Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation TAS
GO:0003746 Function Translation elongation factor activity IBA 21873635
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 23455924, 32296183
GO:0005525 Function GTP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607434 4670 ENSG00000172432
Protein
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
QFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQ
VDEIYTVP
EVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEK
IHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
GF
Sequence length 602
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
25061210
Jaberi-elahi syndrome JABERI-ELAHI SYNDROME rs1554143424, rs1554143844, rs1554143448, rs1007812513, rs1252019134 25061210
Unknown
Disease term Disease name Evidence References Source
Eosinophilia Eosinophilia GWAS
Associations from Text Mining
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