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

Gene ID: 728586, updated on 23-Nov-2021

Summary

Official Symbol
CCDC192provided by HGNC
Official Full Name
coiled-coil domain containing 192provided by HGNC
Primary source
HGNC:HGNC:49566
See related
Ensembl:ENSG00000230561
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
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Genomic context

See CCDC192 in Genome Data Viewer
Location:
5q23.2-q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (127702200..127941517)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (127039083..127277199)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 1 Neighboring gene uncharacterized LOC105379164 Neighboring gene cortexin 3 Neighboring gene cullin 1 pseudogene 1 Neighboring gene SLC12A2 divergent transcript Neighboring gene uncharacterized LOC101929964 Neighboring gene solute carrier family 12 member 2 Neighboring gene POGLUT2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

General gene information

Markers

Homology

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AC022118, AC068658, AC113409
    Consensus CDS
    CCDS83022.1
    Related
    ENSP00000490579.2, ENST00000514853.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    127702200..127941517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009806.2XP_016865295.1  coiled-coil domain-containing protein 192 isoform X2

  2. XM_024446203.1XP_024301971.1  coiled-coil domain-containing protein 192 isoform X8

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

  4. XM_017009809.2XP_016865298.1  coiled-coil domain-containing protein 192 isoform X4

  5. XM_017009812.2XP_016865301.1  coiled-coil domain-containing protein 192 isoform X7

  6. XM_017009810.2XP_016865299.1  coiled-coil domain-containing protein 192 isoform X5

  7. XM_017009811.2XP_016865300.1  coiled-coil domain-containing protein 192 isoform X6

  8. XM_017009813.2XP_016865302.1  coiled-coil domain-containing protein 192 isoform X9

  9. XM_017009805.1XP_016865294.1  coiled-coil domain-containing protein 192 isoform X1

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

RNA

  1. XR_002956177.1 RNA Sequence

  2. XR_948757.3 RNA Sequence

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