• Gene id: 54676

Gene Summary

• Gene Symbol: GTPBP2   Gene   UCSC   Ensembl
• Aliases: JABELS
• Gene name: GTP binding protein 2
• Alternate names: GTP-binding protein 2,
• Gene location: 6p21.1 (43631308: 43620480)     Exons: 16     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 606598

Protein Summary

• Protein general information: Q9BX10  
  • Name: GTP binding protein 2
  • Length: 602  
  • Mass: 65768
  • Tissue specificity: Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary. {ECO
• Sequence:

  MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLPPEAEDGNIEYKLKLV
  NPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDS
  DMPRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISF
  EILGFNSKGEVVNYSDSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREH
  LGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNVTPIFTLS
  SVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGC
  FLELRVCSIQRNRSACRVLRAGQAATLALGDFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQV
  TVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
  GF

• Structural information:
  • Protein Domains: (170..39-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR035531  IPR027417  IPR000795  IPR009000  IPR009001  
  • Prosite: PS51722
  • CDD: cd04165
  • STRING: ENSP00000303997
• Other Databases: GeneCards:  GTPBP2  Malacards:  GTPBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0006414	translational elongation	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072344	rescue of stalled ribosome	IEA	biological process
GO:0070966	nuclear-transcribed mRNA catabolic process, no-go decay	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R