GTPBP2 (GTP binding protein 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54676
Gene name Gene Name - the full gene name approved by the HGNC.
GTP binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GTPBP2
Synonyms (NCBI Gene) Gene synonyms aliases
JABELS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biolog
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs1007812513 G>A Pathogenic Coding sequence variant, stop gained
rs1252019134 C>T Likely-pathogenic Splice donor variant
rs1554143424 C>A Pathogenic Splice acceptor variant
rs1554143448 G>A Pathogenic Coding sequence variant, stop gained
rs1554143844 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(624)
miRTarBase ID miRNA Experiments Reference
MIRT036558 hsa-miR-942-5p CLASH 23622248
MIRT509822 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT509827 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT360934 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT509826 hsa-miR-501-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003746 Function Translation elongation factor activity IDA 30108131
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 23455924, 32296183
GO:0005525 Function GTP binding IDA 30108131
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607434 4670 ENSG00000172432
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BX10
Protein name GTP-binding protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 172 → 412 Elongation factor Tu GTP binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary. {ECO:0000269|PubMed:11054535}.
Sequence 
MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLP
PEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEM
RASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGN
VDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYS
DSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREH
LGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQ
QFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVP
EVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEK
IHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
GF
Sequence length 602
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
JABERI-ELAHI SYNDROME jaberi-elahi syndrome rs1554143424, rs1554143844, rs1554143448, rs1007812513, rs1252019134 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 29449720
Developmental Disabilities Associate 29449720
Intellectual Disability Associate 29449720
Iron Deficiencies Associate 29449720
Neoplasms Associate 35320117
Neuroferritinopathy Associate 35180557
Neurologic Manifestations Associate 29449720
Pantothenate Kinase Associated Neurodegeneration Associate 39419454