Aliases for GTPBP3 Gene
Aliases for GTPBP3 Gene
External Ids for GTPBP3 Gene
- HGNC: 14880
- Entrez Gene: 84705
- Ensembl: ENSG00000130299
- OMIM: 608536
- UniProtKB: Q969Y2
Previous GeneCards Identifiers for GTPBP3 Gene
- GC19P017309
- GC19P017448
- GC19P017014
- GC19P017529
- GC19P017903
- GC19P017503
- GC19P017697
- GC19P017720
- GC19P018289
- GC19P018689
- GC19P018999
- GC19P019317
- GC19P019654
Summaries for GTPBP3 Gene
-
This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
GeneCards Summary for GTPBP3 Gene
GTPBP3 (GTP Binding Protein 3, Mitochondrial) is a Protein Coding gene. Diseases associated with GTPBP3 include Combined Oxidative Phosphorylation Deficiency 23 and Lactic Acidosis. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity.
UniProtKB/Swiss-Prot for GTPBP3 Gene
-
GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
Additional gene information for GTPBP3 Gene
- Monarch Initiative
- Search for GTPBP3 at DataMed
- Search for GTPBP3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTPBP3 Gene
Genomics for GTPBP3 Gene
GeneHancer (GH) Regulatory Elements for GTPBP3 Gene
Promoters and enhancers for GTPBP3 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 GTPBP3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GTPBP3 gene promoter:
-
- E2F-1
- E2F
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Nkx2-5
- Olf-1
- FOXO1
- FOXO1a
Regulatory Element Products
Genomic Locations for GTPBP3 Gene
Genomic Locations for GTPBP3 Gene
- chr19:17,334,920-17,342,735
- (GRCh38/hg38)
- Size:
- 7,816 bases
- Orientation:
- Plus strand
- chr19:17,445,729-17,453,544
- (GRCh37/hg19)
- Size:
- 7,816 bases
- Orientation:
- Plus strand
Genomic View for GTPBP3 Gene
Genes around GTPBP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
- 19p13.11 by Ensembl
GTPBP3 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 GTPBP3 Gene
Proteins for GTPBP3 Gene
-
Protein details for GTPBP3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q969Y2-GTPB3_HUMAN
- Recommended name:
- tRNA modification GTPase GTPBP3, mitochondrial
- Protein Accession:
- Q969Y2
- A6NFH1
- A6NIG5
- A6NKR4
- A8K7B4
- B7Z4V8
- Q8TCY6
- Q8WUW9
- Q969G4
- Q9BX61
Protein attributes for GTPBP3 Gene
- Size:
- 492 amino acids
- Molecular mass:
- 52058 Da
- Quaternary structure:
- No Data Available
Protein Expression for GTPBP3 Gene
Post-translational modifications for GTPBP3 Gene
Other Protein References for GTPBP3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GTPBP3
-
Abcam antibodies for GTPBP3
- Invitrogen Antibodies for GTPBP3 (AFLGC-GTPBP3)
- GeneTex GTPBP3 Antibody for GTPBP3
Protein Products
-
OriGene Purified Proteins for GTPBP3
- Search Origene for MassSpec and Protein Over-expression Lysates for GTPBP3
- Origene Custom Protein Services for GTPBP3
- Search GeneTex for Proteins for GTPBP3
-
Abcam proteins for GTPBP3
Assay Products
- antibodies-online: Search results for 3 available PSMC2 Elisa Kits ranked by validation data
- Compare Top PSMC2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for GTPBP3 Gene
Domains & Families for GTPBP3 Gene
Gene Families for GTPBP3 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for GTPBP3 Gene
Suggested Antigen Peptide Sequences for GTPBP3 Gene
Graphical View of Domain Structure for InterPro Entry
Q969Y2UniProtKB/Swiss-Prot:
GTPB3_HUMAN :- Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
- Family:
-
- Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
Function for GTPBP3 Gene
Molecular function for GTPBP3 Gene
- UniProtKB/Swiss-Prot Function:
- GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
Phenotypes From GWAS Catalog for GTPBP3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003924 | GTPase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0005525 | GTP binding | IEA | -- |
Phenotypes for GTPBP3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GTPBP3
-
CRISPR Products
-
OriGene CRISPR knockouts for GTPBP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTPBP3
- genomics-online: gRNA clones - Search results for 115 available PSMC2 gene related products
- Overview of 115 available PSMC2 gene related products
- Applied Biological Materials CRISPR for GTPBP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTPBP3
- GenScript: Design CRISPR guide RNA sequences for GTPBP3
miRNA for GTPBP3 Gene
- miRTarBase miRNAs that target GTPBP3
-
- hsa-let-7b-5p (MIRT001627)
- hsa-mir-3622a-3p (MIRT081397)
- hsa-mir-3622b-3p (MIRT081398)
- hsa-mir-4682 (MIRT081399)
- hsa-mir-2681-5p (MIRT567369)
- hsa-mir-4777-5p (MIRT567370)
- hsa-mir-526a (MIRT567371)
- hsa-mir-523-5p (MIRT567372)
- hsa-mir-522-5p (MIRT567373)
- hsa-mir-520c-5p (MIRT567374)
- hsa-mir-519c-5p (MIRT567375)
- hsa-mir-519b-5p (MIRT567376)
- hsa-mir-519a-5p (MIRT567377)
- hsa-mir-518f-5p (MIRT567378)
- hsa-mir-518e-5p (MIRT567379)
- hsa-mir-518d-5p (MIRT567380)
- hsa-mir-6765-3p (MIRT567381)
- hsa-mir-5694 (MIRT567382)
- hsa-mir-383-5p (MIRT567383)
- hsa-mir-4262 (MIRT567384)
- hsa-mir-181d-5p (MIRT567385)
- hsa-mir-181c-5p (MIRT567386)
