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    CCDC168 coiled-coil domain containing 168 [ Homo sapiens (human) ]

    Gene ID: 643677, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC168provided by HGNC
    Official Full Name
    coiled-coil domain containing 168provided by HGNC
    Primary source
    HGNC:HGNC:26851
    See related
    Ensembl:ENSG00000175820 AllianceGenome:HGNC:26851
    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
    C13orf40
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 2.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC168 in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102729367..102759072, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (101947434..101977110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103381717..103411422, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene methyltransferase 21C, AARS1 lysine Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103368105-103368334 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103407292-103407513 Neighboring gene uncharacterized LOC105370337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103425891-103426568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103426569-103427246 Neighboring gene testis expressed 30 Neighboring gene protein O-glucosyltransferase 2

    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 design of coiled-coil structures and assemblies. Woolfson DN. Adv Protein Chem, 2005. PMID 15837514
    2. Coiled coils: a highly versatile protein folding motif. Burkhard P, et al. Trends Cell Biol, 2001 Feb. PMID 11166216
    3. Proteomic profiling of the TRAF3 interactome network reveals a new role for the ER-to-Golgi transport compartments in innate immunity. van Zuylen WJ, et al. PLoS Pathog, 2012. PMID 22792062, Free PMC Article
    4. An improved smaller biotin ligase for BioID proximity labeling. Kim DI, et al. Mol Biol Cell, 2016 Apr 15. PMID 26912792, Free PMC Article
    5. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article

    See all (15) 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

    • FLJ40176, FLJ43996, DKFZp434L2319, DKFZp686P1429

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat transmembrane protein CCDC168
    Names
    coiled-coil domain-containing protein 168

    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.

    Genomic

    1. NG_053191.1 RefSeqGene

      Range
      5001..34706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146197.3 → NP_001139669.1  leucine-rich repeat transmembrane protein CCDC168

      Status: VALIDATED

      Source sequence(s)
      AL157769, AL833908
      Consensus CDS
      CCDS73596.1
      UniProtKB/Swiss-Prot
      Q8N800, Q8NDH2
      Related
      ENSP00000320232.3, ENST00000322527.4
      Conserved Domains (1) summary
      pfam15804
      Location:4631 → 4835
      CCDC168_N; Coiled-coil domain-containing protein 168

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      102729367..102759072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521106.2 → XP_011519408.1  leucine-rich repeat transmembrane protein CCDC168 isoform X1

      Conserved Domains (1) summary
      pfam15804
      Location:4591 → 4795
      CCDC168_N; Coiled-coil domain-containing protein 168

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      101947434..101977110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374860.1 → XP_054230835.1  leucine-rich repeat transmembrane protein CCDC168 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDH2.3 GenPept UniProtKB/Swiss-Prot:Q8NDH2

    Gene LinkOut

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

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