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    GPN2 GPN-loop GTPase 2 [ Homo sapiens (human) ]

    Gene ID: 54707, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GPN2provided by HGNC
    Official Full Name
    GPN-loop GTPase 2provided by HGNC
    Primary source
    HGNC:HGNC:25513
    See related
    Ensembl:ENSG00000142751 AllianceGenome:HGNC:25513
    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
    ATPBD1B
    Summary
    Predicted to enable GTPase activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 6.7), duodenum (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPN2 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26876132..26890283, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26714196..26728346, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27202623..27216774, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27152961-27153113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 523 Neighboring gene zinc finger DHHC-type palmitoyltransferase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 525 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27179723-27180224 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27181471-27181643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27189325-27190204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 527 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27195686-27195844 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:27198339-27199538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27201365-27201864 Neighboring gene stratifin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27215935-27216812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 529 Neighboring gene G-patch domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27232113-27232613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27232651-27233152 Neighboring gene nuclear distribution C, dynein complex regulator Neighboring gene nuclear receptor subfamily 0 group B member 2

    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. Gpn2 and Rba50 Directly Participate in the Assembly of the Rpb3 Subcomplex in the Biogenesis of RNA Polymerase II. Zeng F, et al. Mol Cell Biol, 2018 Jul 1. PMID 29661922, Free PMC Article
    2. Npa3 interacts with Gpn3 and assembly factor Rba50 for RNA polymerase II biogenesis. Liu X, et al. FASEB J, 2020 Nov. PMID 32985767
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. Rodriguez J, et al. Cell Rep, 2016 Mar 22. PMID 26972000, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10349

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GPN-loop GTPase 2
    Names
    ATP-binding domain 1 family member B

    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_018066.4 → NP_060536.3  GPN-loop GTPase 2

      Status: VALIDATED

      Source sequence(s)
      AK001211, AL034380, BC007815
      Consensus CDS
      CCDS289.1
      UniProtKB/Swiss-Prot
      Q96HG4, Q9H9Y4, Q9NUE1, Q9NW30
      Related
      ENSP00000363250.3, ENST00000374135.9
      Conserved Domains (2) summary
      COG1100
      Location:13 → 182
      Gem1; GTPase SAR1 family domain [General function prediction only]
      pfam03029
      Location:14 → 261
      ATP_bind_1; Conserved hypothetical ATP binding protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      26876132..26890283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      26714196..26728346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9Y4.2 GenPept UniProtKB/Swiss-Prot:Q9H9Y4

    Gene LinkOut

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

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