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    GTPBP2 GTP binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 54676, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GTPBP2provided by HGNC
    Official Full Name
    GTP binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:4670
    See related
    Ensembl:ENSG00000172432 MIM:607434; AllianceGenome:HGNC:4670
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JABELS
    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 biologic activities.[supplied by OMIM, Jan 2003]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.8), esophagus (RPKM 18.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTPBP2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43620494..43631333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43449227..43460058, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43588231..43597001, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene exportin 5 Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17235 Neighboring gene small Cajal body-specific RNA 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:43514706-43515905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene DNA polymerase eta Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene MAD2L1 binding protein Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43612192-43612380 Neighboring gene radial spoke head component 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43639230-43639862 Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43655287-43655898 Neighboring gene uncharacterized LOC124901320

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. Carter MT, et al. Clin Genet, 2019 May. PMID 30790272
    2. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. Bertoli-Avella AM, et al. Eur J Hum Genet, 2018 Apr. PMID 29449720, Free PMC Article
    3. Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. Jaberi E, et al. Neurobiol Aging, 2016 Feb. PMID 26675814
    4. Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2. Zinoviev A, et al. Genes Dev, 2018 Sep 1. PMID 30108131, Free PMC Article
    5. Cloning, expression analysis, and chromosomal mapping of GTPBP2, a novel member of the G protein family. Watanabe M, et al. Gene, 2000 Oct 3. PMID 11054535

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
      Title: Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
    2. prenatal and neonatal findings as well as the first Caucasian and black African families with GTPBP2 biallelic variants, are reported.
      Title: Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
    3. Biallelic inactivating variants in the GTPBP2 were identified in two patients with severe intellectual disability and structural brain abnormalities.
      Title: Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
    4. GTPBP2 lacked elongation activity and did not stimulate exosomal degradation, indicating that GTPBP1 and GTPBP2 have different functions.
      Title: Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.
    5. It may be a novel neurodegeneration with brain iron accumulation gene.
      Title: Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Jaberi-Elahi syndrome
    MedGen: C4693848 OMIM: 617988 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC74725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alpha-aminoacyl-tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286216.2 → NP_001273145.1  GTP-binding protein 2 isoform b

      See identical proteins and their annotated locations for NP_001273145.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK290267, BC020980
      Consensus CDS
      CCDS69124.1
      UniProtKB/TrEMBL
      A8K2K2
      Related
      ENSP00000304893.7, ENST00000307114.11
      Conserved Domains (1) summary
      COG5258
      Location:1 → 500
      GTPBP1; GTPase [General function prediction only]

    2. NM_019096.5 → NP_061969.3  GTP-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_061969.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL353602, BC064968, CN263880
      Consensus CDS
      CCDS4903.1
      UniProtKB/Swiss-Prot
      Q5T7E8, Q8ND84, Q8TAH7, Q8WUA5, Q9BX10, Q9HCS9, Q9NRU4, Q9NX60
      UniProtKB/TrEMBL
      A8K2K2
      Related
      ENSP00000303997.5, ENST00000307126.10
      Conserved Domains (1) summary
      COG5258
      Location:59 → 588
      GTPBP1; GTPase [General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43620494..43631333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446476.2 → XP_024302244.1  GTP-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A8K2K2
      Conserved Domains (1) summary
      cl27768
      Location:7 → 540
      SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]

    2. XM_024446478.2 → XP_024302246.1  GTP-binding protein 2 isoform X3

      UniProtKB/TrEMBL
      A8K2K2
      Related
      ENST00000476510.5
      Conserved Domains (1) summary
      COG5258
      Location:1 → 500
      GTPBP1; GTPase [General function prediction only]

    3. XM_047418938.1 → XP_047274894.1  GTP-binding protein 2 isoform X2

    4. XM_024446477.2 → XP_024302245.1  GTP-binding protein 2 isoform X3

      UniProtKB/TrEMBL
      A8K2K2
      Conserved Domains (1) summary
      COG5258
      Location:1 → 500
      GTPBP1; GTPase [General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43449227..43460058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355729.1 → XP_054211704.1  GTP-binding protein 2 isoform X1

    2. XM_054355730.1 → XP_054211705.1  GTP-binding protein 2 isoform X2

    3. XM_054355732.1 → XP_054211707.1  GTP-binding protein 2 isoform X3

    4. XM_054355731.1 → XP_054211706.1  GTP-binding protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BX10.1 GenPept UniProtKB/Swiss-Prot:Q9BX10

    Gene LinkOut

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