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    UBXN2B UBX domain protein 2B [ Homo sapiens (human) ]

    Gene ID: 137886, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UBXN2Bprovided by HGNC
    Official Full Name
    UBX domain protein 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:27035
    See related
    Ensembl:ENSG00000215114 MIM:610686; AllianceGenome:HGNC:27035
    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
    p37
    Summary
    Predicted to enable ubiquitin binding activity. Involved in establishment of mitotic spindle orientation; negative regulation of protein localization to centrosome; and positive regulation of mitotic centrosome separation. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and spindle pole centrosome. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.6), thyroid (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBXN2B in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (58411361..58451501)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (58832480..58872635)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (59323920..59364060)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986945 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:59108481-59109680 Neighboring gene VISTA enhancer hs1364 Neighboring gene long intergenic non-protein coding RNA 3133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59282662-59283206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59304090-59304590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59304591-59305091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59308925-59309426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59309427-59309926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59350272-59350772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:59350773-59351273 Neighboring gene PTPN11 pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:59404317-59405516 Neighboring gene CYP7A1 5' regulatory region Neighboring gene cytochrome P450 family 7 subfamily A member 1 Neighboring gene peptidylprolyl isomerase A pseudogene 85

    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 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. Phosphorylation of p37 is important for Golgi disassembly at mitosis. Kaneko Y, et al. Biochem Biophys Res Commun, 2010 Nov 5. PMID 20875789
    2. In silico prediction, characterization, docking studies and molecular dynamics simulation of human p97 in complex with p37 cofactor. Mirzadeh A, et al. BMC Mol Cell Biol, 2022 Sep 10. PMID 36088301, Free PMC Article
    3. Structural basis of ubiquitin-independent PP1 complex disassembly by p97. van den Boom J, et al. EMBO J, 2023 Jul 17. PMID 37264685, Free PMC Article
    4. Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. Luca G, et al. J Sleep Res, 2013 Oct. PMID 23496005
    5. Altered cofactor regulation with disease-associated p97/VCP mutations. Zhang X, et al. Proc Natl Acad Sci U S A, 2015 Apr 7. PMID 25775548, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In silico prediction, characterization, docking studies and molecular dynamics simulation of human p97 in complex with p37 cofactor.
      Title: In silico prediction, characterization, docking studies and molecular dynamics simulation of human p97 in complex with p37 cofactor.
    2. human p37/p47 and their C. elegans orthologue UBXN-2 regulate centrosome function in prophase by limiting the recruitment of Aurora A
      Title: The UBXN-2/p37/p47 adaptors of CDC-48/p97 regulate mitosis by limiting the centrosomal recruitment of Aurora A.
    3. these results demonstrate that p37 phosphorylation on Serine-56 and Threonine-59 is important for Golgi disassembly at mitosis.
      Title: Phosphorylation of p37 is important for Golgi disassembly at mitosis.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of mitotic spindle orientation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein localization to centrosome IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in nuclear membrane reassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitotic centrosome separation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UBX domain-containing protein 2B
    Names
    NSFL1 cofactor p37
    p97 cofactor p37

    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_001077619.2 → NP_001071087.1  UBX domain-containing protein 2B isoform 1

      See identical proteins and their annotated locations for NP_001071087.1

      Status: VALIDATED

      Source sequence(s)
      AK126300, BC113645, U79282
      Consensus CDS
      CCDS43741.1
      UniProtKB/Swiss-Prot
      B3KWZ3, Q14CS0
      Related
      ENSP00000382507.2, ENST00000399598.7
      Conserved Domains (2) summary
      cd01770
      Location:253 → 331
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:140 → 232
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47

    2. NM_001330535.2 → NP_001317464.1  UBX domain-containing protein 2B isoform 2

      Status: VALIDATED

      Source sequence(s)
      BE502216, DA185219, DA242203
      Consensus CDS
      CCDS83297.1
      UniProtKB/TrEMBL
      E5RJ36
      Related
      ENSP00000428314.1, ENST00000523409.5
      Conserved Domains (1) summary
      cl02662
      Location:146 → 178
      SEP; SEP domain

    3. NM_001363181.1 → NP_001350110.1  UBX domain-containing protein 2B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK126300, BC113645, U79282
      Conserved Domains (2) summary
      cd01770
      Location:207 → 285
      p47_UBX; p47-like ubiquitin domain
      cl02662
      Location:146 → 182
      SEP; SEP domain

    RNA

    1. NR_156456.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK126300, BC113645, DB337840, U79282

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      58411361..58451501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      58832480..58872635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CS0.1 GenPept UniProtKB/Swiss-Prot:Q14CS0

    Gene LinkOut

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

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