| Nomenclature | Genomic Location |
| Symbol | Oculocutaneous albinism II | Chromosome | 2 |
| Name | Oca2 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr2: 61 Mbp |
| Molecular Function |
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Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte.
Regulates the pH of melanosome and the melanosome maturation.
One of the components of the mammalian pigmentary system.
Seems to regulate the postranslational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis.
It can modulate intracellular glutathione metabolism.
Molecular Function Terms:
transporter activity
substrate-specific transporter activity
substrate-specific transmembrane transporter activity
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| Human Disease Association |
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Defects in OCA2 are the cause of albinism oculocutaneous type 2 (OCA2) [MIM:203200]. An autosomal
recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes.
Although affected infants may appear at birth to have complete absence of melanin pigment, most
patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and
nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with
age, and pigmented nevi or freckles may be seen. African and African American individuals may have
yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described
in African and African American populations and is characterized by light brown hair and skin color
and gray to tan irides.
Polymorphism: Genetic variations in OCA2 are associated with skin/hair/eye pigmentation
variability type 1 (SHEP1) [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue
eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1,
blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or
brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among
the most visible examples of human phenotypic variation, with a broad normal range that is subject
to substantial geographic stratification. In the case of skin, individuals tend to have lighter
pigmentation with increasing distance from the equator. By contrast, the majority of variation in
human eye and hair color is found among individuals of European ancestry, with most other human
populations fixed for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier
of the risk of malignant melanoma.
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1 AGGTATCACTTCACTTTGCCTAAATTCTTCAGCGCAAGGTCAAAAGATAGCTGTTTTACA
61 GAGAGAAGTCCCCTGTTGAAAGTTTCCACTGAAGAAAATGGTAATTCTGCATGCATGTTT
121 ATGGCTGTTCATAATACAGATTTCACCACAGATGATGACTCTTGGGAGAACAGCTCAGCT
181 GAATTTGAGCAAAGGTTTCAGCTGGGCAGTGAAATGGCCAGTCTGTCCAGATCTTCCTCA
241 GAGAAATCTGAAATGTTGGACCACTTTTATGTCAAATTCAATTTATCCAAGATGAGATGC
301 TGCTTAAGATTCTTCAAGGTTTCTGGCCTTTTTATCTTTGTAGTTGTATGCTCTGTTTTA
