TLDC2 Gene (Protein Coding)

TBC/LysM-Associated Domain Containing 2

GC20P036876
GIFtS:
28
See more...

Aliases for TLDC2 Gene

Aliases for TLDC2 Gene

  • TBC/LysM-Associated Domain Containing 2 2 3 5
  • TBC/LysM-Associated Domain-Containing Protein 2 3 4
  • TLD Domain-Containing Protein 2 3 4
  • Chromosome 20 Open Reading Frame 118 2
  • Hypothetical Protein LOC140711 2
  • TLD Domain Containing 2 2
  • DJ132F21.2 2
  • C20orf118 3
  • TLDC2 5

External Ids for TLDC2 Gene

Previous HGNC Symbols for TLDC2 Gene

  • C20orf118

Previous GeneCards Identifiers for TLDC2 Gene

  • GC20P035505

Summaries for TLDC2 Gene

GeneCards Summary for TLDC2 Gene

TLDC2 (TBC/LysM-Associated Domain Containing 2) is a Protein Coding gene. Diseases associated with TLDC2 include Aicardi-Goutieres Syndrome 5 and Chilblain Lupus 2. An important paralog of this gene is NCOA7.

Additional gene information for TLDC2 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 TLDC2 Gene

Genomics for TLDC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TLDC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J036875 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.7 +2.9 2915 1.6 HNRNPL GATAD2A NFKBIZ ZSCAN4 RXRB ZNF24 PBX2 RNF2 MAX PKNOX1 TLDC2 DSN1 RAB5IF piR-34822-197 SAMHD1
GH20J036873 Enhancer 0.9 ENCODE dbSUPER 600.7 +0.5 477 0.5 JUND PKNOX1 MTA1 NR2C1 HDAC1 SOX6 EP300 MTA3 CTBP1 HES1 TLDC2 piR-34822-197 SAMHD1
GH20J036874 Promoter/Enhancer 0.8 EPDnew dbSUPER 600.7 +0.0 14 0.1 HNRNPL ZIC2 ESR1 NFIC NFIB NFIA GATA2 TLDC2 piR-34822-197 SAMHD1
GH20J036459 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -406.3 -406308 13.6 RNF2 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 LEF1 SOX13 DLGAP4 RBM12 RBM39 RBL1 RPL36P4 AAR2 ERGIC3 RPN2 CPNE1 TGIF2
GH20J037343 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +473.9 473944 7.8 HNRNPL GATAD2A PRDM10 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A RCOR2 FOXA1 SRC MANBAL RPN2 RPRD1B TTI1 RBL1 MROH8 TGIF2 TLDC2 DSN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLDC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLDC2

Genomic Locations for TLDC2 Gene

Genomic Locations for TLDC2 Gene
chr20:36,873,071-36,894,235
(GRCh38/hg38)
Size:
21,165 bases
Orientation:
Plus strand
chr20:35,504,524-35,522,638
(GRCh37/hg19)
Size:
18,115 bases
Orientation:
Plus strand

Genomic View for TLDC2 Gene

Genes around TLDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLDC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TLDC2 Gene

Proteins for TLDC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TLDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0PJX2-TLDC2_HUMAN
    Recommended name:
    TLD domain-containing protein 2
    Protein Accession:
    A0PJX2
    Secondary Accessions:
    • B3KVU8

    Protein attributes for TLDC2 Gene

    Size:
    215 amino acids
    Molecular mass:
    23912 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TLDC2 Gene

Post-translational modifications for TLDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLDC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TLDC2 Gene

Domains & Families for TLDC2 Gene

Gene Families for TLDC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TLDC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TLDC2 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 20 open reading frame 118 (A2A2J3_HUMAN)
  • Chromosome 20 open reading frame 118, isoform CRA_a (E1P5V1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0PJX2

UniProtKB/Swiss-Prot:

TLDC2_HUMAN :
  • Belongs to the OXR1 family.
Family:
  • Belongs to the OXR1 family.
genes like me logo Genes that share domains with TLDC2: view

Function for TLDC2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for TLDC2 Gene

genes like me logo Genes that share phenotypes with TLDC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLDC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TLDC2 Gene

