UBQLN2 Gene
protein-coding GIFtS: 59
GCID: GC0XP056606
|
|
ubiquilin 2
| |
Aliases
for UBQLN2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ubiquilin 21 2 | | Dsk21 | | PLIC21 2 3 5 | | LIC-21 | | N4BP41 2 3 | | RIHFB21571 | | Chap11 3 | | ALS152 | | PLIC-21 3 | | DSK22 | | Protein Linking IAP With Cytoskeleton 22 3 | | Nedd4 Binding Protein 42 | | Ubiquitin-Like Product Chap1/Dsk22 3 | | Ubiquilin-21 | | CHAP12 5 | | DSK2 Homolog3 | | CHAP1/DSK21 | | HPLIC-21 |
Export aliases for UBQLN2 gene to outside databasesPrevious GC identifers: GC0XP053424 GC0XP054556 GC0XP055195 GC0XP055556 GC0XP056473 GC0XP053642 |
Summaries
for UBQLN2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UBQLN2:
This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products inyeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associateddomain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionallylink the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has alsobeen shown to bind the ATPase domain of the Hsp70-like Stch protein. (provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9Function: Increases the half-life of proteins destined to be degraded by the proteasome; may modulateproteasome-mediated protein degradation
Gene Wiki entry for UBQLN2
|
Genomic Views
for UBQLN2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011630.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the UBQLN2 gene promoter:
HOXA9B HOXA9 MyoD POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 Meis-1b AREB6 POU2F1 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for UBQLN2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBQLN2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.21 Ensembl cytogenetic band: Xp11.21 HGNC cytogenetic band: Xp11.21UBQLN2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP056606: view genomic region
(about GC identifiers)
Start:
|
56,590,026 bp from pter |
End:
|
56,593,443 bp from pter |
Size:
|
3,418 bases |
Orientation:
|
plus strand |
|
Proteins
for UBQLN2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9 (See
protein sequence)Recommended Name: Ubiquilin-2 Size: 624 amino acids; 65696 Da
Subunit: Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit
Subcellular location: Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers inmitotic cells
1 PDB 3D structure from  and Proteopedia  for UBQLN2:1J8C (3D)
Secondary accessions: O94798 Q5D027 Q9H3W6 Q9HAZ4Explore the universe of human proteins at neXtProt for UBQLN2: NX_Q9UHD9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UHD9
UBQLN2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_038472.2
ENSEMBL proteins: ENSP00000345195
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
UBQLN2 for ontologies About GeneDecksing
UBQLN2 Antibody Products:
Assay Products for UBQLN2: |
Protein
Domains /
Families
for UBQLN2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UBQLN2 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9UHD9ProtoNet protein and cluster: Q9UHD9 2 Blocks protein families: IPB000449 Ubiquitin-associated domain IPB000626 Ubiquitin domain
UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9Similarity: Contains 1 UBA domainSimilarity: Contains 1 ubiquitin-like domain |
Function
for UBQLN2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9Function: Increases the half-life of proteins destined to be degraded by the proteasome; may modulateproteasome-mediated protein degradationInduction: Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
UBQLN2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for UBQLN2:
|
Pathways & Interactions
for UBQLN2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Protein processing in endoplasmic reticulum | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for UBQLN2):
UBQLN2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBQLN2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/97 Interacting proteins for UBQLN2 (Q9UHD91, 2, 3 ENSP000003451954) via UniProtKB, MINT, STRING, and/or I2D (see all 97)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008219 | cell death |
IEA | -- |
UBQLN2 for ontologies About GeneDecksing
|
Drugs & Compounds
for UBQLN2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for UBQLN2
Search CenterWatch for drugs/clinical trials and news about UBQLN2 / UBQL2
|
Transcripts
for UBQLN2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for UBQLN2 gene: NM_013444.3 Unigene Cluster for UBQLN2: Ubiquilin 2 Hs.179309 [show with all ESTs]Unigene Representative Sequence: NM_0134441 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000338222(uc004dus.3)
Clone
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OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AB015344.1 AF189009.1 AF293385.1 AK001029.1 AK297252.1 AK302885.1 AL442081.1 BC069237.1 3 DOTS entries: DT.446802 DT.75178455 DT.100743118 24/62 AceView cDNA sequences (see all 62): BG779081 BQ638428 AI140828 BM698115 AF293385 AI738604 BM928110 CA390135 NM_013444 BQ921071 AL442081 AA235610 BM452656 BI836610 R49916 Z43703 AI677838 AI970587 AF189009 BE383133 BI833091 AI144481 BI223443 CA313169
