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

    Gene ID: 165324, updated on 5-Mar-2024

    Summary

    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. Predicted to be involved in several processes, including autophagosome assembly; nuclear membrane reassembly; and proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to act upstream of or within cellular response to leukemia inhibitory factor; regulation of gene expression; and regulation of protein metabolic process. Predicted to be located in cis-Golgi network and endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 3.2), esophagus (RPKM 2.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2p23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (23927278..24004909)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (23961872..24039606)
    105.20220307 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 succinate dehydrogenase complex subunit C 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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_181713.4NP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP 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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005264168.6XP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP domain
    2. XM_011532633.4XP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP domain
    3. XM_005264166.6XP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP domain
    4. XM_047443579.1XP_047299535.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    5. XM_017003517.3XP_016859006.1  UBX domain-containing protein 2A isoform X3

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

    7. XM_005264169.5XP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP domain
    8. XM_005264167.6XP_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:167250
      UBX_UBXN2A; Ubiquitin regulatory domain X (UBX) found in UBX domain protein 2A (UBXN2A) and similar proteins
      pfam08059
      Location:65138
      SEP; SEP domain
    9. XM_047443580.1XP_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_054340864.1XP_054196839.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    2. XM_054340866.1XP_054196841.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    3. XM_054340865.1XP_054196840.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    4. XM_054340868.1XP_054196843.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    5. XM_054340872.1XP_054196847.1  UBX domain-containing protein 2A isoform X3

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

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

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    8. XM_054340869.1XP_054196844.1  UBX domain-containing protein 2A isoform X1

      UniProtKB/Swiss-Prot
      A8K577, B7ZKP8, P68543, Q569G8
    9. XM_054340870.1XP_054196845.1  UBX domain-containing protein 2A isoform X1

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