Aliases for CCDC18 Gene

Aliases for CCDC18 Gene

  • Coiled-Coil Domain Containing 18 2 3 5
  • Coiled-Coil Domain-Containing Protein 18 3 4
  • Sarcoma Antigen NY-SAR-24 3 4
  • NY-SAR-41 2 3
  • Sarcoma Antigen NY-SAR-41 3
  • CCDC18 5

External Ids for CCDC18 Gene

Previous GeneCards Identifiers for CCDC18 Gene

  • GC01P093359
  • GC01P093418
  • GC01P093645
  • GC01P091767

Summaries for CCDC18 Gene

GeneCards Summary for CCDC18 Gene

CCDC18 (Coiled-Coil Domain Containing 18) is a Protein Coding gene. Diseases associated with CCDC18 include Joubert Syndrome 1 and Mosaic Variegated Aneuploidy Syndrome. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is CEP63.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC18 Gene

Genomics for CCDC18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC18 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC18

Top Transcription factor binding sites by QIAGEN in the CCDC18 gene promoter:
  • aMEF-2
  • c-Myb
  • CREB
  • deltaCREB
  • HSF2
  • IRF-1
  • MEF-2A
  • RFX1
  • STAT1
  • Zic3

Genomic Locations for CCDC18 Gene

Latest Assembly
chr1:93,179,802-93,279,037
(GRCh38/hg38)
Size:
99,236 bases
Orientation:
Plus strand

Previous Assembly
chr1:93,646,273-93,744,287
(GRCh37/hg19 by Entrez Gene)
Size:
98,015 bases
Orientation:
Plus strand

chr1:93,645,476-93,744,287
(GRCh37/hg19 by Ensembl)
Size:
98,812 bases
Orientation:
Plus strand

Genomic View for CCDC18 Gene

Genes around CCDC18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC18 Gene

Proteins for CCDC18 Gene

  • Protein details for CCDC18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T9S5-CCD18_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 18
    Protein Accession:
    Q5T9S5
    Secondary Accessions:
    • Q6ZU17

    Protein attributes for CCDC18 Gene

    Size:
    1454 amino acids
    Molecular mass:
    168962 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86410.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC18 Gene

Post-translational modifications for CCDC18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC18 Gene

Domains & Families for CCDC18 Gene

Gene Families for CCDC18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC18 Gene

InterPro:

Suggested Antigen Peptide Sequences for CCDC18 Gene

GenScript: Design optimal peptide antigens:
  • Sarcoma antigen NY-SAR-24 (CCD18_HUMAN)
  • Coiled-coil domain containing 18 (Q5T9S2_HUMAN)
  • Coiled-coil domain containing 18 (Q5T9S3_HUMAN)
  • Coiled-coil domain containing 18 (Q5T9S4_HUMAN)
  • CCDC18 protein (Q6PH87_HUMAN)
genes like me logo Genes that share domains with CCDC18: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC18 Gene

Function for CCDC18 Gene

Phenotypes From GWAS Catalog for CCDC18 Gene

genes like me logo Genes that share phenotypes with CCDC18: view

Animal Models for CCDC18 Gene

MGI Knock Outs for CCDC18:
  • Ccdc18 Ccdc18<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC18

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC18 Gene

Localization for CCDC18 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC18 gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC18 Gene

Pathways & Interactions for CCDC18 Gene

PathCards logo

SuperPathways for CCDC18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC18 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC18 Gene

Drugs & Compounds for CCDC18 Gene

No Compound Related Data Available

Transcripts for CCDC18 Gene

mRNA/cDNA for CCDC18 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC18

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC18 Gene

No ASD Table

Relevant External Links for CCDC18 Gene

GeneLoc Exon Structure for
CCDC18

Expression for CCDC18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC18 Gene

This gene is overexpressed in Testis (x4.5).

Protein differential expression in normal tissues from HIPED for CCDC18 Gene

This gene is overexpressed in Brain (20.8), Plasma (20.4), and Bone marrow mesenchymal stem cell (17.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC18 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC18

SOURCE GeneReport for Unigene cluster for CCDC18 Gene:

Hs.745125
genes like me logo Genes that share expression patterns with CCDC18: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC18 Gene

Orthologs for CCDC18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC18 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC18 29 30
  • 91.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC540863 29
  • 91.6 (n)
CCDC18 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc18 29
  • 87.13 (n)
Mouse
(Mus musculus)
Mammalia Ccdc18 29 16 30
  • 86.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC18 30
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC18 30
  • 31 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC18 29 30
  • 65.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC18 30
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc18 29
  • 56.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia sojo-A 29
Zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-1a11.3 29
  • 48.19 (n)
CCDC18 30
  • 33 (a)
OneToOne
Species where no ortholog for CCDC18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC18 Gene

ENSEMBL:
Gene Tree for CCDC18 (if available)
TreeFam:
Gene Tree for CCDC18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC18: view image
Alliance of Genome Resources:
Additional Orthologs for CCDC18

Paralogs for CCDC18 Gene

Paralogs for CCDC18 Gene

(1) SIMAP similar genes for CCDC18 Gene using alignment to 11 proteins:

  • CCD18_HUMAN
  • E9PDA0_HUMAN
  • E9PFB9_HUMAN
  • F5H8K2_HUMAN
  • G3V388_HUMAN
  • H0YCD6_HUMAN
  • H0YDP2_HUMAN
  • H7C0C9_HUMAN
  • J3KP97_HUMAN
  • Q5T9S2_HUMAN
  • Q6PH87_HUMAN
genes like me logo Genes that share paralogs with CCDC18: view

Variants for CCDC18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC18 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs189830464 Benign: not provided 93,210,882(+) C/T
NM_206886.4(CCDC18):c.1290C>T (p.Cys430=)
SYNONYMOUS
rs74596359 Benign: not provided 93,186,365(+) T/C
NM_206886.4(CCDC18):c.324T>C (p.Pro108=)
SYNONYMOUS
rs778057310 Likely Benign: not provided 93,226,324(+) C/T
NM_206886.4(CCDC18):c.2176-9C>T
INTRON
rs78187035 Benign: not provided 93,232,584(+) T/G
NM_206886.4(CCDC18):c.2451T>G (p.Leu817=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC18 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC18 Gene

Variant ID Type Subtype PubMed ID
esv3586825 CNV loss 21293372
esv3586826 CNV loss 21293372
nsv830614 CNV loss 17160897
nsv830625 CNV loss 17160897
nsv946080 CNV duplication 23825009
nsv946082 CNV duplication 23825009

Additional Variant Information for CCDC18 Gene

Human Gene Mutation Database (HGMD)
CCDC18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC18
Leiden Open Variation Database (LOVD)
CCDC18

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CCDC18 Gene

Disorders for CCDC18 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC18 Gene - From: COP

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
mosaic variegated aneuploidy syndrome
  • mva syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC18

genes like me logo Genes that share disorders with CCDC18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC18 Gene

Publications for CCDC18 Gene

  1. Immunomic analysis of human sarcoma. (PMID: 12601173) Lee SY … Scanlan MJ (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3
  2. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. (PMID: 31462741) Dho SE … McGlade CJ (Scientific reports 2019) 3
  3. High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies. (PMID: 29395067) Youn JY … Gingras AC (Molecular cell 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3

Products for CCDC18 Gene

Sources for CCDC18 Gene