HAPSTR2 (HUWE1 associated protein modifying stress responses 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 389895
Gene name HUWE1 associated protein modifying stress responses 2
Gene symbol HAPSTR2
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq27.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 36631436
GO:0005634 Component Nucleus IDA 36631436
GO:0005634 Component Nucleus IEA
GO:0031625 Function Ubiquitin protein ligase binding IPI 36631436
GO:0050821 Process Protein stabilization IMP 36631436
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
301145 55138 ENSG00000230707
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A7P0TBJ1
Protein name HUWE1-associated protein modifying stress responses 2
Protein function Together with HAPSTR1 plays a central regulatory role in the cellular response to molecular stressors, such as DNA damage, nutrient scarcity, and protein misfolding (PubMed:36631436). Regulates these multiple stress response signaling pathways b
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in a tissue-restricted manner compared to HAPSTR1. {ECO:0000269|PubMed:36631436}.
Sequence 

        

      		
    

    

      Sequence length
      
    

    
    

      Interactions
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Associated diseases
          Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
        

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          Evidence Score:
          ★☆☆☆☆  Gene-disease association found in Text Mining only
          ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
          ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
          ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
          ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
        

      		
    


    
        

      
        

          

            
              

                Unknown / Other Associations
                
                  ClinVar entries with uncertain/conflicting evidence, and associations from other databases
                  (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
                
              

                          		
          

          

            Phenotype Name
            Clinical Significance
            Source
            Reference
            Evidence Score
          

                    

            BIPOLAR DISORDER
            —
            
                                  GWAS catalog
                              
            20889312
            
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

          

                    

            MENTAL OR BEHAVIOURAL DISORDER
            —
            
                                  GWAS catalog
                              
            20889312
            
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

          

                    

            SCHIZOPHRENIA
            —
            
                                  GWAS catalog
                              
            20889312
            
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

          

                  

      		
    

    
    
    
  

  
  
      

    
    

      
                
No strongly related genes found yet for HAPSTR2.

              		
    

  

  
  
      

    
    

      
                
No additional diseases found yet through genes similar to HAPSTR2.