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    CCDC186 coiled-coil domain containing 186 [ Homo sapiens (human) ]

    Gene ID: 55088, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC186provided by HGNC
    Official Full Name
    coiled-coil domain containing 186provided by HGNC
    Primary source
    HGNC:HGNC:24349
    See related
    Ensembl:ENSG00000165813 MIM:619249; AllianceGenome:HGNC:24349
    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
    CCCP1; CCCP-1; C10orf118; golgin104
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC186 in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (114120862..114174220, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (115014500..115067844, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115880621..115933979, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 709, pseudogene Neighboring gene UBE2V1 pseudogene 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:115933644-115934172 Neighboring gene microRNA 2110 Neighboring gene tudor domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:115998924-115999632 Neighboring gene aurora kinase A pseudogene 2 Neighboring gene von Willebrand factor A domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations. Arrabal L, et al. Int J Mol Sci, 2023 Aug 1. PMID 37569695, Free PMC Article
    2. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Brugger M, et al. Ann Clin Transl Neurol, 2021 Jan. PMID 33259146, Free PMC Article
    3. The Secreted Protein C10orf118 Is a New Regulator of Hyaluronan Synthesis Involved in Tumour-Stroma Cross-Talk. Caon I, et al. Cancers (Basel), 2021 Mar 5. PMID 33807583, Free PMC Article
    4. SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. Hartmann TB, et al. Br J Dermatol, 2004 Feb. PMID 14996095
    5. Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs. Oduru S, et al. BMC Genomics, 2003 Jun 3. PMID 12783626, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
      Title: Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
    2. A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
      Title: A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
    Submit: New GeneRIF Correction

    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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    Homology

    Clone Names

    • FLJ10188, FLJ35301, MGC118918, MGC129699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle cytoskeletal trafficking IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 186
    Names
    CTCL tumor antigen HD-CL-01/L14-2
    CTCL tumor antigen L14-2

    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_001321829.1 → NP_001308758.1  coiled-coil domain-containing protein 186 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AI672382, AK024739, AK094498, BC030557, BC100670, BX537964
      Consensus CDS
      CCDS7587.1
      UniProtKB/Swiss-Prot
      Q2M2V6, Q3ZB81, Q6NS91, Q7RTP1, Q7Z3E2, Q8N117, Q8N3G3, Q8N6C2, Q9NWA3
      UniProtKB/TrEMBL
      E7ENY5, Q496Y1
      Related
      ENSP00000498136.1, ENST00000648613.1
      Conserved Domains (1) summary
      cl25732
      Location:208 → 594
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_018017.4 → NP_060487.2  coiled-coil domain-containing protein 186 isoform 1

      See identical proteins and their annotated locations for NP_060487.2

      Status: VALIDATED

      Source sequence(s)
      AI672382, AK024739, AK094498, AL834368, BC030557, BX537964, BX643041
      Consensus CDS
      CCDS7587.1
      UniProtKB/Swiss-Prot
      Q2M2V6, Q3ZB81, Q6NS91, Q7RTP1, Q7Z3E2, Q8N117, Q8N3G3, Q8N6C2, Q9NWA3
      UniProtKB/TrEMBL
      E7ENY5, Q496Y1
      Related
      ENSP00000358293.3, ENST00000369287.8
      Conserved Domains (1) summary
      cl25732
      Location:208 → 594
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_153249.1 → NP_694981.1  coiled-coil domain-containing protein 186 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK092620, BC030557
      Consensus CDS
      CCDS81506.1
      UniProtKB/TrEMBL
      A0A0C4DFU7
      Related
      ENSP00000358291.3, ENST00000369285.7

    RNA

    1. NR_135815.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022023, AI672382, AK024739, AK094498, BC030557, BC103504, BX537964

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      114120862..114174220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539915.4 → XP_011538217.1  coiled-coil domain-containing protein 186 isoform X1

      Conserved Domains (1) summary
      cl19219
      Location:247 → 332
      DUF342; Protein of unknown function (DUF342)

    2. XM_011539916.4 → XP_011538218.1  coiled-coil domain-containing protein 186 isoform X2

      Conserved Domains (1) summary
      cl19219
      Location:323 → 409
      DUF342; Protein of unknown function (DUF342)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      115014500..115067844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366166.1 → XP_054222141.1  coiled-coil domain-containing protein 186 isoform X1

    2. XM_054366167.1 → XP_054222142.1  coiled-coil domain-containing protein 186 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z3E2.2 GenPept UniProtKB/Swiss-Prot:Q7Z3E2

    Gene LinkOut

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

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