Gene: OCA2

Basic information

Tag Content
Uniprot ID A0A2I3TCV4
Entrez ID 453261
Genbank protein ID
Genbank nucleotide ID XM_016927806.1
Ensembl protein ID ENSPTRP00000087083
Ensembl nucleotide ID ENSPTRG00000006834
Gene name OCA2 melanosomal transmembrane protein
Gene symbol OCA2
Organism Pan troglodytes
NCBI taxa ID 9598
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MHLEGRDGRR YPGTPAVELL QTSVPTGLAE LAAGKHRLPR GAGGADPSHS CPSGAAGQSS 60
WAPAGQEFAS FLTKGRSHSS LPQMSSSRSK DSCFTENTPL LRNSLQEKGS RCIPVYHPEF 120
ITAEESWEDS SADWERRYLL SREVSGLSAS ASSEKGDLLD SPHIRLRLSK LRRCVQWLKV 180
TGLFVFVVLC SILFSLYPDQ GKLWQLLALS PLENYSVNLS SHVDSTLLQV DLAGALVASG 240
PSRPGREEHI VVELTQADAL GSRWRRPQQV THNWTVYLNP RRSEHSVMSR TFEVLTRETV 300
SISIRASLQQ TQAVPLLMAH QYLRGSVEAQ VTIATAILAG VYALIIFEIV HRTLAAMLGS 360
LAALAALAVI GDRPSLTHVV EWIDFETLAL LFGMMILVAI FSETGFFDYC AVKAYRLSRG 420
RVWAMIIMLC LIAAVLSAFL DNVTTMLLFT PVTIRLCEVL NLDPRQVLIA EVIFTNIGGA 480
ATAIGDPPNV IIVSNQELRK MGLDFAGFTA HMFIGICLVL LVCFPLLRLL YWNRKLYNKE 540
PSEIVELKHE IHVWRLTAQR ISPASREETA VRRLLLGKVL ALEHLLAQRL HTFHRQISQE 600
DKNWETNIQE LQKKHRISDG ILLAKCLTVL GFAIFMFFLN SFVPGIHLDL GWIAILGAIW 660
LLILADIHDF EIILHRVEWA TLLFFAALFV LMEALAHLHL IEYVGEQTAL LIKMVPEEQR 720
LTAAIVLVVW VSALASSLID NIPFTATMIP VLLNLSHDPE VGLPAPPLMY ALAFGACLGG 780
NGTLIGASAN VVCAGIAEQH GYGFSFMEFF RLGFPMMVVS CTVGMCYLLV AHVVVGWN 838

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 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>>

Gene ontology

GO ID GO Term
GO:0005789 endoplasmic reticulum membrane
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0005765 lysosomal membrane
GO:0033162 melanosome membrane
GO:0055085 transmembrane transport

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR004680 Cit_transptr-like_dom

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03600 CitMHS