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Aliases for THEGL Gene
Aliases for THEGL Gene
External Ids for THEGL Gene
- HGNC: 43771
- Entrez Gene: 100506564
- Ensembl: ENSG00000249693
- UniProtKB: P0DJG4
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
- HGNC(43771)
- Entrez Gene(100506564)
- Ensembl(ENSG00000249693)
- UniProtKB(P0DJG4)
- Open Targets Platform(ENSG00000249693)
- Search for THEGL at DataMed
- Search for THEGL at HumanCyc
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
- 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:
-
- 4q12 by HGNC
- 4q12 by Entrez Gene
- 4q12 by Ensembl
THEGL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Protein Expression for THEGL Gene
Post-translational modifications for THEGL Gene
Other Protein References for THEGL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for THEGL
- Invitrogen Antibodies for THEGL (AFLGC-THEGL)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for THEGL
- Origene Custom Protein Services for THEGL
- Novus Biologicals proteins for THEGL
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
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
- MGI mutant phenotypes for THEGL:
- inferred from 1 alleles
Animal Models for THEGL Gene
- MGI Knock Outs for THEGL:
-
- Thegl Thegl<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for THEGL - Select products 50% OFF >
- * THEGL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for THEGL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for THEGL
-
Santa Cruz Biotechnology (SCBT) CRISPR for THEGL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for THEGL
- Browse OriGene Inhibitory RNA Products For THEGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THEGL
Clone Products
- Applied Biological Materials (abm): Clones for THEGL - Select products 50% OFF >
- * THEGL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for THEGL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for THEGL
Cell Line Products
-
Horizon Cell Lines 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
Interacting Proteins for THEGL Gene
No data available for Pathways by source and SIGNOR curated interactions for THEGL Gene
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 :
-
- ENST00000510716 571 nts (view in UCSC)
- ENST00000512175 1653 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for THEGL - Select products 50% OFF >
- * THEGL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for THEGL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for THEGL
-
Santa Cruz Biotechnology (SCBT) CRISPR for THEGL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for THEGL
- Browse OriGene Inhibitory RNA Products For THEGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THEGL
Clone Products
- Applied Biological Materials (abm): Clones for THEGL - Select products 50% OFF >
- * THEGL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for THEGL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for THEGL
Relevant External Links for THEGL Gene
- GeneLoc Exon Structure for
- THEGL
Expression for THEGL Gene
mRNA differential expression in normal tissues according to GTEx for THEGL Gene
This gene is overexpressed in Testis (x29.2).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THEGL
SOURCE GeneReport for Unigene cluster for THEGL Gene:
Hs.573073Primer Products
-
OriGene qPCR primer pairs for THEGL
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | THEGL 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | THEGL 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | THEGL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | 1700023E05Rik 30 31 |
|
OneToOne | |
| Thegl 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | LOC498350 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | THEGL 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | THEGL 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Variants 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| facioscapulohumeral muscular dystrophy 1 |
|
|
| facioscapulohumeral muscular dystrophy 2 |
|
|
Search THEGL in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for THEGL
No data available for UniProtKB/Swiss-Prot and Genatlas for THEGL Gene
Publications for THEGL Gene
- 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
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
- 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
ExternalLinks
Products for THEGL Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for THEGL
- Origene Custom Protein Services for THEGL
- Origene shrna, sirna, and RNAi products in human, mouse, rat for THEGL
- Browse OriGene Inhibitory RNA Products For THEGL
- OriGene qPCR primer pairs for THEGL
- OriGene CRISPR knockouts for THEGL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For THEGL
- Sino Biological Human cDNA Clone for THEGL
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for THEGL
- Novus Biologicals proteins for THEGL
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for THEGL (AFLGC-THEGL)
- VectorBuilder Custom and pre-made DNA vectors for THEGL (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for THEGL (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for THEGL (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for THEGL CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for THEGL
- antibodies-online: Search results for available THEGL related products ranked by validation data
- antibodies-online: Search results for available THEGL related products ranked by validation data
- antibodies-online: Search results for available THEGL related products ranked by validation data
- Horizon Cell Lines for THEGL
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for THEGL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for THEGL
- Search GeneCopoeia for miRNA 3'UTR Target clone products for THEGL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THEGL
Sources for THEGL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB