Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4948
Gene name Gene Name - the full gene name approved by the HGNC.	OCA2 melanosomal transmembrane protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OCA2
Synonyms (NCBI Gene) Gene synonyms aliases	BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1, SLC13B1
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q12-q13.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is

Show/Hide all(67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800401	G>A	Affects, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs1800407	C>T	Affects, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs1800408	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs61738394	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs74653330	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs121918166	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918167	G>A	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121918168	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918169	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918170	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918171	C>T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs141949212	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs142931246	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs142988897	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs144812594	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs145968118	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs147736385	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs147816326	T>C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs183487020	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs185504549	C>A	Pathogenic	Splice donor variant
rs200457227	G>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs202091837	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs368124046	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Intron variant
rs371412500	G>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs371963034	C>T	Pathogenic	Intron variant, splice donor variant
rs387906240	C>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs387906241	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs570914443	G>A	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs749249918	G>A,C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs757286784	T>G	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs759740402	T>C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs763219039	C>A	Pathogenic	Splice donor variant
rs763819379	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs765779905	A>G,T	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs767092342	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767489236	GGTGATAAGGCCAACAGC>-	Pathogenic-likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs771620099	GGACA>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs772324459	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs772595552	A>-,AA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs776814755	C>T	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs779461179	A>C	Likely-pathogenic	Intron variant
rs780296175	G>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs780625433	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs794727898	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044784	CCAG>GACC	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045838	T>A,C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045839	C>T	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs868238523	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs879253729	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518192	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064796956	A>C	Pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1312967591	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1374558186	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1384042381	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555368749	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1555375711	GCTGTGGCCGCCGCCACCTGGAGCCCAAAGCGTCAGCCTGGGTCAGCTCCACCACGATGTGCTCTTCCCTCCCAGGACGACTCGGCCCACTGGCCACTAGGGCCCCTGCCAGGTCCACCTGCAGCAGCGTGGAGTCCACGTGGCTGCTAAGGTTCACGGCT>-	Pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1555391997	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1555392037	GCTCCCCG>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1555422232	C>T	Pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1566767423	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1566797858	G>TCT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1567200202	->A	Likely-pathogenic	Splice donor variant, intron variant
rs1595660890	AA>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1595717218	T>C	Likely-pathogenic	Splice acceptor variant
rs1595760903	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1595764680	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1595774445	GGGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant

Show/Hide all(50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022272	hsa-miR-124-3p	Microarray	18668037
MIRT047322	hsa-miR-181a-5p	CLASH	23622248
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT446417	hsa-miR-6783-5p	PAR-CLIP	22100165
MIRT446416	hsa-miR-1249-5p	PAR-CLIP	22100165
MIRT446415	hsa-miR-6797-5p	PAR-CLIP	22100165
MIRT446414	hsa-miR-1299	PAR-CLIP	22100165
MIRT446413	hsa-miR-516b-5p	PAR-CLIP	22100165
MIRT446412	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT446410	hsa-miR-5706	PAR-CLIP	22100165
MIRT446411	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446409	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT446408	hsa-miR-6515-5p	PAR-CLIP	22100165
MIRT1201759	hsa-miR-337-3p	CLIP-seq
MIRT1201760	hsa-miR-3685	CLIP-seq
MIRT1201761	hsa-miR-384	CLIP-seq
MIRT1201762	hsa-miR-3924	CLIP-seq
MIRT1201763	hsa-miR-4694-5p	CLIP-seq
MIRT1201764	hsa-miR-4711-3p	CLIP-seq
MIRT1201765	hsa-miR-4764-5p	CLIP-seq
MIRT1201766	hsa-miR-511	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
HLTF	Activation	22234890
LEF1	Activation	22234890
MITF	Activation	22234890

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005215	Function	Transporter activity	TAS	8302318, 8421497
GO:0005302	Function	L-tyrosine transmembrane transporter activity	TAS	7601462
GO:0005515	Function	Protein binding	IPI	19116314
GO:0005737	Component	Cytoplasm	TAS	7601462
GO:0005765	Component	Lysosomal membrane	IDA	19116314
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19116314
GO:0006726	Process	Eye pigment biosynthetic process	TAS	8421497
GO:0007286	Process	Spermatid development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010008	Component	Endosome membrane	IDA	19116314
GO:0015828	Process	Tyrosine transport	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0033162	Component	Melanosome membrane	IDA	19116314
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
611409	8101	ENSG00000104044

Protein

UniProt ID

Q04671

Protein name

P protein (Melanocyte-specific transporter protein) (Pink-eyed dilution protein homolog)

Protein function

Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03600	CitMHS	342 → 775	Citrate transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes and retinal pigment epithelium. {ECO:0000269|PubMed:25513726, ECO:0000269|PubMed:32966160}.

