GTPBP2 (GTP binding protein 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 54676
Gene name GTP binding protein 2
Gene symbol GTPBP2
Synonyms (NCBI Gene)
JABELS
Chromosome 6
Chromosome location 6p21.1
Summary 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.
5
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.
624
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607434 4670 ENSG00000172432
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Jaberi-Elahi syndrome Likely pathogenic; Pathogenic rs2127838700, rs2127840239, rs764897448, rs745610059, rs1409184000, rs1554143424, rs1554143844, rs1554143448, rs1007812513, rs1252019134, rs1768790302 RCV001782238
RCV001807965
RCV002281893
RCV002281894
RCV002810018
RCV000655889
RCV000655890
RCV000655891
RCV000655892
RCV000985150
RCV001251123
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs199987351 RCV005930576
GTPBP2-related disorder Likely benign; Benign rs773412370, rs141450600, rs779516570, rs773905180, rs1460347555 RCV003984216
RCV003954053
RCV003961273
RCV003901538
RCV003917207
Intellectual disability Uncertain significance rs2532606833 RCV003994614
Lung cancer Benign rs60839800 RCV005923462
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease 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