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    CCDC192 coiled-coil domain containing 192 [ Homo sapiens (human) ]

    Gene ID: 728586, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CCDC192provided by HGNC
    Official Full Name
    coiled-coil domain containing 192provided by HGNC
    Primary source
    HGNC:HGNC:49566
    See related
    Ensembl:ENSG00000230561 AllianceGenome:HGNC:49566
    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
    LINC01183
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q23.2-q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127702216..127941507)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128222027..128461275)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (127039083..127277199)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16294 Neighboring gene uncharacterized LOC105379164 Neighboring gene cortexin 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127087897-127089096 Neighboring gene cullin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23036 Neighboring gene uncharacterized LOC124901059 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:127270427-127271080 Neighboring gene SLC12A2 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:127344859-127345557 Neighboring gene MPRA-validated peak5458 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23037 Neighboring gene POGLUT2 pseudogene 1 Neighboring gene solute carrier family 12 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16296 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 Neighboring gene fibrillin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127772173-127773372 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:127871608-127872538

    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. Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Ebejer JL, et al. Twin Res Hum Genet, 2013 Apr. PMID 23527680
    2. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. Potkin SG, et al. Schizophr Bull, 2009 Jan. PMID 19023125, Free PMC Article
    3. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Ahmeti KB, et al. Neurobiol Aging, 2013 Jan. PMID 22959728, Free PMC Article
    4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
    EBI GWAS Catalog
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog
    Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
    EBI GWAS Catalog

    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

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 192
    Names
    long intergenic non-protein coding RNA 1183

    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_001317938.2 → NP_001304867.2  coiled-coil domain-containing protein 192

      Status: VALIDATED

      Source sequence(s)
      AC022118, AC068658, AC113409
      Consensus CDS
      CCDS83022.2
      UniProtKB/Swiss-Prot
      P0DO97
      UniProtKB/TrEMBL
      A0A9S7N7Z0
      Related
      ENSP00000490579.2, ENST00000514853.5

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      127702216..127941507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009806.3 → XP_016865295.1  coiled-coil domain-containing protein 192 isoform X2

      UniProtKB/Swiss-Prot
      P0DO97

    2. XM_017009807.2 → XP_016865296.1  coiled-coil domain-containing protein 192 isoform X2

      UniProtKB/Swiss-Prot
      P0DO97

    3. XM_017009812.3 → XP_016865301.2  coiled-coil domain-containing protein 192 isoform X7

    4. XM_017009810.3 → XP_016865299.2  coiled-coil domain-containing protein 192 isoform X5

    5. XM_017009809.3 → XP_016865298.2  coiled-coil domain-containing protein 192 isoform X4

    6. XM_017009811.3 → XP_016865300.2  coiled-coil domain-containing protein 192 isoform X6

    7. XM_017009813.3 → XP_016865302.2  coiled-coil domain-containing protein 192 isoform X8

    8. XM_017009805.2 → XP_016865294.1  coiled-coil domain-containing protein 192 isoform X1

      UniProtKB/Swiss-Prot
      P0DO97

    9. XM_047417685.1 → XP_047273641.1  coiled-coil domain-containing protein 192 isoform X9

    10. XM_017009808.2 → XP_016865297.1  coiled-coil domain-containing protein 192 isoform X3

      UniProtKB/Swiss-Prot
      P0DO97

    RNA

    1. XR_948757.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      128222027..128461275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353401.1 → XP_054209376.1  coiled-coil domain-containing protein 192 isoform X2

    2. XM_054353402.1 → XP_054209377.1  coiled-coil domain-containing protein 192 isoform X2

    3. XM_054353407.1 → XP_054209382.1  coiled-coil domain-containing protein 192 isoform X7

    4. XM_054353405.1 → XP_054209380.1  coiled-coil domain-containing protein 192 isoform X5

    5. XM_054353404.1 → XP_054209379.1  coiled-coil domain-containing protein 192 isoform X4

    6. XM_054353406.1 → XP_054209381.1  coiled-coil domain-containing protein 192 isoform X6

    7. XM_054353408.1 → XP_054209383.1  coiled-coil domain-containing protein 192 isoform X8

    8. XM_054353400.1 → XP_054209375.1  coiled-coil domain-containing protein 192 isoform X1

    9. XM_054353409.1 → XP_054209384.1  coiled-coil domain-containing protein 192 isoform X9

    10. XM_054353403.1 → XP_054209378.1  coiled-coil domain-containing protein 192 isoform X3

    RNA

    1. XR_008487160.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DO97.1 GenPept UniProtKB/Swiss-Prot:P0DO97

    Gene LinkOut

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

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    Research Materials