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    GNL2 G protein nucleolar 2 [ Homo sapiens (human) ]

    Gene ID: 29889, updated on 9-Jun-2024

    Summary

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    Official Symbol
    GNL2provided by HGNC
    Official Full Name
    G protein nucleolar 2provided by HGNC
    Primary source
    HGNC:HGNC:29925
    See related
    Ensembl:ENSG00000134697 MIM:609365; AllianceGenome:HGNC:29925
    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
    NGP1; Nog2; Nug2; Ngp-1; HUMAUANTIG
    Summary
    Enables RNA binding activity. Predicted to be involved in ribosome biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 19.5), bone marrow (RPKM 14.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNL2 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37566816..37595937, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37431567..37460686, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38032417..38061538, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Smad nuclear interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38021148-38022118 Neighboring gene Sharpr-MPRA regulatory region 12224 Neighboring gene ferritin heavy chain 1 pseudogene 1 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:38033816-38035015 Neighboring gene dynein axonemal light intermediate chain 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:38041731-38042930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 771 Neighboring gene Sharpr-MPRA regulatory region 1638 Neighboring gene Sharpr-MPRA regulatory region 1490 Neighboring gene R-spondin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38096333-38096846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38098855-38099382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38099911-38100438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38100439-38100965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38126219-38126852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38128815-38129348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38129349-38129881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38132271-38132990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38156929-38157439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38157440-38157949 Neighboring gene AFG2 interacting ribosome maturation factor

    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
    • 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. Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer. Nakamura K, et al. Am J Hum Genet, 2022 Jan 6. PMID 34965383, Free PMC Article
    2. Study of the G Protein Nucleolar 2 Value in Liver Hepatocellular Carcinoma Treatment and Prognosis. Dong Y, et al. Biomed Res Int, 2021. PMID 34337013, Free PMC Article
    3. Cloning of a novel nucleolar guanosine 5'-triphosphate binding protein autoantigen from a breast tumor. Racevskis J, et al. Cell Growth Differ, 1996 Feb. PMID 8822211
    4. Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals. Casadio A, et al. EMBO Rep, 2015 Jan. PMID 25452588, Free PMC Article
    5. Nucleolar GTP-binding Protein-1 (NGP-1) Promotes G1 to S Phase Transition by Activating Cyclin-dependent Kinase Inhibitor p21 Cip1/Waf1. Datta D, et al. J Biol Chem, 2015 Aug 28. PMID 26203195, Free PMC Article

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.
      Title: Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.
    2. Study of the G Protein Nucleolar 2 Value in Liver Hepatocellular Carcinoma Treatment and Prognosis.
      Title: Study of the G Protein Nucleolar 2 Value in Liver Hepatocellular Carcinoma Treatment and Prognosis.
    3. NGP-1 promotes cell cycle progression through the activation of the p53/p21(Cip-1/Waf1) pathway.
      Title: Nucleolar GTP-binding Protein-1 (NGP-1) Promotes G1 to S Phase Transition by Activating Cyclin-dependent Kinase Inhibitor p21 Cip1/Waf1.
    4. GNL2 and SEC13 are required for nonsense-mediated mRNA decay pathway in human cells.
      Title: Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals.
    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

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40906

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nucleolar GTP-binding protein 2
    Names
    autoantigen NGP-1
    guanine nucleotide binding protein-like 2 (nucleolar)
    novel nucleolar guanosine 5'-triphosphate binding protein autoantigen
    nucleolar G-protein gene 1
    nucleolar GTPase
    nucleostemin-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_001323623.2 → NP_001310552.1  nucleolar GTP-binding protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL034379, AL513220
      Conserved Domains (4) summary
      cd01858
      Location:209 → 433
      NGP_1; A novel nucleolar GTP-binding protein, circularly permuted subfamily of the Ras GTPases
      COG0711
      Location:661 → 756
      AtpF; FoF1-type ATP synthase, membrane subunit b or b' [Energy production and conversion]
      COG1161
      Location:190 → 534
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]
      pfam08153
      Location:44 → 174
      NGP1NT; NGP1NT (NUC091) domain

    2. NM_001323624.2 → NP_001310553.1  nucleolar GTP-binding protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL034379, AL513220

    3. NM_013285.3 → NP_037417.1  nucleolar GTP-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_037417.1

      Status: VALIDATED

      Source sequence(s)
      AA766044, BC009250, DB452094
      Consensus CDS
      CCDS421.1
      UniProtKB/Swiss-Prot
      Q13823, Q9BWN7
      UniProtKB/TrEMBL
      Q5T0F3
      Related
      ENSP00000362153.3, ENST00000373062.8
      Conserved Domains (4) summary
      cd01858
      Location:209 → 365
      NGP_1; A novel nucleolar GTP-binding protein, circularly permuted subfamily of the Ras GTPases
      COG0711
      Location:593 → 688
      AtpF; FoF1-type ATP synthase, membrane subunit b or b' [Energy production and conversion]
      COG1160
      Location:316 → 421
      Der; Predicted GTPases [General function prediction only]
      pfam08153
      Location:43 → 174
      NGP1NT; NGP1NT (NUC091) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      37566816..37595937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446591.2 → XP_024302359.1  nucleolar GTP-binding protein 2 isoform X1

      Conserved Domains (3) summary
      cd01858
      Location:50 → 274
      NGP_1; A novel nucleolar GTP-binding protein, circularly permuted subfamily of the Ras GTPases
      cl26335
      Location:59 → 365
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]
      cl28522
      Location:502 → 597
      AtpF; FoF1-type ATP synthase, membrane subunit b or b' [Energy production and conversion]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37431567..37460686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336183.1 → XP_054192158.1  nucleolar GTP-binding protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13823.1 GenPept UniProtKB/Swiss-Prot:Q13823

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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