361 TTTAGCATTCATCCTGAAAATGGAACACCTTGGCAAATGCTGGCTGTGTCACCTATGGAG
421 AGCTATGTTGTGAACTTTAGCAATTTCAGTGATTCTGCCCTTCTAAAAGTAGAACTTGGA
481 GGGCCTTTTGTACCAGATCGGCAATCAGAAGATTATATGATTGTCCAAGTTAGACAAATG
541 GAAGACTCTGGTCCTAGAAGGCGACGTCAGCAGCAGATCTTGTATAACTGGACCCTGCCT
601 TTAAATTTAAGAGTCAATGAGCAAGTGATTGTATCAAGAATCTTTGAGATGTTAAACAGG
661 AGTGAAGAAACATCCATAAGTATCCAAGCTGTACTTCAGGAATCAGAAACCATTCCTCTT
721 TCCGTGACCTATCAATACCTTCATGCAAATGTAGAGACGCAAGTTACAATTGCATCAGTC
781 ATTTTAGCAGGTGTTTATGCGCTGATCATTTTTGAGATTGTTCACAGAACATTAGCAGCA
841 ATTCTTGGTTCCCTGGCTGCTTTGGCTGCCTTAGCTGCAATTGGTGATAAGCCGAGTCTG
901 GTCAAAGTAGTGGCATGGATTGATTATGAAACTCTGGCACTTCTATTTGGAATGATGCTG
961 CTAGTTGCCATCTTCTCTGAAACTGGATTTTTTGATTATTGTGCAGTGAAGGCTTATAGA
1021 CTCTCTAGAGGCAGAGTATGGGCCATGATTACCATTCTTTGTCTAATTGCTGCAATTCTC
1081 TCAGCCTTTTTGGACAATGTTACTACTATGCTCCTTTTTACTCCAGTCACTATAAGGTTA
1141 TGCGAGGTGCTTAATCTTGATCCCAGGCATGTCTTGATCGCCGAAGTAATCTTCACCAAC
1201 ATTGGAGGGGCTTCTACAGCTATTGGGGATCCACCAAATGTGATAATTGTTTCAAAGCAG
1261 GAGCTTAAGAAAGTGGGATTGGATTTTGCTGCATTTACAGGGCACATGTTTCTGGGAATC
1321 TGCCTTGTCCTTCTGGTCTCTGTGCCTTTCCTAAGACTCCTGTACTGGAACAAGAAATTT
1381 TACAACAAAGAACCAAGTGAAATTGTTGAACTGAAACATGAAATCCATGTCTGGAGACTG
1441 ACAGCCCAGCGAATTAACCCTGCCAGCAGAGAAGAGACCGCTGTAAAGTGCCTCTTAATG
1501 CAAAAAGTTCTTACTCTGGATCTCCTGCTGAAGAAAAAACTCAAAACATTCCATAGACAA
1561 ATTTCCCAAGAAGATAAAAACTGGGAAACAAATATCCAGGAGCTTCAAAAAAAGCATCGA
1621 ATAACAGACAAGATACTTCTTATCAAATGCCTGACTGTTTTAGGATTTGTTATCCTCATG
1681 TTCTTTCTCAATTCATTTGTTCCAGGAATTCACCTAGATCTCGGGTGGATTGCTATGCTG
1741 GGAGCAATATGGCTTCTTGTGTTAGCCAACATTCATGATTTTGAGATGATTCTGAACCGA
1801 GTGGAATGGGCAACACTCCTTTTCTTTGCAGCACTATTTATCTTAATGGAGGCTTTGGCT
1861 CACCTTCATTTAATAGAATACATAGGAGAACAGACAGCTTTGTTAATAAAGGTGGTGCCA
1921 GAGGACCAGCGTTTGACAGTTGCGATCATTTTAGTCCTTTGGGTCTCTGCTCTAGCATCA
1981 TCTCTAATTGACAATATTCCATTCACTGCTACAATGATCCCTGTGCTTCTCAACCTGAGT
2041 CAAGATCCAGAGGTTAACTTACCTGTGAAACCCCTCATCTTTTCCTTGGCCATGGGTGCC
2101 TGTCTAGGAGGTAATGGGACATTGATCGGAGCATCTGCAAATGTCGTTTGTGCAGGAATT
2161 GCTGAGCAACATGGTTATGGCTTCTCTTTCATGGAATTTTTCAGG
| Predicted Protein Product |
RYHFTLPKFFSARSKDSCFTERSPLLKVSTEENGNSACMFMAVHNTDFTTDDDSWENSSA
EFEQRFQLGSEMASLSRSSSEKSEMLDHFYVKFNLSKMRCCLRFFKVSGLFIFVVVCSVL
FSIHPENGTPWQMLAVSPMESYVVNFSNFSDSALLKVELGGPFVPDRQSEDYMIVQVRQM
EDSGPRRRRQQQILYNWTLPLNLRVNEQVIVSRIFEMLNRSEETSISIQAVLQESETIPL
SVTYQYLHANVETQVTIASVILAGVYALIIFEIVHRTLAAILGSLAALAALAAIGDKPSL
VKVVAWIDYETLALLFGMMLLVAIFSETGFFDYCAVKAYRLSRGRVWAMITILCLIAAIL
SAFLDNVTTMLLFTPVTIRLCEVLNLDPRHVLIAEVIFTNIGGASTAIGDPPNVIIVSKQ
ELKKVGLDFAAFTGHMFLGICLVLLVSVPFLRLLYWNKKFYNKEPSEIVELKHEIHVWRL
TAQRINPASREETAVKCLLMQKVLTLDLLLKKKLKTFHRQISQEDKNWETNIQELQKKHR
ITDKILLIKCLTVLGFVILMFFLNSFVPGIHLDLGWIAMLGAIWLLVLANIHDFEMILNR
VEWATLLFFAALFILMEALAHLHLIEYIGEQTALLIKVVPEDQRLTVAIILVLWVSALAS
SLIDNIPFTATMIPVLLNLSQDPEVNLPVKPLIFSLAMGACLGGNGTLIGASANVVCAGI
AEQHGYGFSFMEFFR
| Protein Alignment to Mouse |
