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] See more...

Aliases for GTPBP2 Gene

Aliases for GTPBP2 Gene

  • GTP Binding Protein 2 2 3 5
  • GTP-Binding Protein 2 3 4
  • JABELS 3

External Ids for GTPBP2 Gene

Previous GeneCards Identifiers for GTPBP2 Gene

  • GC06M043590
  • GC06M043634
  • GC06M043695
  • GC06M043307
  • GC06M043573

Summaries for GTPBP2 Gene

Entrez Gene Summary for GTPBP2 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]

GeneCards Summary for GTPBP2 Gene

GTPBP2 (GTP Binding Protein 2) is a Protein Coding gene. Diseases associated with GTPBP2 include Jaberi-Elahi Syndrome and Microcephaly. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GTPBP1.

Additional gene information for GTPBP2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTPBP2 Gene

Genomics for GTPBP2 Gene

GeneHancer (GH) Regulatory Elements for GTPBP2 Gene

Promoters and enhancers for GTPBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTPBP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTPBP2

Top Transcription factor binding sites by QIAGEN in the GTPBP2 gene promoter:
  • c-Myc
  • Max1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for GTPBP2 Gene

Genomic Locations for GTPBP2 Gene
chr6:43,605,316-43,629,264
(GRCh38/hg38)
Size:
23,949 bases
Orientation:
Minus strand
chr6:43,573,053-43,596,936
(GRCh37/hg19)
Size:
23,884 bases
Orientation:
Minus strand

Genomic View for GTPBP2 Gene

Genes around GTPBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTPBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTPBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTPBP2 Gene

Proteins for GTPBP2 Gene

  • Protein details for GTPBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX10-GTPB2_HUMAN
    Recommended name:
    GTP-binding protein 2
    Protein Accession:
    Q9BX10
    Secondary Accessions:
    • Q5T7E8
    • Q8ND84
    • Q8TAH7
    • Q8WUA5
    • Q9HCS9
    • Q9NRU4
    • Q9NX60

    Protein attributes for GTPBP2 Gene

    Size:
    602 amino acids
    Molecular mass:
    65768 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD38999.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GTPBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTPBP2 Gene

Post-translational modifications for GTPBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GTPBP2 Gene

Domains & Families for GTPBP2 Gene

Gene Families for GTPBP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTPBP2 Gene

Blocks:
  • Elongation factor Tu, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTPBP2 Gene

GenScript: Design optimal peptide antigens:
  • GTP-binding protein 2 (GTPB2_HUMAN)
  • GTP binding protein 2 (Q5T7E4_HUMAN)
  • GTP binding protein 2 (Q5T7E5_HUMAN)
  • GTP binding protein 2 (Q5T7E9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX10

UniProtKB/Swiss-Prot:

GTPB2_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.
genes like me logo Genes that share domains with GTPBP2: view

Function for GTPBP2 Gene

Molecular function for GTPBP2 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated by IFNG/IFN-gamma in human monocytic cell line THP-1.

Phenotypes From GWAS Catalog for GTPBP2 Gene

Gene Ontology (GO) - Molecular Function for GTPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IBA 21873635
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 23455924
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GTPBP2: view
genes like me logo Genes that share phenotypes with GTPBP2: view

Human Phenotype Ontology for GTPBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GTPBP2 Gene

MGI Knock Outs for GTPBP2:

Animal Model Products

CRISPR Products

miRNA for GTPBP2 Gene

miRTarBase miRNAs that target GTPBP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GTPBP2 Gene

Localization for GTPBP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTPBP2 gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GTPBP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GTPBP2 Gene

Pathways & Interactions for GTPBP2 Gene

genes like me logo Genes that share pathways with GTPBP2: view

Gene Ontology (GO) - Biological Process for GTPBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006414 translational elongation IBA 21873635
GO:0008150 biological_process ND --
GO:0070966 nuclear-transcribed mRNA catabolic process, no-go decay IEA --
GO:0072344 rescue of stalled ribosome IEA --
genes like me logo Genes that share ontologies with GTPBP2: view

No data available for SIGNOR curated interactions for GTPBP2 Gene

Drugs & Compounds for GTPBP2 Gene

(1) Drugs for GTPBP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GTPBP2: view

