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

Gene ID: 165324, updated on 5-Mar-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. 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
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Genomic context

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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

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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. UBXN2A, a Ubiquitin-Like Protein, Alters Proteins in mTORC2 Pathway. Reihe C. S D Med, 2022 Oct. PMID 36889268
  2. 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
  3. 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
  4. 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
  5. 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

See all (34) 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_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_005264168.6 → 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

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