Aliases for THEGL Gene

Aliases for THEGL Gene

  • Theg Spermatid Protein Like 2 3 5
  • Testicular Haploid Expressed Gene Protein-Like 3 4
  • Theg Spermatid-Like Protein 3 4
  • THEGL 5

External Ids for THEGL Gene

Previous GeneCards Identifiers for THEGL Gene

  • GC04P057398

Summaries for THEGL Gene

GeneCards Summary for THEGL Gene

THEGL (Theg Spermatid Protein Like) is a Protein Coding gene. Diseases associated with THEGL include Facioscapulohumeral Muscular Dystrophy 1 and Facioscapulohumeral Muscular Dystrophy 2. An important paralog of this gene is THEG.

Additional gene information for THEGL 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 THEGL Gene

Genomics for THEGL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THEGL 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
GH04J056530 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 617.5 +0.3 258 1.7 BRCA1 PRDM10 RFX1 IKZF1 JUND MTA2 NR2C1 POLR2A GATAD2B SCRT2 THEGL LOC105377665 lnc-PPAT-3 SRP72 ARL9 ENSG00000251799 SPINK2 HSALNG0034596 HOPX
GH04J056532 Enhancer 0.6 Ensembl 600.7 +1.3 1326 0.2 IKZF1 PKNOX1 DPF2 ZNF766 HMBOX1 NFE2 ZSCAN29 ZNF316 MAFG EHMT2 LOC105377665 THEGL lnc-PPAT-3 ARL9 SRP72 ENSG00000251799 SPINK2 HSALNG0034596 HOPX
GH04J056533 Enhancer 0.6 Ensembl 600.7 +1.7 1726 0.2 PRDM1 DPF2 ZNF766 HMBOX1 NFE2 ZSCAN29 ZNF316 MAFG HDAC2 MAFF HSALNG0034596 LOC105377665 THEGL lnc-PPAT-3 SRP72 ARL9 ENSG00000251799 SPINK2 HOPX
GH04J056544 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas 0.4 +14.1 14096 1 CREB1 CTCF ATF7 ZNF629 TFE3 NFKBIZ ZNF692 JUND LARP7 ZNF143 SPINK2 ENSG00000251799 AASDH ARL9 piR-57460-524 THEGL GLDCP1 HOPX
GH04J056504 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 0.4 -24.7 -24747 1.9 PRDM1 EZH2 USF1 POLR2A EBF1 SIN3A ZNF687 MAX ZBTB33 ARL9 SRP72 AASDH THEGL lnc-PPAT-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for THEGL Gene

Genomic Locations for THEGL Gene
chr4:56,530,575-56,626,214
(GRCh38/hg38)
Size:
95,640 bases
Orientation:
Plus strand
chr4:57,396,775-57,469,673
(GRCh37/hg19)
Size:
72,899 bases
Orientation:
Plus strand

Genomic View for THEGL Gene

Genes around THEGL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for THEGL Gene

Proteins for THEGL Gene

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

    Protein Symbol:
    P0DJG4-THEGL_HUMAN
    Recommended name:
    Testicular haploid expressed gene protein-like
    Protein Accession:
    P0DJG4

    Protein attributes for THEGL Gene

    Size:
    465 amino acids
    Molecular mass:
    53028 Da
    Quaternary structure:
    No Data Available

neXtProt entry for THEGL Gene

Post-translational modifications for THEGL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THEGL Gene

No data available for DME Specific Peptides for THEGL Gene

Domains & Families for THEGL Gene

Gene Families for THEGL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for THEGL Gene

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

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

Function for THEGL Gene

Phenotypes From GWAS Catalog for THEGL Gene

Phenotypes for THEGL Gene

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

Animal Models for THEGL Gene

MGI Knock Outs for THEGL:
  • Thegl Thegl<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for THEGL Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for THEGL Gene

Pathways & Interactions for THEGL Gene

PathCards logo

SuperPathways for THEGL Gene

No Data Available

Interacting Proteins for THEGL Gene

Selected Interacting proteins: P0DJG4-THEGL_HUMAN for THEGL Gene via IID

Gene Ontology (GO) - Biological Process for THEGL Gene

None

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

Drugs & Compounds for THEGL Gene

No Compound Related Data Available

Transcripts for THEGL Gene

mRNA/cDNA for THEGL Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 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 THEGL

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

No ASD Table

Relevant External Links for THEGL Gene

GeneLoc Exon Structure for
THEGL

Expression for THEGL Gene

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

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

This gene is overexpressed in Testis (x29.2).

Protein differential expression in normal tissues from HIPED for THEGL Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.6) and Cerebrospinal fluid (14.4).

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



Protein tissue co-expression partners for THEGL Gene

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

SOURCE GeneReport for Unigene cluster for THEGL Gene:

Hs.573073
genes like me logo Genes that share expression patterns with THEGL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for THEGL Gene

Orthologs for THEGL Gene

This gene was present in the common ancestor of chordates.

Orthologs for THEGL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia THEGL 30
  • 98.91 (n)
Cow
(Bos Taurus)
Mammalia THEGL 30
  • 78.54 (n)
Dog
(Canis familiaris)
Mammalia THEGL 30 31
  • 77.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 1700023E05Rik 30 31
  • 71.51 (n)
OneToOne
Thegl 17
Rat
(Rattus norvegicus)
Mammalia LOC498350 30
  • 70.4 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia THEGL 31
  • 39 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THEGL 31
  • 37 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for THEGL 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)
  • Oppossum (Monodelphis domestica)
  • 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 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for THEGL Gene

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

Paralogs for THEGL Gene

Paralogs for THEGL Gene

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

Variants for THEGL Gene

Additional dbSNP identifiers (rs#s) for THEGL Gene

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

Variant ID Type Subtype PubMed ID
dgv5213n100 CNV gain 25217958
esv3600578 CNV loss 21293372
esv3600579 CNV loss 21293372
nsv829941 CNV loss 17160897
nsv829942 CNV gain 17160897
nsv964047 CNV duplication 23825009

Variation tolerance for THEGL Gene

Gene Damage Index Score: 6.67; 78.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THEGL Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THEGL Gene

Disorders for THEGL Gene

MalaCards: The human disease database

(2) MalaCards diseases for THEGL Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search THEGL in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with THEGL: view

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

Publications for THEGL Gene

  1. CHK2-BRCA1 tumor-suppressor axis restrains oncogenic Aurora-A kinase to ensure proper mitotic microtubule assembly. (PMID: 26831064) Ertych N … Bastians H (Proceedings of the National Academy of Sciences of the United States of America 2016) 3
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
  3. 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) 3

Products for THEGL Gene

Sources for THEGL Gene