Aliases for C18orf54 Gene

Aliases for C18orf54 Gene

  • Chromosome 18 Open Reading Frame 54 2 3 5
  • Lung Adenoma Susceptibility Protein 2 2 3 4
  • LAS2 2 3
  • C18orf54 5
  • MGC33382 2

External Ids for C18orf54 Gene

Previous GeneCards Identifiers for C18orf54 Gene

  • GC18P050140
  • GC18P051884
  • GC18P048741

Summaries for C18orf54 Gene

GeneCards Summary for C18orf54 Gene

C18orf54 (Chromosome 18 Open Reading Frame 54) is a Protein Coding gene. Diseases associated with C18orf54 include Lung Adenoma and Syndromic X-Linked Intellectual Disability Snyder Type.

UniProtKB/Swiss-Prot Summary for C18orf54 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C18orf54 Gene

Genomics for C18orf54 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C18orf54 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 C18orf54 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C18orf54

Top Transcription factor binding sites by QIAGEN in the C18orf54 gene promoter:
  • AML1a
  • CUTL1
  • GATA-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha2
  • SRF (504 AA)
  • STAT5A
  • TBP

Genomic Locations for C18orf54 Gene

Latest Assembly
chr18:54,357,906-54,385,218
(GRCh38/hg38)
Size:
27,313 bases
Orientation:
Plus strand

Previous Assembly
chr18:51,884,276-51,908,405
(GRCh37/hg19 by Entrez Gene)
Size:
24,130 bases
Orientation:
Plus strand

chr18:51,884,287-51,911,588
(GRCh37/hg19 by Ensembl)
Size:
27,302 bases
Orientation:
Plus strand

Genomic View for C18orf54 Gene

Genes around C18orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C18orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C18orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C18orf54 Gene

Proteins for C18orf54 Gene

  • Protein details for C18orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYD9-LAS2_HUMAN
    Recommended name:
    Lung adenoma susceptibility protein 2
    Protein Accession:
    Q8IYD9
    Secondary Accessions:
    • I7HFJ6
    • Q6MZU3
    • Q6ZTL6

    Protein attributes for C18orf54 Gene

    Size:
    372 amino acids
    Molecular mass:
    41811 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for C18orf54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C18orf54 Gene

Post-translational modifications for C18orf54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C18orf54 Gene

Domains & Families for C18orf54 Gene

Gene Families for C18orf54 Gene

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

Protein Domains for C18orf54 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C18orf54: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C18orf54 Gene

Function for C18orf54 Gene

Molecular function for C18orf54 Gene

UniProtKB/Swiss-Prot Function:
Might play a role in cell proliferation.

Phenotypes From GWAS Catalog for C18orf54 Gene

Gene Ontology (GO) - Molecular Function for C18orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with C18orf54: view

Phenotypes for C18orf54 Gene

genes like me logo Genes that share phenotypes with C18orf54: view

miRNA for C18orf54 Gene

miRTarBase miRNAs that target C18orf54

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C18orf54

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C18orf54 Gene

Localization for C18orf54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C18orf54 Gene

Secreted.

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 C18orf54 gene
Compartment Confidence
extracellular 3
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C18orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C18orf54: view

Pathways & Interactions for C18orf54 Gene

PathCards logo

SuperPathways for C18orf54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C18orf54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with C18orf54: view

No data available for Pathways by source and SIGNOR curated interactions for C18orf54 Gene

Drugs & Compounds for C18orf54 Gene

No Compound Related Data Available

Transcripts for C18orf54 Gene

mRNA/cDNA for C18orf54 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 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 C18orf54

Alternative Splicing Database (ASD) splice patterns (SP) for C18orf54 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -

Relevant External Links for C18orf54 Gene

GeneLoc Exon Structure for
C18orf54

Expression for C18orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C18orf54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for C18orf54 Gene

This gene is overexpressed in Testis (x5.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C18orf54

SOURCE GeneReport for Unigene cluster for C18orf54 Gene:

Hs.208701
genes like me logo Genes that share expression patterns with C18orf54: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , 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 C18orf54 Gene

Orthologs for C18orf54 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C18orf54 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C18H18orf54 30
  • 99.31 (n)
C18orf54 31
  • 69 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1H18orf54 30
  • 86.43 (n)
C18orf54 31
  • 54 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 4930503L19Rik 30 17 31
  • 78.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C18orf54 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C18orf54 31
  • 35 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C18orf54 31
  • 34 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C18orf54 31
  • 31 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c18orf54 30
  • 51.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34873 30
Zebrafish
(Danio rerio)
Actinopterygii C21H18orf54 31
  • 21 (a)
OneToOne
Species where no ortholog for C18orf54 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 C18orf54 Gene

ENSEMBL:
Gene Tree for C18orf54 (if available)
TreeFam:
Gene Tree for C18orf54 (if available)

Paralogs for C18orf54 Gene

(4) SIMAP similar genes for C18orf54 Gene using alignment to 2 proteins:

  • J3KRX3_HUMAN
  • J3KS56_HUMAN
genes like me logo Genes that share paralogs with C18orf54: view

No data available for Paralogs for C18orf54 Gene

Variants for C18orf54 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C18orf54 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs1657907 - p.Arg147Pro
rs16958096 - p.Cys196Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C18orf54 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 C18orf54 Gene

Variant ID Type Subtype PubMed ID
nsv828245 CNV gain 20364138

Variation tolerance for C18orf54 Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C18orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C18orf54

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C18orf54 Gene

Disorders for C18orf54 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C18orf54 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lung adenoma
  • adenoma of lung
syndromic x-linked intellectual disability snyder type
  • mental retardation, x-linked, snyder-robinson type
respiratory system benign neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C18orf54

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C18orf54: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C18orf54 Gene

Publications for C18orf54 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. 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
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for C18orf54 Gene

Sources for C18orf54 Gene