Transcripts for GTPBP2 Gene

mRNA/cDNA for GTPBP2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTPBP2 Gene

No ASD Table

Relevant External Links for GTPBP2 Gene

GeneLoc Exon Structure for
GTPBP2

Expression for GTPBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTPBP2 Gene

Protein differential expression in normal tissues from HIPED for GTPBP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (43.2) and Platelet (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTPBP2 Gene



Protein tissue co-expression partners for GTPBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTPBP2

SOURCE GeneReport for Unigene cluster for GTPBP2 Gene:

Hs.485449

mRNA Expression by UniProt/SwissProt for GTPBP2 Gene:

Q9BX10-GTPB2_HUMAN
Tissue specificity: Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary.
genes like me logo Genes that share expression patterns with GTPBP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTPBP2 Gene

Orthologs for GTPBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTPBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTPBP2 31 30
  • 99.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTPBP2 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTPBP2 31 30
  • 94.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTPBP2 31 30
  • 93.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gtpbp2 17 31 30
  • 92.8 (n)
rat
(Rattus norvegicus)
Mammalia Gtpbp2 30
  • 92.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GTPBP2 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTPBP2 31 30
  • 79.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTPBP2 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtpbp2 30
  • 78.53 (n)
Str.17656 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.18977 30
zebrafish
(Danio rerio)
Actinopterygii gtpbp2 31 30
  • 74.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005294 30
  • 59.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2017 31 32 30
  • 57.92 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_T04H1.2 30
  • 48.36 (n)
T04H1.2 31 32
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10822 31
  • 56 (a)
OneToOne
Cin.2777 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2777 30
Species where no ortholog for GTPBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTPBP2 Gene

ENSEMBL:
Gene Tree for GTPBP2 (if available)
TreeFam:
Gene Tree for GTPBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTPBP2: view image

Paralogs for GTPBP2 Gene

(1) SIMAP similar genes for GTPBP2 Gene using alignment to 5 proteins:

  • GTPB2_HUMAN
  • H0Y4M5_HUMAN
  • H0Y5J1_HUMAN
  • H0Y7A5_HUMAN
  • H0YF05_HUMAN
genes like me logo Genes that share paralogs with GTPBP2: view

Variants for GTPBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTPBP2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
787832 Benign: not provided 43,625,813(-) G/A SYNONYMOUS_VARIANT
789287 Benign: not provided 43,621,680(-) G/A SYNONYMOUS_VARIANT
789747 Benign: not provided 43,626,216(-) G/C INTRON_VARIANT
800941 Likely Pathogenic: JABERI-ELAHI SYNDROME 43,623,932(-) C/T SPLICE_DONOR_VARIANT
rs1007812513 Pathogenic: JABERI-ELAHI SYNDROME 43,622,692(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for GTPBP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GTPBP2 Gene

Variant ID Type Subtype PubMed ID
nsv5281 CNV deletion 18451855

Variation tolerance for GTPBP2 Gene

Residual Variation Intolerance Score: 7.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTPBP2 Gene

Human Gene Mutation Database (HGMD)
GTPBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTPBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP2 Gene

Disorders for GTPBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GTPBP2 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
jaberi-elahi syndrome
  • jabels
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GTPB2_HUMAN
  • Jaberi-Elahi syndrome (JABELS) [MIM:617988]: An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. {ECO:0000269 PubMed:26675814, ECO:0000269 PubMed:29449720}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GTPBP2

genes like me logo Genes that share disorders with GTPBP2: view

No data available for Genatlas for GTPBP2 Gene

Publications for GTPBP2 Gene

  1. Cloning, expression analysis, and chromosomal mapping of GTPBP2, a novel member of the G protein family. (PMID: 11054535) Watanabe M … Sugano S (Gene 2000) 2 3 4 54
  2. Mouse and human GTPBP2, newly identified members of the GP-1 family of GTPase. (PMID: 10833435) Kudo H … Nishimura Y (Biochemical and biophysical research communications 2000) 2 3 4 54
  3. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. (PMID: 29449720) Bertoli-Avella AM … Bauer P (European journal of human genetics : EJHG 2018) 3 4 54
  4. Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. (PMID: 26675814) Jaberi E … Elahi E (Neurobiology of aging 2016) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GTPBP2 Gene