Aliases for TNRC18 Gene

Aliases for TNRC18 Gene

  • Trinucleotide Repeat Containing 18 2 3 5
  • Long CAG Trinucleotide Repeat-Containing Gene 79 Protein 3 4
  • Trinucleotide Repeat-Containing Gene 18 Protein 3 4
  • CAGL79 3 4
  • KIAA1856 4
  • TNRC18A 3

External Ids for TNRC18 Gene

Previous GeneCards Identifiers for TNRC18 Gene

  • GC07M004997
  • GC07M061674
  • GC07M005097
  • GC07M005120
  • GC07U901564
  • GC07M062665

Summaries for TNRC18 Gene

GeneCards Summary for TNRC18 Gene

TNRC18 (Trinucleotide Repeat Containing 18) is a Protein Coding gene. Diseases associated with TNRC18 include Atrial Septal Defect 6 and Seckel Syndrome 6. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is BAHCC1.

Additional gene information for TNRC18 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 TNRC18 Gene

Genomics for TNRC18 Gene

GeneHancer (GH) Regulatory Elements for TNRC18 Gene

Promoters and enhancers for TNRC18 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 TNRC18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNRC18

Top Transcription factor binding sites by QIAGEN in the TNRC18 gene promoter:
  • CBF(2)
  • CBF-A
  • COMP1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • PPAR-gamma2

Genomic Locations for TNRC18 Gene

Genomic Locations for TNRC18 Gene
chr7:5,306,790-5,425,414
(GRCh38/hg38)
Size:
118,625 bases
Orientation:
Minus strand
chr7:5,346,421-5,465,045
(GRCh37/hg19)
Size:
118,625 bases
Orientation:
Minus strand

Genomic View for TNRC18 Gene

Genes around TNRC18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNRC18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNRC18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNRC18 Gene

Proteins for TNRC18 Gene

  • Protein details for TNRC18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15417-TNC18_HUMAN
    Recommended name:
    Trinucleotide repeat-containing gene 18 protein
    Protein Accession:
    O15417
    Secondary Accessions:
    • A8MX41
    • Q96JH1
    • Q96K91

    Protein attributes for TNRC18 Gene

    Size:
    2968 amino acids
    Molecular mass:
    314519 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: Dubious isoform produced through aberrant splice sites.
    • [Isoform 3]: Incomplete sequence. Non-canonical intron-exon splice junction.
    SequenceCaution:
    • Sequence=BAB55047.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TNRC18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNRC18 Gene

Post-translational modifications for TNRC18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TNRC18 Gene

Domains & Families for TNRC18 Gene

Gene Families for TNRC18 Gene

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

Protein Domains for TNRC18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNRC18 Gene

GenScript: Design optimal peptide antigens:
  • TNRC18 protein (A3KMH2_HUMAN)
  • Long CAG trinucleotide repeat-containing gene 79 protein (TNC18_HUMAN)
genes like me logo Genes that share domains with TNRC18: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNRC18 Gene

Function for TNRC18 Gene

Phenotypes From GWAS Catalog for TNRC18 Gene

Gene Ontology (GO) - Molecular Function for TNRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with TNRC18: view
genes like me logo Genes that share phenotypes with TNRC18: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TNRC18 Gene

Localization for TNRC18 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 TNRC18 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nuclear membrane (4)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNRC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with TNRC18: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNRC18 Gene

Pathways & Interactions for TNRC18 Gene

PathCards logo

SuperPathways for TNRC18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TNRC18 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TNRC18 Gene

Drugs & Compounds for TNRC18 Gene

No Compound Related Data Available

Transcripts for TNRC18 Gene

mRNA/cDNA for TNRC18 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNRC18 Gene

No ASD Table

Relevant External Links for TNRC18 Gene

GeneLoc Exon Structure for
TNRC18

Expression for TNRC18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNRC18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TNRC18 Gene

This gene is overexpressed in Bone (22.8), Pancreatic juice (15.6), Breast (9.2), Platelet (8.3), and Monocytes (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TNRC18 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNRC18

SOURCE GeneReport for Unigene cluster for TNRC18 Gene:

Hs.520638

Evidence on tissue expression from TISSUES for TNRC18 Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TNRC18: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNRC18 Gene

Orthologs for TNRC18 Gene

This gene was present in the common ancestor of animals.

Orthologs for TNRC18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNRC18 31 30
  • 98.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TNRC18 31 30
  • 87.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TNRC18 31 30
  • 86.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tnrc18 17 31 30
  • 81.34 (n)
rat
(Rattus norvegicus)
Mammalia Tnrc18 30
  • 80.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TNRC18 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNRC18 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNRC18 31 30
  • 66.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNRC18 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491423 30
  • 56.25 (n)
Str.19285 30
zebrafish
(Danio rerio)
Actinopterygii tnrc18 31
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta wge 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4643 31
  • 29 (a)
OneToMany
Species where no ortholog for TNRC18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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 TNRC18 Gene

ENSEMBL:
Gene Tree for TNRC18 (if available)
TreeFam:
Gene Tree for TNRC18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNRC18: view image

Paralogs for TNRC18 Gene

Paralogs for TNRC18 Gene

genes like me logo Genes that share paralogs with TNRC18: view

Variants for TNRC18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNRC18 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
708202 Benign: not provided 5,362,801(-) C/T MISSENSE_VARIANT
709427 Benign: not provided 5,313,424(-) C/T SYNONYMOUS_VARIANT
712561 Likely Benign: not provided 5,309,330(-) G/A SYNONYMOUS_VARIANT
712562 Likely Benign: not provided 5,351,984(-) T/C MISSENSE_VARIANT
714768 Benign: not provided 5,377,539(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TNRC18 Gene

Structural Variations from Database of Genomic Variants (DGV) for TNRC18 Gene

Variant ID Type Subtype PubMed ID
dgv11167n54 CNV loss 21841781
dgv11168n54 CNV loss 21841781
dgv3482n106 OTHER inversion 24896259
esv26599 CNV loss 19812545
esv3541093 CNV deletion 23714750
esv3541094 CNV deletion 23714750
esv3611973 CNV loss 21293372
esv8871 CNV gain 19470904
nsv1073631 CNV deletion 25765185
nsv1073632 CNV deletion 25765185
nsv1132033 CNV deletion 24896259
nsv1161487 CNV deletion 26073780
nsv436904 CNV insertion 17901297
nsv508443 CNV deletion 20534489
nsv510064 OTHER sequence alteration 20534489
nsv526194 CNV gain 19592680
nsv8034 CNV gain 18304495
nsv823996 CNV gain 20364138
nsv823997 CNV gain 20364138
nsv830889 CNV loss 17160897
nsv950801 CNV deletion 24416366
nsv966751 CNV duplication 23825009

Variation tolerance for TNRC18 Gene

Gene Damage Index Score: 16.62; 97.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNRC18 Gene

Human Gene Mutation Database (HGMD)
TNRC18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNRC18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNRC18 Gene

Disorders for TNRC18 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TNRC18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 6
  • asd6
seckel syndrome 6
  • sckl6
atrial septal defect 4
  • asd4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TNRC18

genes like me logo Genes that share disorders with TNRC18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNRC18 Gene

Publications for TNRC18 Gene

  1. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis RL … Ross CA (Human genetics 1997) 2 3 4 54
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 54
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for TNRC18 Gene

Sources for TNRC18 Gene