Antigen Record Ag003478

AgACCAg003478
Date19-08-2008
Last updated14-12-2016
Antigen NameACTN4
Common NameAlpha-actinin-4
Full NameNon-muscle alpha-actinin 4
SynonymF-actin cross-linking protein; actinin, alpha4; ACTN4; DKFZp686k23158; FSGS; FSGS1

another display format
  • F-actin cross-linking protein
  • actinin, alpha4
  • ACTN4
  • DKFZp686k23158
  • FSGS
  • FSGS1
UniProt IDO43707
NCBI Gene ID81
GeneCard IDGC19P038647
SwissProt VARIANT IDVAR_010378
CommentFocal segmental glomerulosclerosis 1 (FSGS1) - Defects in ACTN4 are the cause of focal segmental glomerulosclerosis 1. FSGS1 is a common renal lesion characterized by increased urinary protein excretion (proteinuria) and decreasing kidney function (nephrotic syndrome). Renal insufficiency often progresses to end-stage renal disease (ESRD) (also known as end-stage renal failure), a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS1 is defined by the presence of segmental sclerosis in glomeruli, and is seen in all ethnic groups, although it is particularly common in individuals of African descent. FSGS1 occurs as an isolated primary condition or secondary to disorders as HIV infection, obesity, hypertension and diabetes. FSGS1 may also be inherited as a Mendelian trait
AnnotationThis is a fragment sequence.
Mutation entriesAg000057,  Ag003478,  Ag003479,  Ag003480

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RNA/protein expression profileRNA and protein Expression profile
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAE
Antigen sequenceLDIPKMLDAEDIVNTARPDEEAIMTYVSSFYHAFSGAQKAE