Aliases for C3orf18 Gene

Aliases for C3orf18 Gene

  • Chromosome 3 Open Reading Frame 18 2 3 5
  • Uncharacterized Protein C3orf18 3 4
  • G20 2 3
  • Protein G20 4
  • C3orf18 5

External Ids for C3orf18 Gene

Summaries for C3orf18 Gene

GeneCards Summary for C3orf18 Gene

C3orf18 (Chromosome 3 Open Reading Frame 18) is a Protein Coding gene. Diseases associated with C3orf18 include Late Congenital Syphilis and Interstitial Emphysema.

Additional gene information for C3orf18 Gene

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 C3orf18 Gene

Genomics for C3orf18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C3orf18 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 C3orf18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C3orf18

Top Transcription factor binding sites by QIAGEN in the C3orf18 gene promoter:
  • AML1a
  • AP-4
  • COMP1
  • FOXD1
  • LCR-F1
  • NF-1
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • Zic3

Genomic Locations for C3orf18 Gene

Genomic Locations for C3orf18 Gene
chr3:50,558,025-50,574,835
(GRCh38/hg38)
Size:
16,811 bases
Orientation:
Minus strand
chr3:50,595,456-50,608,458
(GRCh37/hg19)
Size:
13,003 bases
Orientation:
Minus strand

Genomic View for C3orf18 Gene

Genes around C3orf18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3orf18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3orf18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3orf18 Gene

Proteins for C3orf18 Gene

  • Protein details for C3orf18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK00-CC018_HUMAN
    Recommended name:
    Uncharacterized protein C3orf18
    Protein Accession:
    Q9UK00
    Secondary Accessions:
    • C9JNP0

    Protein attributes for C3orf18 Gene

    Size:
    162 amino acids
    Molecular mass:
    17468 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C3orf18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C3orf18 Gene

Post-translational modifications for C3orf18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C3orf18 Gene

Domains & Families for C3orf18 Gene

Gene Families for C3orf18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for C3orf18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C3orf18 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93615, Homo sapiens g20 protein (LOC51161), mRNA (B2R7V1_HUMAN)
  • Protein G20 (CC018_HUMAN)
genes like me logo Genes that share domains with C3orf18: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C3orf18 Gene

Function for C3orf18 Gene

Phenotypes From GWAS Catalog for C3orf18 Gene

genes like me logo Genes that share phenotypes with C3orf18: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C3orf18

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C3orf18 Gene

Localization for C3orf18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C3orf18 Gene

Membrane. Single-pass membrane protein.

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 C3orf18 gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C3orf18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C3orf18: view

Pathways & Interactions for C3orf18 Gene

PathCards logo

SuperPathways for C3orf18 Gene

No Data Available

Interacting Proteins for C3orf18 Gene

Selected Interacting proteins: Q9UK00-CC018_HUMAN for C3orf18 Gene via IID

Symbol External ID(s) Details
SLC46A1

Gene Ontology (GO) - Biological Process for C3orf18 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C3orf18 Gene

Drugs & Compounds for C3orf18 Gene

No Compound Related Data Available

Transcripts for C3orf18 Gene

mRNA/cDNA for C3orf18 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C3orf18

Alternative Splicing Database (ASD) splice patterns (SP) for C3orf18 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - - -
SP2: - -
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7: - - - - - - -

Relevant External Links for C3orf18 Gene

GeneLoc Exon Structure for
C3orf18

Expression for C3orf18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C3orf18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C3orf18 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C3orf18 Gene



Protein tissue co-expression partners for C3orf18 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C3orf18

SOURCE GeneReport for Unigene cluster for C3orf18 Gene:

Hs.517860

Evidence on tissue expression from TISSUES for C3orf18 Gene

  • Nervous system(4.7)
  • Muscle(2.2)
  • Skin(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with C3orf18: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C3orf18 Gene

Orthologs for C3orf18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3orf18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C3H3orf18 30
  • 99.38 (n)
C3ORF18 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C22H3ORF18 31
  • 92 (a)
OneToOne
C22H3orf18 30
  • 89.92 (n)
Dog
(Canis familiaris)
Mammalia C3orf18 31
  • 91 (a)
OneToOne
C20H3orf18 30
  • 89.3 (n)
Mouse
(Mus musculus)
Mammalia 6430571L13Rik 30 17 31
  • 85.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1307461 30
  • 83.74 (n)
Oppossum
(Monodelphis domestica)
Mammalia C3orf18 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C3orf18 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C12H3ORF18 30
  • 70.09 (n)
C3orf18 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C3orf18 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732317 30
  • 68.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii C3orf18 (1 of 2) 31
  • 64 (a)
OneToMany
LOC101883575 30
  • 62.8 (n)
C6H3orf18 (2 of 2) 31
  • 47 (a)
OneToMany
Species where no ortholog for C3orf18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 C3orf18 Gene

ENSEMBL:
Gene Tree for C3orf18 (if available)
TreeFam:
Gene Tree for C3orf18 (if available)

Paralogs for C3orf18 Gene

(1) SIMAP similar genes for C3orf18 Gene using alignment to 4 proteins:

  • CC018_HUMAN
  • B2R7V1_HUMAN
  • C9IYC4_HUMAN
  • F8WCC4_HUMAN
genes like me logo Genes that share paralogs with C3orf18: view

No data available for Paralogs for C3orf18 Gene

Variants for C3orf18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C3orf18 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1034405 - p.Ala162Val
rs386598 - p.Ala8Asp

Additional dbSNP identifiers (rs#s) for C3orf18 Gene

Structural Variations from Database of Genomic Variants (DGV) for C3orf18 Gene

Variant ID Type Subtype PubMed ID
esv3584502 CNV gain 24956385
nsv460532 CNV loss 19166990
nsv460533 CNV loss 19166990
nsv590272 CNV loss 21841781
nsv590273 CNV loss 21841781

Variation tolerance for C3orf18 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C3orf18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C3orf18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C3orf18 Gene

Disorders for C3orf18 Gene

MalaCards: The human disease database

(4) MalaCards diseases for C3orf18 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C3orf18

genes like me logo Genes that share disorders with C3orf18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C3orf18 Gene

Publications for C3orf18 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  3. Host determinants of HIV-1 control in African Americans. (PMID: 20205591) Pelak K … National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology (CHAVI) (The Journal of infectious diseases 2010) 3
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3

Products for C3orf18 Gene

  • Biorbyt antibodies for C3orf18

Sources for C3orf18 Gene