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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
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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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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
not available

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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