sp|Q62052|P_MOUSE P protein OS=Mus musculus GN=Oca2 PE=1 SV=1
MGI:97454 Oca2 oculocutaneous albinism II (Chr 7)
Length = 833
Score = 2335 (827.0 bits), Expect = 5.4e-243, P = 5.4e-243
Identities = 461/730 (63%), Positives = 548/730 (75%)
Query: 11 SARSKDSCFTERSPLLKVSTEENGNSACMFMAVHNTDFTTDDDSWENSSAEFEQRFQLGX 70
S+ KD F E +PLL S+++ + M VH+ +F + SWEN +EQ+ LG
Sbjct: 82 SSSLKDLSFKEDTPLLWNSSQKKRSQ---LMPVHHPEFIATEGSWENGLTAWEQKCMLGK 138
Query: 71 XXXXXXXXXXXXXXML-DHFYVKFNLSKMRCCLRFFKVSGLFIFVVVCSVLFSIHPENGT 129
L +++ +SK+ CC+R+ K++GLF+FVV+CS+LFS++P+ G
Sbjct: 139 EVADLSALASSEKRDLAGSVHLRAQVSKLGCCVRWIKITGLFVFVVLCSILFSLYPDQGK 198
Query: 130 PWQMLAVSPMESYVVNFSNFSDSALLKVELGGPFVPDRQS----EDYMIVQVRQMEDSGP 185
WQ+LAVSP+E+Y VN S +DS +L+++L G + S E++++V V Q + +G
Sbjct: 199 FWQLLAVSPLENYSVNLSGHADSMILQLDLAGALMAGGPSGSGKEEHVVVVVTQTDAAGN 258
Query: 186 RRRRQQQILYNWTLPLNLRVNEQVIVSRIFEMLNRSEETSISIQAVLQESETIPLSVTYQ 245
RRRR QQ+ YNWT+ LN R +E V+VSR FE+++R E SISIQA LQ++ +PL + +Q
Sbjct: 259 RRRRPQQLTYNWTVLLNPR-SEHVVVSRTFEIVSR-EAVSISIQASLQQTRLVPLLLAHQ 316
Query: 246 YLHANVETQVTIASVILAGVYALIIFEIVHRTXXXXXXXXXXXXXXXXXXDKPSLVKVVA 305
+L A+VE QV A ILAGVY LIIFEIVHRT D+PSL VV
Sbjct: 317 FLGASVEAQVASAVAILAGVYTLIIFEIVHRTLAAMLGALAALAALAVVGDRPSLTHVVE 376
Query: 306 WIDYETLALLFGMMLLVAIFSETGFFDYCAVKAYRLSRGRVWAMITILCLIAAILSAFLD 365
WID+ETLALLFGMM+LVA+FSETGFFDYCAVKAY+LSRGRVWAMI +LCL+AAILSAFLD
Sbjct: 377 WIDFETLALLFGMMILVAVFSETGFFDYCAVKAYQLSRGRVWAMIFMLCLMAAILSAFLD 436
Query: 366 NVTTMLLFTPVTIRLCEVLNLDPRHVLIAEVIFTNIGGASTAIGDPPNVIIVSKQELKKV 425
NVTTMLLFTPVTIRLCEVLNLDPR VLIAEVIFTNIGGA+TAIGDPPNVIIVS QEL+K+
Sbjct: 437 NVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKM 496
Query: 426 GLDFAAFTGHMFLGICLVLLVSVPFLRLLYWNKKFYNKEPSEIVELKHEIHVWRLTAQRI 485
GLDFA FT HMFLGICLVLLVS P LRLLYWNKK YNKEPSEIVELKHEIHVWRLTAQRI
Sbjct: 497 GLDFAGFTAHMFLGICLVLLVSFPLLRLLYWNKKLYNKEPSEIVELKHEIHVWRLTAQRI 556
Query: 486 NPASREETAVKCXXXXXXXXXXXXXXXXXXTFHRQISQEDKNWETNIQELQKKHRITDKI 545
+PASREETAV+ TFHRQISQEDKNWETNIQELQ+KHRI+D+
Sbjct: 557 SPASREETAVRGLLLEKVLALEHLLAQRLHTFHRQISQEDKNWETNIQELQRKHRISDRS 616
Query: 546 LLIKCLTVLGFVILMFFLNSFVPGIHLDLGWIAMLGAIWLLVLANIHDFEMILNRVEWXX 605
LL+KCLTVLGFVI MFFLNSFVPGIHLDLGWIA+LGAIWLL+LA+IHDFE+IL+RVEW
Sbjct: 617 LLVKCLTVLGFVISMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWAT 676
Query: 606 XXXXXXXXXXXXXXXHLHLIEYIGEQTALLIKVVPEDQRLTVAIIXXXXXXXXXXXXIDN 665
HLHL+EY+GEQTALLIK+VPEDQR AI+ IDN
Sbjct: 677 LLFFAALFVLMEALTHLHLVEYVGEQTALLIKMVPEDQRFAAAIVLIVWVSALASSLIDN 736
Query: 666 IPFTATMIPVLLNLSQDPEVNLPVKPLIFSLAMGACLGGNGTLIGASANVVCAGIAEQHG 725
IPFTATMIPVLLNLSQDPE++LP PL+++LA+GACLGGNGTLIGAS NVVCAGIAE+HG
Sbjct: 737 IPFTATMIPVLLNLSQDPEISLPALPLMYALALGACLGGNGTLIGASTNVVCAGIAEKHG 796
Query: 726 YGFSFMEFFR 735
YGFSFMEFFR
Sbjct: 797 YGFSFMEFFR 806
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