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This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor s... See more...
Aliases for TUSC3 Gene
Aliases for TUSC3 Gene
- Tumor Suppressor Candidate 3 2 3 4 5
- Magnesium Uptake/Transporter TUSC3 2 3 4
- Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit TUSC3 3 4
- Mental Retardation, Non-Syndromic, Autosomal Recessive, 22 2 3
- Oligosaccharyl Transferase Subunit TUSC3 3 4
- N33 3 4
- Oligosaccharyltransferase 3 Homolog A (S. Cerevisiae) 2
- Putative Prostate Cancer Tumor Suppressor 3
External Ids for TUSC3 Gene
- HGNC: 30242
- Entrez Gene: 7991
- Ensembl: ENSG00000104723
- OMIM: 601385
- UniProtKB: Q13454
Previous HGNC Symbols for TUSC3 Gene
- MRT22
Previous GeneCards Identifiers for TUSC3 Gene
- GC08P015408
- GC08P015442
- GC08P015274
- GC08P013941
Summaries for TUSC3 Gene
-
This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
GeneCards Summary for TUSC3 Gene
TUSC3 (Tumor Suppressor Candidate 3) is a Protein Coding gene. Diseases associated with TUSC3 include Autosomal Recessive Non-Syndromic Intellectual Disability and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity and dolichyl-diphosphooligosaccharide-protein glycotransferase activity. An important paralog of this gene is MAGT1.
UniProtKB/Swiss-Prot Summary for TUSC3 Gene
-
Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.
-
Magnesium transporter.
Additional gene information for TUSC3 Gene
- Monarch Initiative
- Search for TUSC3 at DataMed
- Search for TUSC3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUSC3 Gene
Genomics for TUSC3 Gene
GeneHancer (GH) Regulatory Elements for TUSC3 Gene
Promoters and enhancers for TUSC3 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 TUSC3 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUSC3
- Top Transcription factor binding sites by QIAGEN in the TUSC3 gene promoter:
-
- AREB6
- FOXD3
- IRF-7A
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
Genomic Locations for TUSC3 Gene
Genomic Locations for TUSC3 Gene
- chr8:15,417,215-15,766,649
- (GRCh38/hg38)
- Size:
- 349,435 bases
- Orientation:
- Plus strand
- chr8:15,274,724-15,624,158
- (GRCh37/hg19)
- Size:
- 349,435 bases
- Orientation:
- Plus strand
Genomic View for TUSC3 Gene
Genes around TUSC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p22 by HGNC
- 8p22 by Entrez Gene
- 8p22 by Ensembl
TUSC3 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 TUSC3 Gene
Proteins for TUSC3 Gene
-
Protein details for TUSC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13454-TUSC3_HUMAN
- Recommended name:
- Tumor suppressor candidate 3
- Protein Accession:
- Q13454
- A8MSM0
- D3DSP2
- Q14911
- Q14912
- Q96FW0
Protein attributes for TUSC3 Gene
- Size:
- 348 amino acids
- Molecular mass:
- 39676 Da
- Quaternary structure:
-
- Accessory component of the STT3B-containing form of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. The association of TUSC3 or MAGT1 with the STT3B-containing complex seems to be mutually exclusvice.
Three dimensional structures from OCA and Proteopedia for TUSC3 Gene
Protein Expression for TUSC3 Gene
Post-translational modifications for TUSC3 Gene
Other Protein References for TUSC3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences TUSC3 Antibody
- Creative Diagnostics Anti-TUSC3 monoclonal antibody
- Novus Biologicals Antibodies for TUSC3
-
Abcam antibodies for TUSC3
- Invitrogen Antibodies for TUSC3 (AFLGC-TUSC3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TUSC3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TUSC3
- Origene Custom Protein Services for TUSC3
-
Abcam proteins for TUSC3
Assay Products
-
Boster Bio ELISA Kits for TUSC3
No data available for DME Specific Peptides for TUSC3 Gene
Domains & Families for TUSC3 Gene
Gene Families for TUSC3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for TUSC3 Gene
- Blocks:
-
- OST3/OST6
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TUSC3 Gene
- GenScript: Design optimal peptide antigens:
-
- Tumor suppressor candidate 3 isoform b (Q6Q319_HUMAN)
- Tumor suppressor candidate 3 isoform a (Q6Q320_HUMAN)
- Tumor suppressor candidate 3 (Q6QQE4_HUMAN)
- Protein N33 (TUSC3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13454- Family:
-
- Belongs to the OST3/OST6 family.
Function for TUSC3 Gene
Molecular function for TUSC3 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.
- UniProtKB/Swiss-Prot Function:
- Magnesium transporter.
Phenotypes From GWAS Catalog for TUSC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004579 | contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity | IBA | 21873635 |
| GO:0015095 | magnesium ion transmembrane transporter activity | TAS | -- |
Phenotypes for TUSC3 Gene
- MGI mutant phenotypes for TUSC3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TUSC3:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased G2M DNA content, increased 8N DNA content
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
Animal Model Products
-
Taconic Biosciences Mouse Models for TUSC3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TUSC3 - Select products 50% OFF >
- * TUSC3 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 TUSC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TUSC3
- genomics-online: gRNA clones - Search for available TUSC3 gRNA products
- Overview of 123 available TUSC3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUSC3
miRNA for TUSC3 Gene
- miRTarBase miRNAs that target TUSC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TUSC3
- Browse OriGene Inhibitory RNA Products For TUSC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUSC3
- genomics-online: shRNA clones - Search for available TUSC3 shRNA products
- Overview of 123 available TUSC3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TUSC3 - Select products 50% OFF >
- * TUSC3 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 TUSC3
- Addgene plasmids for TUSC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TUSC3
- genomics-online: cdna clones - Search for available TUSC3 CDNA products
- Overview of 123 available TUSC3 gene related products
- orf clones - Search for available TUSC3 ORF products
- Overview of 123 available TUSC3 gene related products
Cell Line Products
-
Horizon Cell Lines for TUSC3
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUSC3 Gene
Localization for TUSC3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TUSC3 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 4 |
| endoplasmic reticulum | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | ISS | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | NAS | 19717468 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TUSC3 Gene
Pathways & Interactions for TUSC3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Protein processing in endoplasmic reticulum | ||
| 5 | Transport to the Golgi and subsequent modification | ||
Pathways by source for TUSC3 Gene
4 KEGG pathways for TUSC3 Gene
UniProtKB/Swiss-Prot Q13454-TUSC3_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for TUSC3 Gene
Selected Interacting proteins:
Q13454-TUSC3_HUMAN
ENSP00000424544
for TUSC3 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for TUSC3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006487 | protein N-linked glycosylation | NAS | 18455129 |
| GO:0015693 | magnesium ion transport | IMP | 19717468 |
| GO:0018279 | protein N-linked glycosylation via asparagine | IBA,TAS | -- |
| GO:0050890 | cognition | IMP | 18455129 |
No data available for SIGNOR curated interactions for TUSC3 Gene
Transcripts for TUSC3 Gene
mRNA/cDNA for TUSC3 Gene
- 3 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000382020 3683 bps (ENST00000382020.8)
- ENST00000503191 731 bps (ENST00000503191.5)
- ENST00000503731 3697 bps (ENST00000503731.6)
- ENST00000506802 1546 bps (ENST00000506802.5)
- ENST00000507316 573 bps (ENST00000507316.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TUSC3 - Select products 50% OFF >
- * TUSC3 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 TUSC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TUSC3
- genomics-online: gRNA clones - Search for available TUSC3 gRNA products
- Overview of 123 available TUSC3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TUSC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TUSC3
- Browse OriGene Inhibitory RNA Products For TUSC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUSC3
- genomics-online: shRNA clones - Search for available TUSC3 shRNA products
- Overview of 123 available TUSC3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TUSC3 - Select products 50% OFF >
- * TUSC3 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 TUSC3
- Addgene plasmids for TUSC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TUSC3
- genomics-online: cdna clones - Search for available TUSC3 CDNA products
- Overview of 123 available TUSC3 gene related products
- orf clones - Search for available TUSC3 ORF products
- Overview of 123 available TUSC3 gene related products
Relevant External Links for TUSC3 Gene
- GeneLoc Exon Structure for
- TUSC3
Expression for TUSC3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spinal Cord (Nervous System)
-
Adrenal Gland (Endocrine System)
-
Ovary (Reproductive System)
This gene is overexpressed in Nasal epithelium (43.5) and Placenta (10.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUSC3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUSC3
SOURCE GeneReport for Unigene cluster for TUSC3 Gene:
Hs.426324mRNA Expression by UniProt/SwissProt for TUSC3 Gene:
Q13454-TUSC3_HUMAN
Tissue specificity:
Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.
