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    UBN2 ubinuclein 2 [ Homo sapiens (human) ]

    Gene ID: 254048, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UBN2provided by HGNC
    Official Full Name
    ubinuclein 2provided by HGNC
    Primary source
    HGNC:HGNC:21931
    See related
    Ensembl:ENSG00000157741 MIM:613841; AllianceGenome:HGNC:21931
    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
    Summary
    Predicted to be involved in chromatin organization. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.1), skin (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBN2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (139231237..139330428)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140544524..140642706)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138915983..138992982)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18693 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138916940-138917199 Neighboring gene ribosomal protein L37a pseudogene 5 Neighboring gene mitotic spindle organizing protein 1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138979320-138979488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:138992956-138994155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139004261-139005211 Neighboring gene RNA, U6 small nuclear 206, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:139010799-139010978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139026059-139026626 Neighboring gene FMC1-LUC7L2 readthrough Neighboring gene tRNA-Arg (anticodon CCT) 4-1 Neighboring gene LUC7 like 2, pre-mRNA splicing factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18695 Neighboring gene formation of mitochondrial complex V assembly factor 1 homolog Neighboring gene MPRA-validated peak6781 silencer Neighboring gene uncharacterized LOC100129148

    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. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. Wu H, et al. Clin Genet, 2020 Feb. PMID 31674007, Free PMC Article
    2. MiR-455-3p mediates PPARα through UBN2 to promote apoptosis and autophagy in acute myeloid leukemia cells. Xie Y, et al. Exp Hematol, 2023 Dec. PMID 37805161
    3. Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. Banumathy G, et al. Mol Cell Biol, 2009 Feb. PMID 19029251, Free PMC Article
    4. Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S, et al. Nature, 2014 Nov 13. PMID 25363760, Free PMC Article
    5. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK, et al. Nat Neurosci, 2017 Apr. PMID 28263302, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-455-3p mediates PPARalpha through UBN2 to promote apoptosis and autophagy in acute myeloid leukemia cells.
      Title: MiR-455-3p mediates PPARα through UBN2 to promote apoptosis and autophagy in acute myeloid leukemia cells.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-07-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-07-24)

    ClinGen Genome Curation PagePubMed

    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

    • FLJ25778

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubinuclein-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_173569.4 → NP_775840.3  ubinuclein-2

      See identical proteins and their annotated locations for NP_775840.3

      Status: VALIDATED

      Source sequence(s)
      AC009220, AI239540, AI803206, AK125956, BM673408
      Consensus CDS
      CCDS43655.2
      UniProtKB/Swiss-Prot
      A4D1S2, Q2YDY4, Q6P1K0, Q6ZU65, Q86XN9, Q8N7D1
      Related
      ENSP00000418648.2, ENST00000473989.8
      Conserved Domains (2) summary
      pfam08729
      Location:196 → 245
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:456 → 662
      UBN_AB; Ubinuclein conserved middle domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      139231237..139330428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516003.3 → XP_011514305.1  ubinuclein-2 isoform X5

      Conserved Domains (2) summary
      pfam08729
      Location:196 → 245
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:456 → 662
      UBN_AB; Ubinuclein conserved middle domain

    2. XM_011516002.4 → XP_011514304.1  ubinuclein-2 isoform X2

      Conserved Domains (2) summary
      pfam08729
      Location:196 → 245
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:456 → 662
      UBN_AB; Ubinuclein conserved middle domain

    3. XM_006715916.5 → XP_006715979.2  ubinuclein-2 isoform X4

      Conserved Domains (2) summary
      pfam08729
      Location:162 → 211
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:422 → 628
      UBN_AB; Ubinuclein conserved middle domain

    4. XM_005250249.5 → XP_005250306.2  ubinuclein-2 isoform X1

      Conserved Domains (2) summary
      pfam08729
      Location:195 → 244
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:455 → 661
      UBN_AB; Ubinuclein conserved middle domain

    5. XM_047420101.1 → XP_047276057.1  ubinuclein-2 isoform X3

    6. XM_024446704.2 → XP_024302472.1  ubinuclein-2 isoform X6

      Conserved Domains (2) summary
      pfam08729
      Location:17 → 68
      HUN; HPC2 and ubinuclein domain
      pfam14075
      Location:271 → 485
      UBN_AB; Ubinuclein conserved middle domain

    7. XM_047420102.1 → XP_047276058.1  ubinuclein-2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      140544524..140642706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357743.1 → XP_054213718.1  ubinuclein-2 isoform X5

    2. XM_054357740.1 → XP_054213715.1  ubinuclein-2 isoform X2

    3. XM_054357742.1 → XP_054213717.1  ubinuclein-2 isoform X4

    4. XM_054357739.1 → XP_054213714.1  ubinuclein-2 isoform X1

    5. XM_054357741.1 → XP_054213716.1  ubinuclein-2 isoform X3

    6. XM_054357744.1 → XP_054213719.1  ubinuclein-2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZU65.2 GenPept UniProtKB/Swiss-Prot:Q6ZU65

    Gene LinkOut

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

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