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Aliases for TBRG1 Gene
Aliases for TBRG1 Gene
External Ids for TBRG1 Gene
- HGNC: 29551
- NCBI Entrez Gene: 84897
- Ensembl: ENSG00000154144
- OMIM®: 610614
- UniProtKB/Swiss-Prot: Q3YBR2
Previous GeneCards Identifiers for TBRG1 Gene
- GC11P126493
- GC11P126006
- GC11P124526
- GC11P124030
- GC11P123997
- GC11P124492
- GC11P120435
Summaries for TBRG1 Gene
GeneCards Summary for TBRG1 Gene
TBRG1 (Transforming Growth Factor Beta Regulator 1) is a Protein Coding gene. Diseases associated with TBRG1 include Acromicric Dysplasia and Geleophysic Dysplasia 1. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Apoptotic Pathways in Synovial Fibroblasts.
UniProtKB/Swiss-Prot Summary for TBRG1 Gene
-
Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.
Additional gene information for TBRG1 Gene
- HGNC (29551)
- NCBI Entrez Gene (84897)
- Ensembl (ENSG00000154144)
- OMIM® (610614)
- UniProtKB/Swiss-Prot (Q3YBR2)
- Open Targets Platform(ENSG00000154144)
- Alliance of Genome Resources
- Search for TBRG1 at DataMed
- Search for TBRG1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBRG1 Gene
Genomics for TBRG1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBRG1 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 TBRG1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBRG1
- Top Transcription factor binding sites by QIAGEN in the TBRG1 gene promoter:
-
- AREB6
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Evi-1
- ISGF-3
- p53
Genomic Locations for TBRG1 Gene
Latest Assembly
- chr11:124,622,836-124,635,926
- (GRCh38/hg38)
- Size:
- 13,091 bases
- Orientation:
- Plus strand
Previous Assembly
- chr11:124,492,760-124,505,822
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 13,063 bases
- Orientation:
- Plus strand
Genomic View for TBRG1 Gene
Genes around TBRG1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
TBRG1 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 TBRG1 Gene
Proteins for TBRG1 Gene
-
Protein details for TBRG1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q3YBR2-TBRG1_HUMAN
- Recommended name:
- Transforming growth factor beta regulator 1
- Protein Accession:
- Q3YBR2
- Q53GJ5
- Q66ZJ6
- Q69YS7
- Q8TCS4
- Q8TEI4
- Q96SV0
Protein attributes for TBRG1 Gene
- Size:
- 411 amino acids
- Molecular mass:
- 44946 Da
- Quaternary structure:
-
- Interacts with CDKN2A and MDM2.
- SequenceCaution:
-
- Sequence=BAB84966.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for TBRG1 Gene
Post-translational modifications for TBRG1 Gene
- Ubiquitinated; mediated by MDM2 and leading to its subsequent proteasomal degradation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for TBRG1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for TBRG1
- Novus Biologicals Antibodies for TBRG1
- Invitrogen Antibodies for TBRG1 (AFLGC-TBRG1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBRG1
Protein products for research
-
OriGene Purified Proteins for TBRG1
- Search Origene for MassSpec and Protein Over-expression Lysates for TBRG1
- Origene Custom Protein Services for TBRG1
- Novus Biologicals proteins for TBRG1
- antibodies-online: Show 6 available TBRG1 Proteins ranked by validation data
- Compare Top TBRG1 Proteins
-
Quality Products:
-
Abcam proteins for TBRG1
Assay products for research
No data available for DME Specific Peptides for TBRG1 Gene
Domains & Families for TBRG1 Gene
Gene Families for TBRG1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for TBRG1 Gene
- GenScript: Design optimal peptide antigens:
-
- TBRG1 protein (Q05BL0_HUMAN)
- TBRG1 protein (Q6GPH2_HUMAN)
- cDNA FLJ25020 fis, clone CBL01662 (Q96LV8_HUMAN)
- Nuclear interactor of ARF and Mdm2 (TBRG1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q3YBR2- Family:
-
- Belongs to the TBRG1 family.
Function for TBRG1 Gene
Molecular function for TBRG1 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.