Evidence on tissue expression from TISSUES for TUSC3 Gene
- Skin(4.3)
- Nervous system(3.9)
- Pancreas(2.3)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TUSC3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
Thorax:
- chest wall
- heart
Abdomen:
- abdominal wall
Limb:
- foot
- lower limb
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for TUSC3
-
OriGene qPCR primer pairs and template standards for TUSC3
- genomics-online: primer clones - Search for available TUSC3 Primer products
- Overview of 123 available TUSC3 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for TUSC3 Gene
Orthologs for TUSC3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TUSC3 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TUSC3 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TUSC3 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TUSC3 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tusc3 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tusc3 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TUSC3 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TUSC3 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TUSC3 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tusc3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19274 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | TUSC3 (2 of 2) 31 |
|
OneToMany | |
| TUSC3 (1 of 2) 31 |
|
OneToMany | |||
| tusc3 30 |
|
||||
| Dr.12544 30 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Ostgamma 30 |
|
||
| CG7830 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010010 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ZK686.3 31 30 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C13904g 30 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | OST3 31 30 |
|
OneToMany | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER413C 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10969 31 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03995 30 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAPB17E12.11 30 |
|
- Species where no ortholog for TUSC3 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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 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 TUSC3 Gene
- ENSEMBL:
- Gene Tree for TUSC3 (if available)
- TreeFam:
- Gene Tree for TUSC3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TUSC3: view image
Paralogs for TUSC3 Gene
Variants for TUSC3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUSC3 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 718019 | Likely Benign: not provided | 15,743,528(+) | A/C | INTRON_VARIANT | |
| 725067 | Likely Benign: not provided | 15,659,542(+) | T/C | SYNONYMOUS_VARIANT | |
| 727158 | Likely Benign: not provided | 15,659,584(+) | C/G | SYNONYMOUS_VARIANT | |
| 734609 | Likely Benign: not provided | 15,757,787(+) | A/G | INTRON_VARIANT | |
| 737155 | Likely Benign: not provided | 15,540,535(+) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
7.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.91;
18.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TUSC3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUSC3 Gene
Disorders for TUSC3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autosomal recessive non-syndromic intellectual disability |
|
|
| congenital disorder of glycosylation, type in |
|
|
| hypermethioninemia due to adenosine kinase deficiency |
|
|
| immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia |
|
|
| pharynx squamous cell carcinoma |
|
|
Search TUSC3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TUSC3_HUMAN- Mental retardation, autosomal recessive 7 (MRT7) [MIM:611093]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:18452889, ECO:0000269 PubMed:18455129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TUSC3
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TUSC3 Gene
Publications for TUSC3 Gene
- A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. (PMID: 18452889) Garshasbi M … Kuss AW (American journal of human genetics 2008) 3 4 23 54
- Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22. (PMID: 8661104) MacGrogan D … Bookstein R (Genomics 1996) 2 3 4 54
- Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N-glycosylation. (PMID: 24685145) Mohorko E … Glockshuber R (Structure (London, England : 1993) 2014) 3 4 54
- Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 3 41 54
- Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. (PMID: 19717468) Zhou H … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 54
Products for TUSC3 Gene
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- Browse OriGene Inhibitory RNA Products For TUSC3
- OriGene qPCR primer pairs for TUSC3
- OriGene qPCR primer pairs and template standards for TUSC3
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- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for TUSC3
- Novus Biologicals proteins and lysates for TUSC3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for TUSC3
- Abcam proteins for TUSC3
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for TUSC3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for TUSC3 (AFLGC-TUSC3)
- VectorBuilder Custom and pre-made DNA vectors for TUSC3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TUSC3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TUSC3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TUSC3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TUSC3
- Addgene plasmids for TUSC3
- antibodies-online: Show 11 available TUSC3 Antibodies ranked by validation data
- Compare Top TUSC3 Antibodies
- antibodies-online: Search results for available TUSC3 related products ranked by validation data
- antibodies-online: Show 4 available TUSC3 Proteins ranked by validation data
- Compare Top TUSC3 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TUSC3
- Search Santa Cruz Biotechnology (SCBT) for TUSC3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TUSC3
- Horizon Cell Lines for TUSC3
- genomics-online: cdna clones - Search for available TUSC3 CDNA products
- Overview of 123 available TUSC3 gene related products
- orf clones - Search for available TUSC3 ORF products
- Overview of 123 available TUSC3 gene related products
- genomics-online: gRNA clones - Search for available TUSC3 gRNA products
- Overview of 123 available TUSC3 gene related products
- genomics-online: primer clones - Search for available TUSC3 Primer products
- Overview of 123 available TUSC3 gene related products
- genomics-online: shRNA clones - Search for available TUSC3 shRNA products
- Overview of 123 available TUSC3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TUSC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TUSC3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TUSC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUSC3
- Browse Boster Bio Antibodies
- Boster Bio ELISA Kits for TUSC3
Sources for TUSC3 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) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody