GTPBP2

Protein identityUniProt · HPA

UniProt accession

Q9BX10

Gene

GTPBP2

Ensembl

ENSG00000172432

Chromosome

6

Canonical length

602 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI 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 biologic activities.[supplied by OMIM, Jan 2003]

Canonical amino-acid sequenceUniProt

602 residues, UniProt reviewed canonical sequence.

>Q9BX10|GTPBP2
     1  MDSRVSELFG GCCRPGGGPA VGGTLKARGA GSSSGCGGPK GKKKNGRNRG GKANNPPYLP
    61  PEAEDGNIEY KLKLVNPSQY RFEHLVTQMK WRLQEGRGEA VYQIGVEDNG LLVGLAEEEM
   121  RASLKTLHRM AEKVGADITV LREREVDYDS DMPRKITEVL VRKVPDNQQF LDLRVAVLGN
   181  VDSGKSTLLG VLTQGELDNG RGRARLNLFR HLHEIQSGRT SSISFEILGF NSKGEVVNYS
   241  DSRTAEEICE SSSKMITFID LAGHHKYLHT TIFGLTSYCP DCALLLVSAN TGIAGTTREH
   301  LGLALALKVP FFIVVSKIDL CAKTTVERTV RQLERVLKQP GCHKVPMLVT SEDDAVTAAQ
   361  QFAQSPNVTP IFTLSSVSGE SLDLLKVFLN ILPPLTNSKE QEELMQQLTE FQVDEIYTVP
   421  EVGTVVGGTL SSGICREGDQ LVVGPTDDGC FLELRVCSIQ RNRSACRVLR AGQAATLALG
   481  DFDRALLRKG MVMVSPEMNP TICSVFEAEI VLLFHATTFR RGFQVTVHVG NVRQTAVVEK
   541  IHAKDKLRTG EKAVVRFRFL KHPEYLKVGA KLLFREGVTK GIGHVTDVQA ITAGEAQANM
   601  GF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTPBP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GTPBP2.

Disease | AllUniProt

Conditions GTPBP2 is implicated in, by any mechanism.

• Jaberi-Elahi syndrome (JABELS) MIM:617988

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 208 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Jaberi-Elahi syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.43

gnomAD pLI

0.32

gnomAD missense Z

3.43

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• nuclear-transcribed mRNA catabolic process, no-go decay
• rescue of stalled ribosome
• translational elongation

Molecular functions

• alpha-aminoacyl-tRNA binding
• GTP binding
• GTPase activity
• identical protein binding

Cellular components

• extracellular region
• platelet alpha granule lumen

Protein domainsUniProt · Pfam · InterPro

• Translational (tr)-type GTP-binding domain
• Translation protein, beta-barrel domain superfamily
• Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• GTP binding protein 1-like, GTP-binding domain
• Elongation factor Tu GTPase
• Elongation factor Tu GTP binding domain

KeywordsUniProt

• GTP-binding
• Intellectual disability
• Nucleotide-binding

InteractionsUniProt · HPA

Protein binding partners of GTPBP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PELO
• KDM1A
• PRMT5
• PRMT6
• SUV39H1