UBQLN2
Ubiquilin-2
Also known as: Chap1, CHAP1/DSK2, Dsk2, LIC-2, N4BP4, PLIC-2, PLIC2, RIHFB2157, UBQL2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UHD9
- Gene
- UBQLN2
- Ensembl
- ENSG00000188021
- Chromosome
- X
- Canonical length
- 624 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
624 residues, UniProt reviewed canonical sequence.
>Q9UHD9|UBQLN2
1 MAENGESSGP PRPSRGPAAA QGSAAAPAEP KIIKVTVKTP KEKEEFAVPE NSSVQQFKEA
61 ISKRFKSQTD QLVLIFAGKI LKDQDTLIQH GIHDGLTVHL VIKSQNRPQG QSTQPSNAAG
121 TNTTSASTPR SNSTPISTNS NPFGLGSLGG LAGLSSLGLS STNFSELQSQ MQQQLMASPE
181 MMIQIMENPF VQSMLSNPDL MRQLIMANPQ MQQLIQRNPE ISHLLNNPDI MRQTLEIARN
241 PAMMQEMMRN QDLALSNLES IPGGYNALRR MYTDIQEPML NAAQEQFGGN PFASVGSSSS
301 SGEGTQPSRT ENRDPLPNPW APPPATQSSA TTSTTTSTGS GSGNSSSNAT GNTVAAANYV
361 ASIFSTPGMQ SLLQQITENP QLIQNMLSAP YMRSMMQSLS QNPDLAAQMM LNSPLFTANP
421 QLQEQMRPQL PAFLQQMQNP DTLSAMSNPR AMQALMQIQQ GLQTLATEAP GLIPSFTPGV
481 GVGVLGTAIG PVGPVTPIGP IGPIVPFTPI GPIGPIGPTG PAAPPGSTGS GGPTGPTVSS
541 AAPSETTSPT SESGPNQQFI QQMVQALAGA NAPQLPNPEV RFQQQLEQLN AMGFLNREAN
601 LQALIATGGD INAAIERLLG SQPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBQLN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 33 nTPM
- basal ganglia: 33 nTPM
- cerebral cortex: 31 nTPM
- hypothalamus: 26 nTPM
- skeletal muscle: 26 nTPM
- amygdala: 24 nTPM
Single-cell type
- neutrophils: 68 nCPM
- pancreatic islet cells: 58 nCPM
- syncytiotrophoblasts: 51 nCPM
- smooth muscle cells: 50 nCPM
- esophageal apical cells: 46 nCPM
- esophageal suprabasal cells: 44 nCPM
Immune cell
- basophil: 50 nTPM
- non-classical monocyte: 34 nTPM
- intermediate monocyte: 31 nTPM
- naive CD4 T-cell: 30 nTPM
- eosinophil: 24 nTPM
- classical monocyte: 24 nTPM
Brain region
- cerebral cortex: 67 nTPM
- basal ganglia: 63 nTPM
- hypothalamus: 61 nTPM
- white matter: 59 nTPM
- hippocampal formation: 58 nTPM
- pons: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBQLN2.
Disease | AllUniProt
Conditions UBQLN2 is implicated in, by any mechanism.
- Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) MIM:300857
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 252 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amyotrophic lateral sclerosis type 15
- UBQLN2-related disorder
Disease | ImmuneIEDB
Conditions an epitope on UBQLN2 was assayed in.
- lung adenocarcinoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.85
- gnomAD missense Z
- 1.5
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome assembly
- ERAD pathway
- negative regulation of clathrin-dependent endocytosis
- negative regulation of G protein-coupled receptor internalization
- positive regulation of ERAD pathway
- regulation of autophagosome assembly
- regulation of macroautophagy
- ubiquitin-dependent protein catabolic process
Molecular functions
- identical protein binding
- molecular condensate scaffold activity
- polyubiquitin modification-dependent protein binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBQLN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UBQLN2 as an antibody target. Whether an autoantibody or antibody against UBQLN2 could matter depends on whether native UBQLN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBQLN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UBQLN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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