Sequence

MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS
WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF
ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV
MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG
PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV
SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS
LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG
RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA
ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE
PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW
LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR
LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG
NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN

Sequence length

838

Interactions

View interactions

	Reactome
			Melanin biosynthesis

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Angelman syndrome	Angelman syndrome due to maternal 15q11q13 deletion	rs111033595, rs111033596, rs111033597, rs2147483647, rs28934904, rs267608434, rs28935468, rs61748396, rs398124440, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570 View all (136 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Carcinoma	Squamous cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	31174203, 26829030
Esophagus neoplasm	Esophageal Neoplasms	rs28934578, rs121918714, rs1567556006, rs1575166666	22960999
Melanoma	melanoma, Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	28212542, 26237428
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculocutaneous albinism	Albinism, Oculocutaneous, Oculocutaneous albinism type 2	rs387906240, rs121918167, rs121918169, rs121918170, rs28940876, rs104894314, rs61754388, rs61753185, rs104894313, rs61754393, rs28940879, rs61753178, rs61753180, rs61754375, rs61754387 View all (55 more)	8302318, 18821858, 22734612, 26818737, 12713581, 8980282, 12727022, 25919014, 10649493, 9259203, 24845642, 12876664, 27468418, 23744323, 17960121 View all (22 more)
Uveal melanoma	Uveal melanoma	rs1559588632	28781888

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	References	Source
Unknown
Malignant melanoma of skin	Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb		26237428	ClinVar
Prader-willi syndrome	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			ClinVar
Uveal Melanoma	Uveal Melanoma	Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro.		GWAS, CBGDA
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining
Albinism	Associate	29036293, 30414346, 33808351, 35328057, 37431738, 38279271, 39349469, 7762554
Albinism Ocular	Associate	20806075, 21541274
Albinism Oculocutaneous	Associate	20806075, 21541274, 22734612, 28266639, 31199599, 31345173, 33124154, 33800529, 34246199, 35328057, 35704304, 35870188, 36672876, 37431738, 37882226, 8651291, 9321758 View all (2 more)
Astigmatism	Associate	30306274, 30747064
Borderline Personality Disorder	Associate	25612291
Breast Neoplasms	Associate	18284607
Brown Oculocutaneous Albinism	Associate	11179026
Carcinoma Non Small Cell Lung	Associate	18284607
Carcinoma Squamous Cell	Associate	27424798, 28456133
Color Vision Defects	Associate	17236130, 18252222, 18483556, 23548203, 23555287
Diabetes Mellitus	Associate	20452983, 9670003
Diabetes Mellitus Type 2	Associate	9670003
Disease	Associate	31345173
Glioblastoma	Associate	19432816
Hermanski Pudlak Syndrome	Associate	36672876
Hypopigmentation	Associate	21541274
Insulin Resistance	Associate	9670003
Lung Neoplasms	Associate	18284607
Macular Degeneration	Associate	21541274, 30747064
Melanoma	Associate	17611626, 18252222, 30414346, 31630191
Melanoma Cutaneous Malignant	Associate	19710684, 29036293
Melanosis	Associate	25410285
Myopia	Associate	29346494
Myopia Degenerative	Associate	30747064
Neoplasms	Associate	21895963, 36534940
Nevus	Associate	25410285
Nonsyndromic Deafness	Associate	29346494
Nystagmus Congenital	Associate	21541274
Nystagmus Pathologic	Associate	22734612, 31345173
Oculocutaneous albinism type 1	Associate	31199599
Oculocutaneous albinism type 2	Associate	12713581, 18528436, 22065085, 31199599, 31345173, 36059514, 37882226, 7762554
Oculocutaneous Albinism Type IV	Associate	31199599
Oculomotor Nerve Diseases	Associate	33531592
Pediatric Obesity	Associate	25612291
Photophobia	Associate	22734612
Piebaldism	Associate	31719542
Pigmentation Disorders	Associate	21270109, 22065085, 22734612, 28456133, 29974532, 33600456, 36980970
Prostatic Neoplasms	Associate	29518100
Skin Hair Eye Pigmentation Variation In 6	Associate	22065085, 36980970
Skin Hair Eye Pigmentation Variation In 7	Associate	22065085
Skin Neoplasms	Associate	17236130, 23548203, 28456133
Thyroid Neoplasms	Associate	16452205, 36059514
Usher syndrome type 1B	Associate	31345173
Uveal melanoma	Associate	27499155
Vitiligo	Associate	40052928

OCA2 (OCA2 melanosomal transmembrane protein)