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

Gene ID: 55088, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 7.0) and 25 other tissues See more
Orthologs
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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: 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. 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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