- hsa-mir-181b-5p (MIRT567387)
- hsa-mir-181a-5p (MIRT567388)
- hsa-mir-181a-2-3p (MIRT762960)
- hsa-mir-377-5p (MIRT767405)
- hsa-mir-455-3p (MIRT770332)
- hsa-mir-6086 (MIRT775536)
- hsa-mir-6516-5p (MIRT777130)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTPBP3
- Browse OriGene Inhibitory RNA Products For GTPBP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP3
- genomics-online: shRNA clones - Search results for 115 available PSMC2 gene related products
- Overview of 115 available PSMC2 gene related products
Clone Products
-
OriGene ORF clones in human for GTPBP3
- RC200836
- RC200836L1
- RC200836L2
- RC200836L3
- RC200836L4
- RC217694
- RC217694L1
- RC217694L2
- RC217694L3
- RC217694L4
- RC225798
- RC225798L1
- RC225798L2
- RC225798L3
- RC225798L4
- RC231285
- RC231285L1
- RC231285L2
- RC231285L3
- RC231285L4
- RC500836
- RG200836
- RG217694
- RG225798
- RG231285
- RC200836L1V
- RC200836L2V
- RC200836L3V
- RC200836L4V
- RC217694L1V
- RC217694L2V
- RC217694L3V
- RC217694L4V
- RC225798L1V
- RC225798L2V
- RC225798L3V
- RC225798L4V
- RC231285L1V
- RC231285L2V
- RC231285L3V
- RC231285L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GTPBP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTPBP3
- Applied Biological Materials Clones for GTPBP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for GTPBP3
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GTPBP3 Gene
Localization for GTPBP3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GTPBP3 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 2 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
Pathways & Interactions for GTPBP3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for GTPBP3 Gene
3 Reactome pathways for GTPBP3 Gene
Interacting Proteins for GTPBP3 Gene
Selected Interacting proteins:
ENSP00000351644
Q969Y2-GTPB3_HUMAN
for GTPBP3 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for GTPBP3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002098 | tRNA wobble uridine modification | IBA | -- |
| GO:0006400 | tRNA modification | IEA | -- |
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0030488 | tRNA methylation | IBA | -- |
| GO:0048568 | embryonic organ development | IBA | -- |
No data available for SIGNOR curated interactions for GTPBP3 Gene
Drugs & Compounds for GTPBP3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for GTPBP3 Gene
mRNA/cDNA for GTPBP3 Gene
- (4) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (131) Selected AceView cDNA sequences:
- (28) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000361619 1894 bps (uc010xpo.3)
- ENST00000598532 564 bps (uc060vhc.1)
- ENST00000601213 584 bps (uc060vhd.1)
- ENST00000595381 571 bps (uc060vhe.1)
- ENST00000594345 1004 bps (uc060vhf.1)
Unigene Clusters for GTPBP3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GTPBP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTPBP3
- genomics-online: gRNA clones - Search results for 115 available PSMC2 gene related products
- Overview of 115 available PSMC2 gene related products
- Applied Biological Materials CRISPR for GTPBP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTPBP3
- GenScript: Design CRISPR guide RNA sequences for GTPBP3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTPBP3
- Browse OriGene Inhibitory RNA Products For GTPBP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP3
- genomics-online: shRNA clones - Search results for 115 available PSMC2 gene related products
- Overview of 115 available PSMC2 gene related products
Clone Products
-
OriGene ORF clones in human for GTPBP3
- RC200836
- RC200836L1
- RC200836L2
- RC200836L3
- RC200836L4
- RC217694
- RC217694L1
- RC217694L2
- RC217694L3
- RC217694L4
- RC225798
- RC225798L1
- RC225798L2
- RC225798L3
- RC225798L4
- RC231285
- RC231285L1
- RC231285L2
- RC231285L3
- RC231285L4
- RC500836
- RG200836
- RG217694
- RG225798
- RG231285
- RC200836L1V
- RC200836L2V
- RC200836L3V
- RC200836L4V
- RC217694L1V
- RC217694L2V
- RC217694L3V
- RC217694L4V
- RC225798L1V
- RC225798L2V
- RC225798L3V
- RC225798L4V
- RC231285L1V
- RC231285L2V
- RC231285L3V
- RC231285L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for GTPBP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTPBP3
- Applied Biological Materials Clones for GTPBP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: |
| ExUns: | 10c | · | 10d | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | |||||||||
| SP3: | |||||||||
| SP4: | |||||||||
| SP5: | |||||||||
| SP6: | |||||||||
| SP7: | |||||||||
| SP8: | |||||||||
| SP9: | |||||||||
| SP10: | |||||||||
| SP11: | |||||||||
| SP12: | |||||||||
| SP13: | |||||||||
| SP14: | |||||||||
| SP15: |
Expression for GTPBP3 Gene
This gene is overexpressed in Adrenal (34.8) and Peripheral blood mononuclear cells (12.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTPBP3 Gene
NURSA nuclear receptor signaling pathways regulating expression of GTPBP3 Gene:
GTPBP3SOURCE GeneReport for Unigene cluster for GTPBP3 Gene:
Hs.334885mRNA Expression by UniProt/SwissProt for GTPBP3 Gene:
