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

Gene ID: 157773, updated on 17-Sep-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
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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)

Genotypes

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
Molecular Biology Databases
Research Materials
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