Localization for TLDC2 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 TLDC2 gene
Compartment Confidence
nucleus 2
cytosol 1
extracellular 0
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for TLDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005730 nucleolus IBA 21873635
genes like me logo Genes that share ontologies with TLDC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TLDC2 Gene

Pathways & Interactions for TLDC2 Gene

PathCards logo

SuperPathways for TLDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TLDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IBA 21873635
GO:1903204 negative regulation of oxidative stress-induced neuron death IBA 21873635
genes like me logo Genes that share ontologies with TLDC2: view

No data available for Pathways by source and SIGNOR curated interactions for TLDC2 Gene

Drugs & Compounds for TLDC2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TLDC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TLDC2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 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 TLDC2

Alternative Splicing Database (ASD) splice patterns (SP) for TLDC2 Gene

No ASD Table

Relevant External Links for TLDC2 Gene

GeneLoc Exon Structure for
TLDC2

Expression for TLDC2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TLDC2 Gene

mRNA expression in normal human tissues for TLDC2 Gene
mRNA expression by GTEx for TLDC2 Gene

mRNA differential expression in normal tissues according to GTEx for TLDC2 Gene

This gene is overexpressed in Colon - Transverse (x15.3), Small Intestine - Terminal Ileum (x13.4), and Kidney - Cortex (x7.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLDC2

SOURCE GeneReport for Unigene cluster for TLDC2 Gene:

Hs.472630
genes like me logo Genes that share expression patterns with TLDC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 TLDC2 Gene

Orthologs for TLDC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TLDC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TLDC2 30 31
  • 99.69 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TLDC2 30 31
  • 86.05 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TLDC2 30 31
  • 84.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tldc2 30
  • 83.02 (n)
Mouse
(Mus musculus)
 Mammalia Tldc2 30 17 31
  • 82.08 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TLDC2 31
  • 75 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TLDC2 31
  • 70 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TLDC2 30 31
  • 66.27 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TLDC2 31
  • 56 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tldc2 30
  • 57.05 (n)
Zebrafish
(Danio rerio)
 Actinopterygii TLDC2 31
  • 13 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta mtd 31
  • 7 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea lmd-3 31
  • 9 (a)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFL078W 30
  • 51.57 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E19449g 30
  • 45.56 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes OXR1 30 33
  • 43.33 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02394 30
  • 44.33 (n)
Species where no ortholog for TLDC2 was found in the sources mined by GeneCards:
  • 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)

Evolution for TLDC2 Gene

ENSEMBL:
Gene Tree for TLDC2 (if available)
TreeFam:
Gene Tree for TLDC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLDC2: view image

Paralogs for TLDC2 Gene

Paralogs for TLDC2 Gene

(3) SIMAP similar genes for TLDC2 Gene using alignment to 2 proteins:

  • TLDC2_HUMAN
  • A2A2J3_HUMAN
genes like me logo Genes that share paralogs with TLDC2: view

Variants for TLDC2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLDC2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
636815 Uncertain Significance: not provided 36,892,945(+) T/C MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
660739 Uncertain Significance: Aicardi Goutieres syndrome 5 36,893,060(+) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
735488 Likely Benign: Aicardi Goutieres syndrome 5 36,893,075(+) AAG/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
782349 Benign: not provided 36,879,155(+) G/A MISSENSE_VARIANT
798451 Likely Benign: not provided 36,892,980(+) T/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TLDC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TLDC2 Gene

Variant ID Type Subtype PubMed ID
esv3645741 CNV gain 21293372
nsv1057845 CNV gain 25217958
nsv585944 CNV loss 21841781

Variation tolerance for TLDC2 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLDC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLDC2 Gene

Disorders for TLDC2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TLDC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 5
  • aicardi-goutieres syndrome 1
chilblain lupus 2
  • chbl2
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
  • doors
martsolf syndrome
  • cataract-mental retardation-hypogonadism
aicardi-goutieres syndrome
  • aicardi-goutieres syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search TLDC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLDC2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TLDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLDC2 Gene

Publications for TLDC2 Gene

  1. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  5. 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) 4

ExternalLinks

View latest publications for TLDC2 gene in Mastermind

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