Q969Y2-GTPB3_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for GTPBP3 Gene
- Nervous system(4.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GTPBP3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- ear
Thorax:
- heart
- heart valve
- lung
General:
- blood vessel
Primer Products
-
OriGene qPCR primer pairs for GTPBP3
- genomics-online: primer clones - Search results for 115 available PSMC2 gene related products
- Overview of 115 available PSMC2 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTPBP3 Gene
Orthologs for GTPBP3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GTPBP3 34 |
|
OneToOne | |
| LOC748414 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | GTPBP3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GTPBP3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gtpbp3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gtpbp3 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GTPBP3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | mdo-mir-7295 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC100857447 33 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gtpbp3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gtpbp3 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG18528 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002133 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F39B2.7 34 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR063C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSS1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E07657g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G78010 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04149 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | mss1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.7936 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7936 33 |
|
- Species where no ortholog for GTPBP3 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- lizard (Anolis carolinensis)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for GTPBP3 Gene
- ENSEMBL:
- Gene Tree for GTPBP3 (if available)
- TreeFam:
- Gene Tree for GTPBP3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GTPBP3: view image
Paralogs for GTPBP3 Gene
No data available for Paralogs for GTPBP3 Gene
Variants for GTPBP3 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP3 Gene
- GTPB3_HUMAN-Q969Y2
- Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIM:580000]. AID is characterized by deafness, varying from profond congenital hearing loss to normal hearing, and is caused by homoplasmic A1555G mutation in the mitochondrial 12S rRNA. Val-250 may affect the accuracy of codon-anticodon interaction, leading to modulate the translational efficiency and thereby affecting the severity of deafness in patients homozygous for 12S rRNA A1555G mutation.
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs372174278 | pathogenic, Combined oxidative phosphorylation deficiency 23 | 17,339,589(+) | G/C/T | coding_sequence_variant, missense_variant | |
| rs373370177 | Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] | 17,339,123(+) | C/A/G | coding_sequence_variant, missense_variant | |
| rs730880255 | pathogenic, Combined oxidative phosphorylation deficiency 23, Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198] | 17,338,626(+) | A/T | coding_sequence_variant, missense_variant | |
| rs770871640 | likely-pathogenic, Combined oxidative phosphorylation deficiency 23 | 17,341,181(+) | T/C | coding_sequence_variant, missense_variant | |
| rs774708853 | likely-pathogenic, Combined oxidative phosphorylation deficiency 23 | 17,338,590(+) | C/T | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.18;
69.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GTPBP3 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for GTPBP3 Gene
(4) MalaCards diseases for GTPBP3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 23 |
|
|
| lactic acidosis |
|
|
| mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes |
|
|
| hypertrophic cardiomyopathy |
|
|
Search GTPBP3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GTPB3_HUMAN- Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]: An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life. {ECO:0000269 PubMed:25434004, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GTPBP3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GTPBP3 Gene
Publications for GTPBP3 Gene
- Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. (PMID: 15542390) Bykhovskaya Y … Fischel-Ghodsian N (Molecular genetics and metabolism 2004) 3 4 22 58
- A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. (PMID: 12370316) Li X … Guan MX (Molecular and cellular biology 2002) 3 4 22 58
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (PMID: 25434004) Kopajtich R … Prokisch H (American journal of human genetics 2014) 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 44 58
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Sources for GTPBP3 Gene
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