Gene: Oca2

Basic information

Tag Content
Uniprot ID Q62052; Q0VBP9;
Entrez ID 18431
Genbank protein ID AAI20550.1; AAA39908.1; AAI19221.1;
Genbank nucleotide ID XM_006540699.1; NM_021879.2;
Ensembl protein ID ENSMUSP00000032633
Ensembl nucleotide ID ENSMUSG00000030450
Gene name P protein
Gene symbol Oca2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 8389469; 8601493;
Functional description 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.
Sequence
MRLENKDIRL ASAVLEVELH QTSALSVPTC PDPGRLLTVK PATSNYKLGQ ADPCIPYAGE 60
AAGKSVCVPE HTEFGSFLVK GSSSLKDLSF KEDTPLLWNS SQKKRSQLMP VHHPEFIATE 120
GSWENGLTAW EQKCMLGKEV ADLSALASSE KRDLAGSVHL RAQVSKLGCC VRWIKITGLF 180
VFVVLCSILF SLYPDQGKFW QLLAVSPLEN YSVNLSGHAD SMILQLDLAG ALMAGGPSGS 240
GKEEHVVVVV TQTDAAGNRR RRPQQLTYNW TVLLNPRSEH VVVSRTFEIV SREAVSISIQ 300
ASLQQTRLVP LLLAHQFLGA SVEAQVASAV AILAGVYTLI IFEIVHRTLA AMLGALAALA 360
ALAVVGDRPS LTHVVEWIDF ETLALLFGMM ILVAVFSETG FFDYCAVKAY QLSRGRVWAM 420
IFMLCLMAAI LSAFLDNVTT MLLFTPVTIR LCEVLNLDPR QVLIAEVIFT NIGGAATAIG 480
DPPNVIIVSN QELRKMGLDF AGFTAHMFLG ICLVLLVSFP LLRLLYWNKK LYNKEPSEIV 540
ELKHEIHVWR LTAQRISPAS REETAVRGLL LEKVLALEHL LAQRLHTFHR QISQEDKNWE 600
TNIQELQRKH RISDRSLLVK CLTVLGFVIS MFFLNSFVPG IHLDLGWIAI LGAIWLLILA 660
DIHDFEIILH RVEWATLLFF AALFVLMEAL THLHLVEYVG EQTALLIKMV PEDQRFAAAI 720
VLIVWVSALA SSLIDNIPFT ATMIPVLLNL SQDPEISLPA LPLMYALALG ACLGGNGTLI 780
GASTNVVCAG IAEKHGYGFS FMEFFRLGFP VMLMSCTIGM CYLLIAHIVV GWN 833

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologOCA2A0A452G2D0Capra hircusPredictionMore>>
1:1 orthologOCA24948Q04671Homo sapiensPredictionMore>>
1:1 orthologOca218431Q62052CPOMus musculusPublicationMore>>
1:1 orthologOCA2453261A0A2I3TCV4Pan troglodytesPredictionMore>>
1:1 orthologA0A287A8S4Sus scrofaPredictionMore>>
1:1 orthologOca2100365773Q4LEV3Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence
GO:0007286 spermatid developmentIMP
GO:0008283 cell population proliferationIMP
GO:0030318 melanocyte differentiationIMP
GO:0042438 melanin biosynthetic processIMP
GO:0043473 pigmentationIMP
GO:0048066 developmental pigmentationIMP
GO:0055085 transmembrane transportIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005765 lysosomal membraneISO
GO:0005789 endoplasmic reticulum membraneISO
GO:0010008 endosome membraneISO
GO:0016021 integral component of membraneIEA
GO:0033162 melanosome membraneISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-5662702 Melanin biosynthesisIEA
R-MMU-71291 Metabolism of amino acids and derivativesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0015 Albinism
KW-0325 Glycoprotein
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR004680 Cit_transptr-like_dom

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03600 CitMHS