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    LONRF2 LON peptidase N-terminal domain and ring finger 2 [ Homo sapiens (human) ]

    Gene ID: 164832, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LONRF2provided by HGNC
    Official Full Name
    LON peptidase N-terminal domain and ring finger 2provided by HGNC
    Primary source
    HGNC:HGNC:24788
    See related
    Ensembl:ENSG00000170500 AllianceGenome:HGNC:24788
    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
    RNF192
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in adrenal (RPKM 18.3), brain (RPKM 16.1) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LONRF2 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (100271875..100322501, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (100730785..100781377, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (100888337..100938963, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALF transcription elongation factor 3 Neighboring gene uncharacterized LOC105373504 Neighboring gene MPRA-validated peak3800 silencer Neighboring gene MPRA-validated peak3801 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:100483776-100484975 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:100521553-100522052 Neighboring gene Sharpr-MPRA regulatory region 9249 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:100735506-100736449 Neighboring gene fragile site, folic acid type, rare, fra(2)(q11.2) Neighboring gene long intergenic non-protein coding RNA 1104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16290 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:100865373-100866572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:100871469-100871968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:100907393-100908033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101007732-101008232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101008233-101008733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101021577-101022078 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:101028413-101028940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11815 Neighboring gene CYCS pseudogene 7 Neighboring gene carbohydrate sulfotransferase 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits. Li D, et al. Nat Aging, 2023 Aug. PMID 37474791
    2. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561
    3. CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. Kim DY, et al. Mol Cell, 2013 Feb 21. PMID 23333304, Free PMC Article
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    5. High-resolution photocatalytic mapping of SARS-CoV-2 spike interactions on the cell surface. Datta S, et al. Cell Chem Biol, 2023 Oct 19. PMID 37499664

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of LON peptidase N-terminal domain and ring finger 2 (LONRF2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45273, MGC126711, MGC126713

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    LON peptidase N-terminal domain and RING finger protein 2
    Names
    RING finger protein 192
    neuroblastoma apoptosis-related protease

    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_001371783.1 → NP_001358712.1  LON peptidase N-terminal domain and RING finger protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012493, AC104782
      Consensus CDS
      CCDS92818.1
      UniProtKB/TrEMBL
      B7ZKY9
      Conserved Domains (4) summary
      COG5574
      Location:137 → 246
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:21 → 51
      TPR; TPR repeat [structural motif]
      cd16514
      Location:203 → 244
      RING2-HC_LONFs; RING finger 2, HC subclass, found in the LON peptidase N-terminal domain and RING finger proteins family
      pfam02190
      Location:295 → 495
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

    2. NM_198461.4 → NP_940863.3  LON peptidase N-terminal domain and RING finger protein 2 isoform 1

      See identical proteins and their annotated locations for NP_940863.3

      Status: VALIDATED

      Source sequence(s)
      AC012493, AC104782
      Consensus CDS
      CCDS2046.2
      UniProtKB/Swiss-Prot
      B9A006, Q1L5Z9, Q6ZSR4
      Related
      ENSP00000377086.3, ENST00000393437.8
      Conserved Domains (6) summary
      COG5574
      Location:380 → 489
      PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:200 → 225
      TPR; TPR repeat [structural motif]
      cd16513
      Location:143 → 174
      RING1-HC_LONFs; RING finger 1, HC subclass, found in the LON peptidase N-terminal domain and RING finger proteins family
      cd16514
      Location:446 → 487
      RING2-HC_LONFs; RING finger 2, HC subclass, found in the LON peptidase N-terminal domain and RING finger proteins family
      pfam02190
      Location:538 → 738
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
      pfam13432
      Location:27 → 92
      TPR_16; Tetratricopeptide repeat

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      100271875..100322501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443537.1 → XP_047299493.1  LON peptidase N-terminal domain and RING finger protein 2 isoform X1

      UniProtKB/TrEMBL
      B7ZKY9
      Related
      ENSP00000386823.1, ENST00000409647.1

    2. XM_047443538.1 → XP_047299494.1  LON peptidase N-terminal domain and RING finger protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      100730785..100781377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1L5Z9.3 GenPept UniProtKB/Swiss-Prot:Q1L5Z9

    Gene LinkOut

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

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