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UBN2 ubinuclein 2 [ Homo sapiens (human) ]

Gene ID: 254048, updated on 11-Apr-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 DNA replication-independent chromatin assembly. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.1), skin (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q34
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (139231237..139330428)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140544524..140642706)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138915983..138992982)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901756 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 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. 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
  2. Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S, et al. Nature, 2014 Nov 13. PMID 25363760, Free PMC Article
  3. 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
  4. The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I, et al. Nature, 2014 Nov 13. PMID 25363768, Free PMC Article
  5. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Pieragostino D, et al. Mol Biosyst, 2013 Jun. PMID 23580065

See all (37) 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

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

  • FLJ25778

Gene Ontology Provided by GOA

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_2023_10

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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