Phenotypes From GWAS Catalog for TBRG1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17110379 |
Phenotypes for TBRG1 Gene
- MGI mutant phenotypes for TBRG1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TBRG1:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TBRG1 - Starting at $85 >
- * TBRG1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TBRG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBRG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBRG1
miRNA for TBRG1 Gene
- miRTarBase miRNAs that target TBRG1
-
- hsa-miR-16-5p (MIRT031449)
- hsa-miR-484 (MIRT042360)
- hsa-miR-19a-3p (MIRT179423)
- hsa-miR-19b-3p (MIRT179424)
- hsa-miR-1468-3p (MIRT179425)
- hsa-miR-548f-5p (MIRT179426)
- hsa-miR-548g-5p (MIRT179427)
- hsa-miR-1265 (MIRT179428)
- hsa-miR-1252-5p (MIRT179429)
- hsa-miR-548x-5p (MIRT179430)
- hsa-miR-3611 (MIRT179431)
- hsa-miR-548aj-5p (MIRT179433)
- hsa-miR-4635 (MIRT179435)
- hsa-miR-4698 (MIRT179436)
- hsa-miR-4764-5p (MIRT179437)
- hsa-miR-548aw (MIRT179438)
- hsa-miR-8066 (MIRT179439)
- hsa-miR-142-3p (MIRT179440)
- hsa-miR-1258 (MIRT179442)
- hsa-miR-3152-3p (MIRT179443)
- hsa-miR-4694-5p (MIRT179445)
- hsa-miR-6134 (MIRT179447)
- hsa-miR-6800-5p (MIRT179448)
- hsa-miR-7854-3p (MIRT179449)
- hsa-miR-196a-5p (MIRT230833)
- hsa-miR-196b-5p (MIRT230834)
- hsa-miR-15a-5p (MIRT265056)
- hsa-miR-15b-5p (MIRT265057)
- hsa-miR-195-5p (MIRT265058)
- hsa-miR-424-5p (MIRT265059)
- hsa-miR-497-5p (MIRT265062)
- hsa-miR-6126 (MIRT265067)
- hsa-miR-6838-5p (MIRT265068)
- hsa-miR-6864-5p (MIRT265069)
- hsa-miR-633 (MIRT265070)
- hsa-miR-2054 (MIRT265071)
- hsa-miR-4668-5p (MIRT265073)
- hsa-miR-4727-3p (MIRT265074)
- hsa-miR-188-3p (MIRT486627)
- hsa-miR-6802-5p (MIRT486628)
- hsa-miR-140-3p (MIRT486629)
- hsa-miR-4255 (MIRT486630)
- hsa-miR-4424 (MIRT497134)
- hsa-miR-6500-3p (MIRT497135)
- hsa-miR-3614-5p (MIRT497136)
- hsa-miR-1305 (MIRT520787)
- hsa-miR-498 (MIRT520788)
- hsa-miR-6807-5p (MIRT520789)
- hsa-miR-208b-5p (MIRT520790)
- hsa-miR-208a-5p (MIRT520791)
- hsa-miR-3185 (MIRT520792)
- hsa-miR-4780 (MIRT520793)
- hsa-miR-6756-3p (MIRT520794)
- hsa-miR-3127-3p (MIRT520795)
- hsa-miR-6739-5p (MIRT553729)
- hsa-miR-6733-5p (MIRT553730)
- hsa-miR-3153 (MIRT553731)
- hsa-miR-1537-5p (MIRT553732)
- hsa-miR-107 (MIRT553733)
- hsa-miR-103a-3p (MIRT553734)
- hsa-miR-3155b (MIRT553735)
- hsa-miR-3155a (MIRT553736)
- hsa-miR-1296-3p (MIRT553737)
- hsa-miR-548e-5p (MIRT553738)
- hsa-miR-155-5p (MIRT734660)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBRG1
- Browse OriGene Inhibitory RNA Products For TBRG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG1
Clone products for research
- Applied Biological Materials (abm): Clones for TBRG1 - Starting at $45 >
- * TBRG1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TBRG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBRG1
Cell Lines for research
-
Horizon Cell Lines for TBRG1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBRG1 Gene
Localization for TBRG1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBRG1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 17110379 |
| GO:0005654 | nucleoplasm | IDA | -- |
Pathways & Interactions for TBRG1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
| 2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
| 5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
Pathways by source for TBRG1 Gene
54 Qiagen pathways for TBRG1 Gene
- 14-3-3 Induced Intracellular Signaling
- Actin-Based Motility by Rho Family GTPases
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Activation of PKC through GPCR
Interacting Proteins for TBRG1 Gene
Selected Interacting proteins:
Q3YBR2-TBRG1_HUMAN
ENSP00000409016
for TBRG1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TBRG1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006260 | DNA replication | IMP | 17110379 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007050 | cell cycle arrest | IMP | 17110379 |
| GO:0008285 | negative regulation of cell proliferation | IMP | 17110379 |
| GO:0050821 | protein stabilization | IMP | 17110379 |
No data available for SIGNOR curated interactions for TBRG1 Gene
Transcripts for TBRG1 Gene
mRNA/cDNA for TBRG1 Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000284290 4468 nts (view in UCSC)
- ENST00000438907 842 nts (view in UCSC)
- ENST00000441174 5144 nts (view in UCSC)
- ENST00000452080 730 nts (view in UCSC)
- ENST00000473629 1634 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TBRG1 - Starting at $85 >
- * TBRG1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TBRG1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBRG1
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBRG1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBRG1
- Browse OriGene Inhibitory RNA Products For TBRG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG1
Clone products for research
- Applied Biological Materials (abm): Clones for TBRG1 - Starting at $45 >
- * TBRG1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TBRG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBRG1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for TBRG1 Gene
- GeneLoc Exon Structure for
- TBRG1
Expression for TBRG1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Blymphocyte (61.7) and Placenta (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBRG1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBRG1
SOURCE GeneReport for Unigene cluster for TBRG1 Gene:
Hs.436410mRNA Expression by UniProt/SwissProt for TBRG1 Gene:
Q3YBR2-TBRG1_HUMAN
Tissue specificity:
Widely expressed at low levels in most tissues, with highest levels in pancreas, lung and liver. Expression is decreased in primary tumors including lung, liver, breast, pancreas and kidney carcinomas, chronic lymphocytic leukemia and diffuse large B-cell lymphoma.
