| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4948 |
Name | OCA2 |
Synonym | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1;oculocutaneous albinism II;OCA2;oculocutaneous albinism II |
Definition | P protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation |
Position | 15q |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | glycine cleavage complex;BioCyc;GLYCLEAV-PWY |
Disease | Black vs blond hair color;GAD |
Disease | Black vs. blond hair color;NHGRI |
Disease | Black vs red hair color;GAD |
Disease | Blond vs. brown hair color;NHGRI |
Disease | Blond vs brown hair color;GAD |
Disease | Albinism, oculocutaneous, type II;OMIM |
Disease | Skin/hair/eye pigmentation 1, blue/nonblue eyes;OMIM |
Disease | Black vs. red hair color;NHGRI |
Disease | Parkinson's disease (age of onset);NHGRI |
Disease | Eye color;NHGRI |
Disease | Albinism, brown oculocutaneous;OMIM |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Blue vs green eyes;GAD |
Disease | Skin/hair/eye pigmentation 1, blond/brown hair;OMIM |
Disease | NEUROLOGICAL;GAD |
Disease | Parkinson's disease (age of onset);GAD |
Disease | Blue vs brown eyes;GAD |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | Blue vs. brown eyes;NHGRI |
Disease | Hair color;NHGRI |
Disease | Oculocutaneous albinism;KEGG DISEASE;H00168 |
Disease | Blue vs. green eyes;NHGRI |
External Links | |
Links to Entrez Gene | 4948 |
Links to all GeneRIF Items | 4948 |
Links to iHOP | 4948 |
Sequence Information | |
Nucleotide Sequence | >4948 : length: 2517 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 |
Protein Sequence | >4948 : length: 838 MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN |