566869..13568288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      13833370..13834789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LL4.2 GenPept UniProtKB/Swiss-Prot:Q96LL4

    Gene LinkOut

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

    Chemical Information
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