GeneLoc Exon Structure
|
Expression
for UBQLN2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| UBQLN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATGTTTGC
About this image
See UBQLN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UBQLN2
SOURCE GeneReport for Unigene cluster: Hs.179309
SABiosciences Expression via Pathway-Focused PCR Array including UBQLN2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBQLN2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN2 |
Orthologs
for UBQLN2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for UBQLN2 gene from 4/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG142243 |
-- |
48(a) |
|
18E1 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
F15C11.26 |
F15C11.2 |
37(a) |
1 → many |
I(7021981-7029075) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G171906DSK26 |
ubiquitin-like protein |
33(a)31(a) |
many ↔ manymany ↔ many |
2(7477845-7481606) 2(7481881-7485240) |
rice
(Oryza sativa) |
Liliopsida |
---- |
ubiquitin family protein, putative, expressed |
30(a)25(a) |
many ↔ manymany ↔ many |
3(1790568-1795419) 10(21097813-21103066) |
ENSEMBL Gene Tree for UBQLN2 (if available)
TreeFam Gene Tree for UBQLN2 (if available) |
Paralogs
for UBQLN2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for UBQLN2 gene
- UBQLN32 UBQLN42 UBQLN12 UBQLNL2
3 SIMAP similar genes for UBQLN2 using alignment to 1 protein entry: UBQL2_HUMAN:UBQLN1 UBQLN4 UBQLN3
UBQLN2 for paralogs About GeneDecksing
|
Genomic Variants
for UBQLN2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for UBQLN2 (56590026 - 56593443 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UBQLN2: --
Human Gene Mutation Database (HGMD): UBQLN2
Locus Specific Mutation Databases (LSDB): UBQLN2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UBQLN2 |
|
Disorders
/ Diseases
for UBQLN2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UBQLN2 for disorders About GeneDecksing
OMIM gene information: 300264
OMIM disorders: --
UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9
Defects in UBQLN2 are the cause of amyotrophic lateral sclerosis type 15 with or without frontotemporaldementia (ALS15) [MIM:300857]. A neurodegenerative disorder affecting upper motor neurons in the brain and lower motorneurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Thepathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presenceof ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiologyof amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. Thedisease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia
7  diseases for UBQLN2: About MalaCardsamyotrophic lateral sclerosis frontotemporal dementia lateral sclerosis macular degeneration
dementia ataxia malaria
3 diseases from the University of Copenhagen DISEASES database for UBQLN2:Amyotrophic lateral sclerosis Frontotemporal dementia Brown-Vialetto-Van Laere syndrome Export disorders for UBQLN2 gene to outside databases
|
Publications
for UBQLN2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for UBQLN2 gene, integrated from 9 sources (see all 52):
(articles sorted by number of sources associating them with UBQLN2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A family of ubiquitin-like proteins binds the ATPase domain of Hsp70- like Stch. (PubMed id 10675567)1, 2, 3 Kaye F.J.... Rose M.D. (2000)
- Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. (PubMed id 11827521)1, 2, 9 Walters K.J.... Howley P.M. (2002)
- The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PubMed id 10983987)1, 2, 9 Kleijnen M.F.... Howley P.M. (2000)
- UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. (PubMed id 22717235)1, 2 Williams K.L.... Blair I.P. (2012)
- UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. (PubMed id 22560112)1, 2 Daoud H.... Rouleau G.A. (2012)
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. (PubMed id 21857683)1, 2 Deng H.X....Siddique T. (2011)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (1998)
- The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PubMed id 18199683)1, 9 N'Diaye E.N....Brown E.J. (2008)
- Identification of ubiquitin-like protein-binding subunits of the 26S proteasome. (PubMed id 12200120)1, 9 Saeki Y....Yokosawa H. (2002)
|
External Searches for UBQLN2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing UBQLN2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing UBQLN2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UBQLN2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for UBQLN2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for UBQLN2 gene:
Search GeneIP for patents involving UBQLN2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for UBQLN2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN2 |
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