ENSG00000188021


Homo sapiens

Features
Gene ID: ENSG00000188021
  
Biological name :UBQLN2
  
Synonyms : Q9UHD9 / ubiquilin 2 / UBQLN2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p11.21
Gene start: 56563639
Gene end: 56567868
  
Corresponding Affymetrix probe sets: 215884_s_at (Human Genome U133 Plus 2.0 Array)   239888_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000345195
NCBI entrez gene - 29978     See in Manteia.
OMIM - 300264
RefSeq - NM_013444
RefSeq Peptide - NP_038472
swissprot - Q9UHD9
Ensembl - ENSG00000188021
  
Related genetic diseases (OMIM): 300857 - Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000012585Gallus gallus
 Q9QZM0ENSMUSG00000050148Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9UMX0 / UBQLN1 / ubiquilin 1ENSG0000013501876
Q9NRR5 / UBQLN4 / ubiquilin 4ENSG0000016080357
Q9H347 / UBQLN3 / ubiquilin 3ENSG0000017552042
Q8IYU4 / UBQLNL / ubiquilin likeENSG0000017551825


Protein motifs (from Interpro)
Interpro ID Name
 IPR000626  Ubiquitin domain
 IPR006636  Heat shock chaperonin-binding
 IPR009060  UBA-like superfamily
 IPR015496  Ubiquilin
 IPR015940  Ubiquitin-associated domain
 IPR016024  Armadillo-type fold
 IPR028430  Ubiquilin-2
 IPR029071  Ubiquitin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0016241 regulation of macroautophagy IMP
 biological_processGO:0030433 ubiquitin-dependent ERAD pathway IMP
 biological_processGO:1900186 negative regulation of clathrin-dependent endocytosis IMP
 biological_processGO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process IMP
 biological_processGO:1904021 negative regulation of G-protein coupled receptor internalization IMP
 biological_processGO:2000785 regulation of autophagosome assembly IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002145 Frontotemporal dementia 
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 HP:0002180 Neurodegeneration 
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 HP:0002305 Athetosis "Athetosis (from the Greek word for changeable or unfixed ) refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators]
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003676 Progressive disorder 
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000063245 EPN1 / Q9Y6I3 / epsin 1  / reaction / complex
 ENSG00000085832 EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15  / complex / reaction
 ENSG00000072134 EPN2 / O95208 / epsin 2  / complex / reaction






 

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