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

Gene ID: 728586, updated on 10-Oct-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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See CCDC192 in Genome Data Viewer
Location:
5q23.2-q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127702216..127941507)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128222027..128461275)
RS_2024_09 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

Expression

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  • Project title: HPA RNA-seq normal tissues 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. 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_2024_08

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.

Molecular Biology Databases
Research Materials