KHDRBS3

Gene Information
 
Gene Symbol
KHDRBS3
 
Aliases
Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile
 
Entrez Gene ID
 
Gene Name
KH RNA binding domain containing, signal transduction associated 3
 
Chromosomal Location
8q24.23
 
HGNC ID
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0048024 Biological process Regulation of mRNA splicing, via spliceosome IBA 21873635
GO:0051259 Biological process Protein complex oligomerization IDA 10332027, 10749975
GO:0005634 Cellular component Nucleus IBA 21873635
GO:0005634 Cellular component Nucleus IMP 10332027
GO:0003723 Molecular function RNA binding HDA 22681889
Protein Information
 
Protein Name
KH domain-containing, RNA-binding, signal transduction-associated protein 3, KH domain containing, RNA binding, signal transduction associated 3, RNA-binding protein T-Star, Sam68-like phosphotyrosine protein, T-STAR, sam68-like mammalian protein 2
 
Function
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00013 KH_1
PF16274 Qua1
PF16568 Sam68-YY
Pathways
 
Reactome
 

 

PTK6 Regulates Proteins Involved in RNA Processing

     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Breast Cancer
Medulloblastoma
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
LHCGR, THADA, FSHR, YAP1, RAB5BandTOX3 
hyperandrogenemia, menstruation number/year and polycystic ovary morphology 
rs10505648 
 
Direct 
862 women with PCOS and 860 controls in the Korean population 
The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI 

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