Gene Section Short Communication Atlas Genet Cytogenet Oncol Haematol. 2016; 20(12) 592 Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST-CNRS OPEN ACCESS JOURNAL OCA2 (OCA2 melanosomal transmembrane protein) Kunal Ray, Mainak Sengupta, Sampurna Ghosh Academy of Scientific and Innovative Research (AcSIR), Campus at CSIR - Central Road Research Institute, Mathura Road, New Delhi - 110 025, kunalray@gmail.com (KR); University of Calcutta, Department of Genetics, 35, Ballygunge Circular Road, Kolkata - 700 019, sengupta.mainak@gmail.com); sampurna_ghosh@yahoo.in (MS, SG) India. Published in Atlas Database: April 2016 Online updated version : http://AtlasGeneticsOncology.org/Genes/OCA2ID45789ch15q12.html Printable original version : http://documents.irevues.inist.fr/bitstream/handle/2042/66945/04-2016-OCA2ID45789ch15q12.pdf DOI: 10.4267/2042/66945 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2016 Atlas of Genetics and Cytogenetics in Oncology and Haematology Abstract OCA2 gene (OCA2), having a chromosomal location of 15q12-q13, encodes an integral membrane transporter protein playing a role in regulating the pH of melanosomes. OCA2 is hypothesized to be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Defects in this gene are the cause of oculocutaneous albinism type II; OCA II. Keywords: OCA2, albinism, OCA II Identity Other names: SHEP1, EYCL2, EYCL3, BOCA, BEY1, BEY2, EYCL, HCL3, PED, BEY, D15S12, PEDH HGNC (Hugo): OCA2 Location: 15q12 DNA/RNA Description In Chromosome: 15, the 344,486 bases long gene starts from 27,754,873 bp from pter and ends at 28,099,358 bp from pter; Orientation: Minus strand. It contains 24 exons and spans ~344.5 kb of the genome. Transcription The gene encodes a 3154 bp transcript. Alternative splicing results in at least two transcript variants. Variant 2 lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform that is shorter than isoform 1. Cytogenetic band showing OCA2 locus (Ref: http://www.genecards.org/cgi-bin/carddisp.pl?gene=OCA2&keywords=OCA2) Protein