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    CCDC9B coiled-coil domain containing 9B [ Homo sapiens (human) ]

    Gene ID: 388115, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC9Bprovided by HGNC
    Official Full Name
    coiled-coil domain containing 9Bprovided by HGNC
    Primary source
    HGNC:HGNC:33488
    See related
    Ensembl:ENSG00000188549 AllianceGenome:HGNC:33488
    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
    C15orf52
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thyroid (RPKM 12.1), heart (RPKM 11.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC9B in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40331452..40340939, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38138324..38147811, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40623653..40633140, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268152 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 10 Neighboring gene NANOG hESC enhancer GRCh37_chr15:40613053-40613570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6325 Neighboring gene InaF motif containing 2 Neighboring gene Sharpr-MPRA regulatory region 6286 Neighboring gene RNA, 5S ribosomal pseudogene 392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40628805-40629323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40632233-40633036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40635981-40636480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40636664-40637261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40637262-40637858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40646605-40647130 Neighboring gene proline, histidine and glycine rich 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6328 Neighboring gene uncharacterized LOC124903472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40655530-40656030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40656031-40656531 Neighboring gene dispatched RND transporter family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40659527-40660418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6330

    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. Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma. Freire-Benéitez V, et al. NAR Cancer, 2021 Mar. PMID 34316702, Free PMC Article
    2. ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure. Jain S, et al. Cell, 2016 Jan 28. PMID 26777405, Free PMC Article
    3. A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation. Gonzalez Quesada Y, et al. Int J Mol Sci, 2022 Sep 30. PMID 36232890, Free PMC Article
    4. Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma. Mahlokozera T, et al. Nat Commun, 2021 Nov 3. PMID 34732716, Free PMC Article
    5. Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers. Rosenbluh J, et al. Cell Syst, 2016 Sep 28. PMID 27684187, Free PMC Article

    See all (14) 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

    Homology

    Clone Names

    • FLJ43339, DKFZp686N1468

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 9B
    Names
    uncharacterized protein C15orf52

    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_207380.3 → NP_997263.3  coiled-coil domain-containing protein 9B

      Status: VALIDATED

      Source sequence(s)
      AC013356
      Consensus CDS
      CCDS10055.3
      UniProtKB/Swiss-Prot
      B9EIQ8, Q68DG9, Q6ZTM3, Q6ZU22, Q6ZUT6
      Related
      ENSP00000380670.3, ENST00000397536.7
      Conserved Domains (1) summary
      pfam15266
      Location:139 → 305
      DUF4594; Domain of unknown function (DUF4594)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40331452..40340939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38138324..38147811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUT6.1 GenPept UniProtKB/Swiss-Prot:Q6ZUT6

    Gene LinkOut

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

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