KEGG   Homo sapiens (human): 4948
Entry
4948              CDS       T01001                                 
Symbol
OCA2, BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, SLC13B1
Name
(RefSeq) OCA2 melanosomal transmembrane protein
  KO
K24200  P protein
Organism
hsa  Homo sapiens (human)
Disease
H00168  Oculocutaneous albinism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    4948 (OCA2)
Transporters [BR:hsa02000]
 Other transporters
  Electrochemical potential-driven transporters [TC:2]
   4948 (OCA2)
SSDB
Motif
Pfam: CitMHS Na_sulph_symp ArsB MatC_N
Other DBs
NCBI-GeneID: 4948
NCBI-ProteinID: NP_000266
OMIM: 611409
HGNC: 8101
Ensembl: ENSG00000104044
UniProt: Q04671
Position
15:complement(27719008..28099315)
AA seq 838 aa
MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS
WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF
ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV
MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG
PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV
SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS
LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG
RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA
ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE
PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW
LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR
LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG
NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN
NT seq 2517 nt   +upstreamnt  +downstreamnt
atgcatctggagggcagagacggcaggcggtaccccggcgcgccggcggtggagctcctg
cagacgtccgtgcccagcggactcgctgaacttgtggccggcaagcgcaggcttcctcgg
ggagccggtggagctgacccctcgcactcctgccccaggggggctgccgggcagagctct
tgggctcctgcaggccaggagtttgcttcattcctcacaaaagggaggtctcactcttct
ttgccccagatgtccagctccaggtctaaagattcctgctttacagaaaacactcctttg
ctgaggaattccttacaggagaaagggtcacggtgcatacctgtttaccatccagagttc
atcactgctgaagagtcttgggaagacagctctgctgactgggagcgaagatacctgcta
agcagggaggtgtctggtctgtctgcatctgcctcctccgagaagggagaccttctggac
agcccgcacatccgactccgtctttccaagctgaggcgctgtgtgcagtggctgaaagtc
atgggcctgtttgcctttgtggtgctgtgttctattttgttcagcctatatccggatcaa
ggaaagctctggcagctgttggccttatcaccgctggagaactactccgtgaaccttagc
agccacgtggactccacgctgctgcaggtggacctggcaggggccctagtggccagtggg
ccgagtcgtcctgggagggaagagcacatcgtggtggagctgacccaggctgacgctttg
ggctccaggtggcggcggccacagcaggtcactcacaactggacggtgtatttaaatccg
aggagaagcgagcactcagtgatgagcaggacctttgaggtactgaccagagagacggtg
tccatcagcatccgggcctccctgcagcagacccaggctgtccctcttttgatggctcat
cagtacctccgcggaagtgtagaaacccaggtgaccatcgcgacggccatcctcgcgggc
gtctacgcgctgatcatatttgagatcgtgcacagaactctggcggccatgctgggttcc
cttgcagcactggcagcactggctgtgattggcgatagacccagcctgacccatgtggtg
gagtggattgattttgagacgctggccctgctgtttggcatgatgatcttagtagccata
ttttcagaaacgggatttttcgattattgtgctgtaaaggcataccggctctcccgggga
cgggtgtgggccatgatcatcatgctctgtctcatcgcggccgtcctctctgccttcttg
gacaacgtcaccaccatgctcctcttcacgcctgtgaccataaggttgtgtgaggtgctc
aaccttgatccaagacaagtcctgattgcagaagtgatcttcacaaacattggaggagct
gccactgccatcggggaccctccaaatgtcattattgtttccaaccaagagctgaggaag
atgggcctggactttgccggattcactgcacacatgttcattgggatttgccttgttctc
ctggtctgctttccgctcctcagactcctttactggaacagaaagctttataacaaggaa
cccagtgagattgttgaactgaagcacgagattcacgtctggcgcctgactgctcagcgc
atcagcccggccagccgcgaggagacagctgtgcgccgcctgctgctggggaaggtgctg
gcactggagcacctgctcgcccggaggctgcacaccttccacagacagatctcacaggag
gacaaaaattgggagaccaatatccaagaactccaaaaaaagcataggatatctgacggg
attctgctcgccaaatgcctgacagtgttgggatttgttatcttcatgtttttcctcaat
tcgtttgtccctggcattcatcttgatcttggatggattgctattctgggtgccatctgg
ttgctaattttagctgatattcatgattttgagataattctacacagagtggaatgggca
acccttctgttttttgcagcgctctttgttctgatggaggcattggcacatctccactta
atagaatatgttggagaacaaactgctttgctaataaagatggtcccagaggagcagcgc
ctcatagccgccattgtcctggtggtgtgggtctcagccctggcgtcgtccctgattgac
aacatcccgttcactgctaccatgattcccgtgctcctgaacctgagccacgaccctgag
gttggcctgcccgcaccgccgctcatgtatgccctggccttcggtgcttgcctgggaggt
aacgggacactgattggcgcgtcggcaaacgtcgtgtgtgcagggattgcagaacagcat
ggatatgggttctccttcatggaatttttcaggctgggcttcccaatgatggttgtgtcc
tgcactgttgggatgtgttatctccttgtggctcatgtggtggtgggatggaattaa

  All links  
Disease (3)   
   OMIM (3)   
Gene (20)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (61)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (59)   
DNA sequence (69)   
   RefSeq(nuc) (61)   
   GenBank (4)   
   EMBL (4)   
Protein domain (4)   
   Pfam (4)   
All databases (157)   

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