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    CCDC142 coiled-coil domain containing 142 [ Homo sapiens (human) ]

    Gene ID: 84865, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC142provided by HGNC
    Official Full Name
    coiled-coil domain containing 142provided by HGNC
    Primary source
    HGNC:HGNC:25889
    See related
    Ensembl:ENSG00000135637 AllianceGenome:HGNC:25889
    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
    Expression
    Ubiquitous expression in testis (RPKM 2.1), duodenum (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC142 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74472832..74482998, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74481399..74491562, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74699959..74710125, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11664 Neighboring gene mannosyl-oligosaccharide glucosidase Neighboring gene Sharpr-MPRA regulatory region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16061 Neighboring gene mitochondrial ribosomal protein L53 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16065 Neighboring gene tetratricopeptide repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16066 Neighboring gene ladybird homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74729628-74730252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74730253-74730878 Neighboring gene LBX2 antisense RNA 1

    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. [Novel bidirectional promoter from human genome]. Orekhova AS, et al. Mol Biol (Mosk), 2011 May-Jun. PMID 21790010
    2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    5. SARS-CoV-2-host proteome interactions for antiviral drug discovery. Liu X, et al. Mol Syst Biol, 2021 Nov. PMID 34709727, Free PMC Article

    See all (11) 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

    Potential readthrough

    Included gene: MRPL53

    Homology

    Clone Names

    • FLJ14397, FLJ90728

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 142

    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_001365575.2 → NP_001352504.1  coiled-coil domain-containing protein 142 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005041, AK027303, AK075543, BC117269, DB036151
      Consensus CDS
      CCDS92784.1
      UniProtKB/Swiss-Prot
      B7ZKV5, Q17RM4, Q8NBJ3, Q8NBV2, Q96KA7
      Related
      ENSP00000377537.3, ENST00000393965.8
      Conserved Domains (1) summary
      pfam14923
      Location:308 → 726
      CCDC142; Coiled-coil protein 142

    2. NM_032779.4 → NP_116168.3  coiled-coil domain-containing protein 142 isoform 2

      See identical proteins and their annotated locations for NP_116168.3

      Status: VALIDATED

      Source sequence(s)
      AC005041, AK075543, BC117269
      Consensus CDS
      CCDS1945.1
      UniProtKB/Swiss-Prot
      Q17RM4
      Related
      ENSP00000290418.4, ENST00000290418.4
      Conserved Domains (1) summary
      pfam14923
      Location:308 → 719
      CCDC142; Coiled-coil protein 142

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74472832..74482998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74481399..74491562 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RM4.1 GenPept UniProtKB/Swiss-Prot:Q17RM4

    Gene LinkOut

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

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