Antigen Record Ag003677

AgACCAg003677
Date19-08-2008
Last updated14-12-2016
Antigen NameOCA2
Common NameP polypeptide
Full NameOculocutaneous albinism II (pink-eye dilution (murine) homolog)
SynonymMelanocyte-specific transporter protein; P protein; Pink-eyed dilution protein homolog; oculocutaneous albinism II (pink-eye dilution homolog, mouse); BOCA, D15S12, EYCL3, P, PED, OCA2

another display format
  • Melanocyte-specific transporter protein
  • P protein
  • Pink-eyed dilution protein homolog
  • oculocutaneous albinism II (pink-eye dilution homolog, mouse)
  • BOCA, D15S12, EYCL3, P, PED, OCA2
UniProt IDQ04671
NCBI Gene ID4948
GeneCard IDGC15M027754
SwissProt VARIANT IDVAR_006126
CommentOculocutaneous albinism type 2 (OCA2) - Defects in OCA2 are the cause of oculocutaneous albinism type 2. OCA2 is an autosomal recessive form of albinism, a disorder of pigmentation in the skin, hair, and eyes. The phenotype of patients with OCA2 is typically somewhat less severe than in those with tyrosinase-deficient OCA1. There are several forms of OCA2, from typical OCA to relatively mild 'autosomal recessive ocular albinism' (AROA). OCA2 is the most prevalent type of albinism throughout the world; Severe
AnnotationThis is a fragment sequence.
IsoformsAg000217,  Ag000218,  Ag000219

Alignment of all Isoforms
Mutation entriesAg003658,  Ag003659,  Ag003660,  Ag003661,  Ag003662,  Ag003663,  Ag003664,  Ag003665,  Ag003666,  Ag003667,  Ag003668,  Ag003669,  Ag003670,  Ag003671,  Ag003672,  Ag003673
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RNA/protein expression profileRNA and protein Expression profile
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAY
Antigen sequenceSLTHVVEWIDFETLALLFGMLILVAIFSETGFFDYCAVKAY