Evidence on tissue expression from TISSUES for TBRG1 Gene
- Nervous system(4.9)
- Kidney(4.3)
- Spleen(4.3)
- Pancreas(4.2)
- Skin(2.1)
Primer products for research
-
OriGene qPCR primer pairs for TBRG1
-
OriGene qPCR primer pairs and template standards for TBRG1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBRG1 Gene
Orthologs for TBRG1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TBRG1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TBRG1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TBRG1 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tbrg1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tbrg1 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TBRG1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | TBRG1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbrg1 29 |
|
||
| Str.7289 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7342 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tbrg1 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9934 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG31111 29 30 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for TBRG1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TBRG1 Gene
- ENSEMBL:
- Gene Tree for TBRG1 (if available)
- TreeFam:
- Gene Tree for TBRG1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBRG1: view image
- Alliance of Genome Resources:
- Additional Orthologs for TBRG1
Paralogs for TBRG1 Gene
No data available for Paralogs for TBRG1 Gene
Variants for TBRG1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBRG1 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 993529 | Uncertain Significance: none provided | 124,632,236(+) |
T/C NM_032811.3(TBRG1):c.1234T>C (p.Ter412Arg) |
STOP_LOST,NON_CODING_TRANSCRIPT | |
| 996584 | Likely Pathogenic: Intellectual disability | 124,626,940(+) |
G/A NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1045156 | CNV | loss | 25217958 |
Gene Damage Index Score:
3.63;
56.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBRG1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBRG1 Gene
Disorders for TBRG1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acromicric dysplasia |
|
|
| geleophysic dysplasia 1 |
|
|
| geleophysic dysplasia 2 |
|
|
| geleophysic dysplasia |
|
|
| stiff skin syndrome |
|
|
Search TBRG1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TBRG1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TBRG1 Gene
Publications for TBRG1 Gene
- A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability. (PMID: 17110379) Tompkins VS … Quelle DE (The Journal of biological chemistry 2007) 2 3 4
- The structure of the FYR domain of transforming growth factor beta regulator 1. (PMID: 20506279) García-Alai MM … Bycroft M (Protein science : a publication of the Protein Society 2010) 3 4
- Identification of novel ARF binding proteins by two-hybrid screening. (PMID: 16582619) Tompkins V … Quelle DE (Cell cycle (Georgetown, Tex.) 2006) 3 4
- 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) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for TBRG1 Gene
- Custom Antibody ServicesOriGene Antibodies for TBRG1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for TBRG1
- Search Origene for MassSpec and Protein Over-expression Lysates for TBRG1
- Origene Custom Protein Services for TBRG1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBRG1
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- OriGene qPCR primer pairs for TBRG1
- OriGene qPCR primer pairs and template standards for TBRG1
- OriGene CRISPR knockouts for TBRG1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TBRG1
- Sino Biological Human cDNA Clone for TBRG1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for TBRG1
- Novus Biologicals proteins for TBRG1
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- Abcam proteins for TBRG1
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- Invitrogen Antibodies for TBRG1 (AFLGC-TBRG1)
- VectorBuilder Custom and pre-made DNA vectors for TBRG1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TBRG1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TBRG1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TBRG1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TBRG1
- antibodies-online: Show 8 available TBRG1 Antibodies ranked by validation data
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- antibodies-online: Search results for available TBRG1 related products ranked by validation data
- antibodies-online: Show 6 available TBRG1 Proteins ranked by validation data
- Compare Top TBRG1 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for TBRG1
- Search Santa Cruz Biotechnology (SCBT) for TBRG1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TBRG1
- Horizon Cell Lines for TBRG1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBRG1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBRG1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TBRG1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBRG1
Sources for TBRG1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources