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    UBXN2A UBX domain protein 2A [ Homo sapiens (human) ]

    Gene ID: 165324, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UBXN2Aprovided by HGNC
    Official Full Name
    UBX domain protein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:27265
    See related
    Ensembl:ENSG00000173960 AllianceGenome:HGNC:27265
    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
    UBXD4
    Summary
    Predicted to enable ubiquitin binding activity. Involved in negative regulation of ERAD pathway and positive regulation of protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 3.2), esophagus (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBXN2A in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (23927278..24004909)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (23961872..24039606)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24163333..24227779)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15417 Neighboring gene phosphoglycerate mutase 1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15418 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24149008-24149926 Neighboring gene ribosomal protein S13 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24149927-24150843 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24163143-24163338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15421 Neighboring gene SDHC pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24238941-24239496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24239497-24240052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:24244092-24244708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24246333-24247318 Neighboring gene MFSD2 lysolipid transporter B, sphingolipid Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene FKBP prolyl isomerase 1B Neighboring gene WD repeat and coiled coil containing

    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. UBXN2A, a Ubiquitin-Like Protein, Alters Proteins in mTORC2 Pathway. Reihe C. S D Med, 2022 Oct. PMID 36889268
    2. A plant alkaloid, veratridine, potentiates cancer chemosensitivity by UBXN2A-dependent inhibition of an oncoprotein, mortalin-2. Abdullah A, et al. Oncotarget, 2015 Sep 15. PMID 26188124, Free PMC Article
    3. UBXN2A suppresses the Rictor-mTORC2 signaling pathway, an established tumorigenic pathway in human colorectal cancer. Sane S, et al. Oncogene, 2023 May. PMID 37037900, Free PMC Article
    4. Ubiquitin-like (UBX)-domain-containing protein, UBXN2A, promotes cell death by interfering with the p53-Mortalin interactions in colon cancer cells. Sane S, et al. Cell Death Dis, 2014 Mar 13. PMID 24625977, Free PMC Article
    5. Structural studies of UBXN2A and mortalin interaction and the putative role of silenced UBXN2A in preventing response to chemotherapy. Sane S, et al. Cell Stress Chaperones, 2016 Mar. PMID 26634371, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBXN2A suppresses the Rictor-mTORC2 signaling pathway, an established tumorigenic pathway in human colorectal cancer.
      Title: UBXN2A suppresses the Rictor-mTORC2 signaling pathway, an established tumorigenic pathway in human colorectal cancer.
    2. UBXN2A, a Ubiquitin-Like Protein, Alters Proteins in mTORC2 Pathway.
      Title: UBXN2A, a Ubiquitin-Like Protein, Alters Proteins in mTORC2 Pathway.
    3. The existence of a multiprotein complex containing UBXN2A, CHIP, and mot-2 suggests a synergistic tumor suppressor activity of UBXN2A and CHIP in mot-2-enriched tumors.
      Title: UBXN2A enhances CHIP-mediated proteasomal degradation of oncoprotein mortalin-2 in cancer cells.
    4. UBXN2A binds to mortalin's binding pocket within the substrate-binding domain of mortalin. UBXN2A increases stability of p53 protein targeted by the mortalin-CHIP E3 ubiquitin ligase.
      Title: Structural studies of UBXN2A and mortalin interaction and the putative role of silenced UBXN2A in preventing response to chemotherapy.
    5. veratridine enhances transactivation of UBXN2A, resulting in upregulation of UBXN2A in the cytoplasm, where UBXN2A binds and inhibits the oncoprotein mortalin-2
      Title: A plant alkaloid, veratridine, potentiates cancer chemosensitivity by UBXN2A-dependent inhibition of an oncoprotein, mortalin-2.
    6. Suggest UBXN2A can reconstitute inactive p53-dependent apoptotic pathways in colonic neoplasms.
      Title: Ubiquitin-like (UBX)-domain-containing protein, UBXN2A, promotes cell death by interfering with the p53-Mortalin interactions in colon cancer cells.
    7. Ubx2 and Ubxd8 regulates lipid droplet homeostasis.
      Title: The ubiquitin-like (UBX)-domain-containing protein Ubx2/Ubxd8 regulates lipid droplet homeostasis.
    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
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Clone Names

    • MGC138202

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholine receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear membrane reassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cis-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UBX domain-containing protein 2A
    Names
    UBX domain containing 4
    UBX domain-containing protein 4

    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_181713.4 → NP_859064.2  UBX domain-containing protein 2A

      See identical proteins and their annotated locations for NP_859064.2

      Status: VALIDATED

      Source sequence(s)
      AC066692, AL832079, BC016364
      Consensus CDS
      CCDS1704.1
      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Related
      ENSP00000312107.4, ENST00000309033.5
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      23927278..24004909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264168.6 → XP_005264225.1  UBX domain-containing protein 2A isoform X1

      See identical proteins and their annotated locations for XP_005264225.1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP domain

    2. XM_011532633.4 → XP_011530935.1  UBX domain-containing protein 2A isoform X1

      See identical proteins and their annotated locations for XP_011530935.1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Related
      ENSP00000385525.1, ENST00000404924.5
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP domain

    3. XM_005264166.6 → XP_005264223.1  UBX domain-containing protein 2A isoform X1

      See identical proteins and their annotated locations for XP_005264223.1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP domain

    4. XM_047443579.1 → XP_047299535.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    5. XM_017003517.3 → XP_016859006.1  UBX domain-containing protein 2A isoform X3

    6. XM_047443581.1 → XP_047299537.1  UBX domain-containing protein 2A isoform X2

    7. XM_005264169.5 → XP_005264226.1  UBX domain-containing protein 2A isoform X1

      See identical proteins and their annotated locations for XP_005264226.1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP domain

    8. XM_005264167.6 → XP_005264224.1  UBX domain-containing protein 2A isoform X1

      See identical proteins and their annotated locations for XP_005264224.1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
      Conserved Domains (2) summary
      cd17160
      Location:167 → 250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65 → 138
      SEP; SEP domain

    9. XM_047443580.1 → XP_047299536.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      23961872..24039606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340864.1 → XP_054196839.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    2. XM_054340866.1 → XP_054196841.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    3. XM_054340865.1 → XP_054196840.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    4. XM_054340868.1 → XP_054196843.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    5. XM_054340872.1 → XP_054196847.1  UBX domain-containing protein 2A isoform X3

    6. XM_054340871.1 → XP_054196846.1  UBX domain-containing protein 2A isoform X2

    7. XM_054340867.1 → XP_054196842.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    8. XM_054340869.1 → XP_054196844.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8

    9. XM_054340870.1 → XP_054196845.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P68543.1 GenPept UniProtKB/Swiss-Prot:P68543

    Gene LinkOut

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

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