Human Gene UBQLN2 (ENST00000338222.7_4) from GENCODE V47lift37
  Description: ubiquilin 2 (from RefSeq NM_013444.4)
Gencode Transcript: ENST00000338222.7_4
Gencode Gene: ENSG00000188021.9_6
Transcript (Including UTRs)
   Position: hg19 chrX:56,590,060-56,594,301 Size: 4,242 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrX:56,590,307-56,592,181 Size: 1,875 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:56,590,060-56,594,301)mRNA (may differ from genome)Protein (624 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UBQL2_HUMAN
DESCRIPTION: RecName: Full=Ubiquilin-2; AltName: Full=Chap1; AltName: Full=DSK2 homolog; AltName: Full=Protein linking IAP with cytoskeleton 2; Short=PLIC-2; Short=hPLIC-2; AltName: Full=Ubiquitin-like product Chap1/Dsk2;
FUNCTION: Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation.
SUBUNIT: Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit.
INTERACTION: P54725:RAD23A; NbExp=3; IntAct=EBI-947187, EBI-746453;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers in mitotic cells.
INDUCTION: Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low.
DISEASE: Defects in UBQLN2 are the cause of amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia (ALS15) [MIM:300857]. A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia.
SIMILARITY: Contains 1 UBA domain.
SIMILARITY: Contains 1 ubiquitin-like domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UBQLN2
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 15, with or without frontotemporal dementia* (1232), ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia* (500), amyotrophic lateral sclerosis 1* (89), amyotrophic lateral sclerosis type 14 (17), lateral sclerosis (12), dementia (10), brown-vialetto-van laere syndrome (6), frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (6), basal ganglia disease (4), dementia, frontotemporal (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.64 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 819.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.10247-0.413 Picture PostScript Text
3' UTR -442.752120-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR006636 - STI1_HS-bd
IPR009060 - UBA-like
IPR000449 - UBA/transl_elong_EF1B_N
IPR015940 - UBA/transl_elong_EF1B_N_euk
IPR015496 - Ubiquilin
IPR000626 - Ubiquitin
IPR019955 - Ubiquitin_supergroup

Pfam Domains:
PF00240 - Ubiquitin family
PF00627 - UBA/TS-N domain
PF11976 - Ubiquitin-2 like Rad60 SUMO-like
PF13881 - Ubiquitin-2 like Rad60 SUMO-like

SCOP Domains:
48371 - ARM repeat
46934 - UBA-like
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1J8C - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UHD9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
     Gene Details
     Gene Sorter
     SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006914 autophagy
GO:0016241 regulation of macroautophagy
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:1900186 negative regulation of clathrin-dependent endocytosis
GO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process
GO:1904021 negative regulation of G-protein coupled receptor internalization
GO:2000785 regulation of autophagosome assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  KJ898761 - Synthetic construct Homo sapiens clone ccsbBroadEn_08155 UBQLN2 gene, encodes complete protein.
LF211706 - JP 2014500723-A/19209: Polycomb-Associated Non-Coding RNAs.
BC069237 - Homo sapiens ubiquilin 2, mRNA (cDNA clone MGC:78469 IMAGE:4543266), complete cds.
AK302885 - Homo sapiens cDNA FLJ56541 complete cds, highly similar to Ubiquilin-2.
AK297252 - Homo sapiens cDNA FLJ60127 complete cds, highly similar to Ubiquilin-2.
AF189009 - Homo sapiens ubiquitin-like product Chap1/Dsk2 mRNA, complete cds.
JD456835 - Sequence 437859 from Patent EP1572962.
JD329531 - Sequence 310555 from Patent EP1572962.
JD388679 - Sequence 369703 from Patent EP1572962.
JD214392 - Sequence 195416 from Patent EP1572962.
AB590909 - Synthetic construct DNA, clone: pFN21AE2033, Homo sapiens UBQLN2 gene for ubiquilin 2, without stop codon, in Flexi system.
AF293385 - Homo sapiens PLIC-2 mRNA, complete cds.
AL442081 - Homo sapiens mRNA; cDNA DKFZp761I1223 (from clone DKFZp761I1223).
LF382907 - JP 2014500723-A/190410: Polycomb-Associated Non-Coding RNAs.
LF382909 - JP 2014500723-A/190412: Polycomb-Associated Non-Coding RNAs.
AB015344 - Homo sapiens HRIHFB2157 mRNA, partial cds.
LF382910 - JP 2014500723-A/190413: Polycomb-Associated Non-Coding RNAs.
AK001029 - Homo sapiens cDNA FLJ10167 fis, clone HEMBA1003617, highly similar to Homo sapiens HRIHFB2157 mRNA.
LF382911 - JP 2014500723-A/190414: Polycomb-Associated Non-Coding RNAs.
LF382912 - JP 2014500723-A/190415: Polycomb-Associated Non-Coding RNAs.
JD398359 - Sequence 379383 from Patent EP1572962.
LF382913 - JP 2014500723-A/190416: Polycomb-Associated Non-Coding RNAs.
JD133510 - Sequence 114534 from Patent EP1572962.
JD366892 - Sequence 347916 from Patent EP1572962.
JD127136 - Sequence 108160 from Patent EP1572962.
JD299022 - Sequence 280046 from Patent EP1572962.
JD402531 - Sequence 383555 from Patent EP1572962.
JD555996 - Sequence 537020 from Patent EP1572962.
JD171773 - Sequence 152797 from Patent EP1572962.
LF382914 - JP 2014500723-A/190417: Polycomb-Associated Non-Coding RNAs.
JD060977 - Sequence 42001 from Patent EP1572962.
JD410630 - Sequence 391654 from Patent EP1572962.
MA618484 - JP 2018138019-A/190410: Polycomb-Associated Non-Coding RNAs.
MA618486 - JP 2018138019-A/190412: Polycomb-Associated Non-Coding RNAs.
MA618487 - JP 2018138019-A/190413: Polycomb-Associated Non-Coding RNAs.
MA618488 - JP 2018138019-A/190414: Polycomb-Associated Non-Coding RNAs.
MA618489 - JP 2018138019-A/190415: Polycomb-Associated Non-Coding RNAs.
MA618490 - JP 2018138019-A/190416: Polycomb-Associated Non-Coding RNAs.
MA618491 - JP 2018138019-A/190417: Polycomb-Associated Non-Coding RNAs.
MA447283 - JP 2018138019-A/19209: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UHD9 (Reactome details) participates in the following event(s):

R-HSA-8866275 UBQLNs bind UIM-containing adaptor proteins
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000338222.1, ENST00000338222.2, ENST00000338222.3, ENST00000338222.4, ENST00000338222.5, ENST00000338222.6, HRIHFB2157, N4BP4, NM_013444, O94798, PLIC2, Q5D027, Q9H3W6, Q9HAZ4, Q9UHD9, UBQL2_HUMAN, uc317uyq.1, uc317uyq.2
UCSC ID: ENST00000338222.7_4
RefSeq Accession: NM_013444.4
Protein: Q9UHD9 (aka UBQL2_HUMAN or UBQ2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene UBQLN2:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.