Antigen Record Ag003678

AgACCAg003678
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_006127
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
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 sequenceDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRGRVWA
Antigen sequenceDFETLALLFGMMILVAIFSEMGFFDYCAVKAYRLSRGRVWA