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UBN2 ubinuclein 2 [ Homo sapiens (human) ]

Gene ID: 254048, updated on 4-Jul-2021

Summary

Official Symbol
UBN2provided by HGNC
Official Full Name
ubinuclein 2provided by HGNC
Primary source
HGNC:HGNC:21931
See related
Ensembl:ENSG00000157741 MIM:613841
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
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

See UBN2 in Genome Data Viewer
Location:
7q34
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (139228408..139329421)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138915983..138992982)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene FCF1 pseudogene 11 Neighboring gene ribosomal protein L37a pseudogene 5 Neighboring gene RNA, U6 small nuclear 206, pseudogene Neighboring gene FMC1-LUC7L2 readthrough Neighboring gene tRNA-Arg (anticodon CCT) 4-1 Neighboring gene LUC7 like 2, pre-mRNA splicing factor Neighboring gene formation of mitochondrial complex V assembly factor 1 homolog Neighboring gene uncharacterized LOC100129148

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2019-05-22)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2019-05-22)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25778

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in DNA replication-independent nucleosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

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_173569.4NP_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
    Q6ZU65
    Related
    ENSP00000418648.2, ENST00000473989.8
    Conserved Domains (2) summary
    pfam08729
    Location:196245
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:456662
    UBN_AB; Ubinuclein conserved middle domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    139228408..139329421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516003.2XP_011514305.1  ubinuclein-2 isoform X4

    Conserved Domains (2) summary
    pfam08729
    Location:196245
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:456662
    UBN_AB; Ubinuclein conserved middle domain
  2. XM_006715916.4XP_006715979.2  ubinuclein-2 isoform X3

    Conserved Domains (2) summary
    pfam08729
    Location:162211
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:422628
    UBN_AB; Ubinuclein conserved middle domain
  3. XM_011516002.3XP_011514304.1  ubinuclein-2 isoform X2

    Conserved Domains (2) summary
    pfam08729
    Location:196245
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:456662
    UBN_AB; Ubinuclein conserved middle domain
  4. XM_005250249.4XP_005250306.2  ubinuclein-2 isoform X1

    Conserved Domains (2) summary
    pfam08729
    Location:195244
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:455661
    UBN_AB; Ubinuclein conserved middle domain
  5. XM_024446704.1XP_024302472.1  ubinuclein-2 isoform X5

    Conserved Domains (2) summary
    pfam08729
    Location:1768
    HUN; HPC2 and ubinuclein domain
    pfam14075
    Location:271485
    UBN_AB; Ubinuclein conserved middle domain
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