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    C9orf152 chromosome 9 open reading frame 152 [ Homo sapiens (human) ]

    Gene ID: 401546, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C9orf152provided by HGNC
    Official Full Name
    chromosome 9 open reading frame 152provided by HGNC
    Primary source
    HGNC:HGNC:31455
    See related
    Ensembl:ENSG00000188959 AllianceGenome:HGNC:31455
    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
    Also known as
    bA470J20.2
    Expression
    Biased expression in colon (RPKM 16.0), stomach (RPKM 13.2) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C9orf152 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110199561..110208159, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122369091..122377694, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112961841..112970439, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PALM2 and AKAP2 fusion Neighboring gene uncharacterized LOC124902244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28783 Neighboring gene uncharacterized LOC105376217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969108-112969608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969609-112970109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20174 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:113019051-113020250 Neighboring gene uncharacterized LOC107987114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104724 Neighboring gene uncharacterized LOC124902246 Neighboring gene thioredoxin

    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. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
    2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) 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)

    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

    • MGC131682

    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 C9orf152

    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_001012993.3 → NP_001013011.2  uncharacterized protein C9orf152

      See identical proteins and their annotated locations for NP_001013011.2

      Status: VALIDATED

      Source sequence(s)
      AL353598
      Consensus CDS
      CCDS35102.2
      UniProtKB/Swiss-Prot
      A8MWT6, Q5JTZ5
      UniProtKB/TrEMBL
      A8K2L3
      Related
      ENSP00000383456.4, ENST00000400613.5
      Conserved Domains (1) summary
      pfam15733
      Location:39 → 154
      DUF4682; Domain of unknown function (DUF4682)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      110199561..110208159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      122369091..122377694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JTZ5.2 GenPept UniProtKB/Swiss-Prot:Q5JTZ5

    Gene LinkOut

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

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