TMEM218 Gene (Protein Coding)

Transmembrane Protein 218

GC11M125094
GIFtS:
32
See more...

Aliases for TMEM218 Gene

Aliases for TMEM218 Gene

  • Transmembrane Protein 218 2 3 4 5
  • TMEM218 5

External Ids for TMEM218 Gene

Previous GeneCards Identifiers for TMEM218 Gene

  • GC11M124472
  • GC11M124966
  • GC11M120908

Summaries for TMEM218 Gene

GeneCards Summary for TMEM218 Gene

TMEM218 (Transmembrane Protein 218) is a Protein Coding gene. Diseases associated with TMEM218 include Meckel Syndrome, Type 4 and Meckel Syndrome, Type 1.

UniProtKB/Swiss-Prot Summary for TMEM218 Gene

Additional gene information for TMEM218 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM218 Gene

Genomics for TMEM218 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TMEM218 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 TMEM218 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM218

Top Transcription factor binding sites by QIAGEN in the TMEM218 gene promoter:
  • AML1a
  • CP2
  • GCNF
  • GCNF-1
  • GCNF-2
  • GR
  • GR-alpha
  • GR-beta
  • Pbx1a
  • RORalpha1

Genomic Locations for TMEM218 Gene

Latest Assembly
chr11:125,094,389-125,111,763
(GRCh38/hg38)
Size:
17,375 bases
Orientation:
Minus strand

Previous Assembly
chr11:124,964,285-124,981,522
(GRCh37/hg19 by Entrez Gene)
Size:
17,238 bases
Orientation:
Minus strand

chr11:124,966,398-124,981,659
(GRCh37/hg19 by Ensembl)
Size:
15,262 bases
Orientation:
Minus strand

Genomic View for TMEM218 Gene

Genes around TMEM218 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM218 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM218 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TMEM218 Gene

Proteins for TMEM218 Gene

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  3. Assay products for research

  • Protein details for TMEM218 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RU14-TM218_HUMAN
    Recommended name:
    Transmembrane protein 218
    Protein Accession:
    A2RU14
    Secondary Accessions:
    • B7ZM48

    Protein attributes for TMEM218 Gene

    Size:
    115 amino acids
    Molecular mass:
    12459 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM218 Gene

Post-translational modifications for TMEM218 Gene

No Post-translational modifications

Other Protein References for TMEM218 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM218 Gene

Domains & Families for TMEM218 Gene

Gene Families for TMEM218 Gene

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

Protein Domains for TMEM218 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM218 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 218 (TM218_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A2RU14

UniProtKB/Swiss-Prot:

TM218_HUMAN :
  • Belongs to the TMEM218 family.
Family:
  • Belongs to the TMEM218 family.
genes like me logo Genes that share domains with TMEM218: view

Function for TMEM218 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TMEM218 Gene

UniProtKB/Swiss-Prot Function:
May be involved in ciliary biogenesis or function.

Phenotypes From GWAS Catalog for TMEM218 Gene

Gene Ontology (GO) - Molecular Function for TMEM218 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM218: view
genes like me logo Genes that share phenotypes with TMEM218: view

Animal Models for research

  • Taconic Biosciences Mouse Models for TMEM218

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM218

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM218 Gene

Localization for TMEM218 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM218 Gene

Membrane. Multi-pass membrane protein. Cell projection, cilium. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250 UniProtKB:Q9CQ44}.

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 TMEM218 gene
Compartment Confidence
plasma membrane 3
cytosol 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TMEM218 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TMEM218: view

Pathways & Interactions for TMEM218 Gene

PathCards logo

SuperPathways for TMEM218 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM218 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM218 Gene

Drugs & Compounds for TMEM218 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TMEM218 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for TMEM218 Gene

40 REFSEQ mRNAs :
31 NCBI additional mRNA sequence :
17 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 TMEM218

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM218 Gene

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

Relevant External Links for TMEM218 Gene

GeneLoc Exon Structure for
TMEM218

Expression for TMEM218 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM218 Gene

mRNA expression in normal human tissues for TMEM218 Gene
mRNA expression by BioGPS for TMEM218 GenemRNA expression by GTEx for TMEM218 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM218

SOURCE GeneReport for Unigene cluster for TMEM218 Gene:

Hs.7626

Evidence on tissue expression from TISSUES for TMEM218 Gene

  • Nervous system(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with TMEM218: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM218 Gene

Orthologs for TMEM218 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM218 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TMEM218 30 31
  • 99.71 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TMEM218 30 31
  • 85.51 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TMEM218 30 31
  • 83.77 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tmem218 30
  • 82.16 (n)
Mouse
(Mus musculus)
 Mammalia Tmem218 30 17 31
  • 82.16 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TMEM218 31
  • 70 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TMEM218 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tmem218 30
  • 63.69 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tmem218 30 31
  • 60.29 (n)
 OneToOne
-- 30
Species where no ortholog for TMEM218 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 TMEM218 Gene

ENSEMBL:
Gene Tree for TMEM218 (if available)
TreeFam:
Gene Tree for TMEM218 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM218: view image

Paralogs for TMEM218 Gene

No data available for Paralogs for TMEM218 Gene

Variants for TMEM218 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM218 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
983526 Pathogenic: Joubert syndrome 125,097,715(-) C/T
NM_001258244.2(TMEM218):c.239G>A (p.Arg80His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
983527 Pathogenic: Joubert syndrome; Meckel syndrome, type 4 125,097,716(-) G/A
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
983528 Pathogenic: Joubert syndrome 125,102,216(-) C/A
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
983529 Pathogenic: Meckel syndrome, type 4 125,101,239(-) G/A
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter) 		NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM218 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 TMEM218 Gene

Variant ID Type Subtype PubMed ID
esv24623 CNV loss 19812545
nsv527157 CNV loss 19592680

Variation tolerance for TMEM218 Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM218 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM218

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM218 Gene

Disorders for TMEM218 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TMEM218 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM218

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 TMEM218: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM218 Gene

Publications for TMEM218 Gene

  1. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  4. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

ExternalLinks

View latest publications for TMEM218 gene in Mastermind

Products for TMEM218 Gene

Sources for TMEM218 Gene