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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4948
Gene name	OCA2 melanosomal transmembrane protein
Gene symbol	OCA2
Synonyms (NCBI Gene)	BEYBEY1BEY2BOCAD15S12EYCLEYCL2EYCL3HCL3PPEDSHEP1SLC13B1
Chromosome	15
Chromosome location	15q12-q13.1
Summary	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

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

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	25513726
GO:0005515	Function	Protein binding	IPI	19116314
GO:0005765	Component	Lysosomal membrane	IDA	19116314
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19116314
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IDA	25513726, 32966160
GO:0007286	Process	Spermatid development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010008	Component	Endosome membrane	IDA	19116314
GO:0016020	Component	Membrane	IEA
GO:0030318	Process	Melanocyte differentiation	IBA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0033162	Component	Melanosome membrane	IBA
GO:0033162	Component	Melanosome membrane	IDA	19116314
GO:0033162	Component	Melanosome membrane	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	25513726, 32966160
GO:0042438	Process	Melanin biosynthetic process	IBA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
611409	8101	ENSG00000104044

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

678

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Albinism	Likely pathogenic; Pathogenic	rs141949212, rs1384042381	RCV000505060 RCV000504873
Albinism or congenital nystagmus	Likely pathogenic; Pathogenic	rs121918166, rs142988897	RCV004584136 RCV006261989
Brown oculocutaneous albinism	Pathogenic	rs1555375711	RCV000001003
Hypophosphatasia	Pathogenic	rs201791790	RCV004540683
Melanoma	Likely pathogenic; Pathogenic	rs797045839	RCV005892342
Nonsyndromic Oculocutaneous Albinism	Likely pathogenic; Pathogenic	rs121918167, rs1555368749, rs200457227, rs1566767423, rs1566797858, rs759740402, rs779461179, rs1567200202	RCV000755092 RCV000755085 RCV000755093 RCV000755083 RCV000755081 RCV000755091 RCV000755082 RCV000755086
OCA2-related disorder	Likely pathogenic; Pathogenic	rs758894409, rs772019064, rs746307353, rs765235945, rs1368074390, rs121918166, rs121918170, rs2036555943, rs1169783208, rs774822330, rs141545475, rs748287294, rs781727577, rs797044784, rs368124046 View all (12 more)	RCV004743448 RCV003910909 RCV004743555 RCV003395322 RCV004743670 RCV003415611 RCV003421891 RCV004744336 RCV003408208 RCV004744540 RCV004744541 RCV003418721 RCV003395573 RCV003398903 RCV004742323 RCV004741589 RCV003391402 RCV003416734 RCV003400331 RCV003420911 RCV003418094 RCV004742450 RCV003424048 RCV004742457 RCV003424061 RCV003424163 RCV003396593
Oculocutaneous albinism	Pathogenic; Likely pathogenic	rs774822330, rs387906240, rs121918167, rs121918169, rs121918170, rs748287294, rs763819379, rs1297737900, rs373775562, rs780628028, rs201791790, rs2548339234, rs766188851, rs1389984924, rs183101063 View all (8 more)	RCV005406236 RCV003323345 RCV005406715 RCV003317027 RCV003492280 RCV003331419 RCV004689667 RCV003155832 RCV004701347 RCV003317723 RCV004526261 RCV005240776 RCV004765847 RCV003493355 RCV004690434 RCV005433413 RCV005407240 RCV004767248 RCV003492077 RCV003330734 RCV004702403 RCV003492198 RCV003331021
See cases	Likely pathogenic; Pathogenic	rs121918166	RCV002251850
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Likely pathogenic; Pathogenic	rs758894409, rs762262964, rs772019064, rs769408559, rs746307353, rs1476192724, rs759876062, rs1344047706, rs747408689, rs770635415, rs749661379, rs747395624, rs2041525028, rs752460023, rs777893926 View all (76 more)	RCV002499794 RCV005005257 RCV003470868 RCV002477856 RCV005005979 RCV005006050 RCV003470914 RCV004572005 RCV003464297 RCV003464272 RCV005006159 RCV005006229 RCV004571729 RCV003471002 RCV003464210 RCV005002672 RCV003471112 RCV003471115 RCV003471139 RCV005008307 RCV004571770 RCV004566666 RCV000477815 RCV000762938 RCV003466773 RCV001262139 RCV000762940 RCV003471310 RCV003471311 RCV004571173 RCV003459728 RCV004572732 RCV003459729 RCV003459730 RCV003465926 RCV005010961 RCV005010962 RCV005011020 RCV003468873 RCV006275861 RCV005002891 RCV003468885 RCV000762939 RCV005008126 RCV003466027 RCV005008218 RCV004572919 RCV003463219 RCV003463220 RCV003463221 RCV003463222 RCV003463223 RCV003463224 RCV003463225 RCV003471626 RCV003463226 RCV003471627 RCV003471628 RCV003471629 RCV003471631 RCV003471632 RCV003471633 RCV003471634 RCV003471636 RCV003471637 RCV003471638 RCV003471639 RCV005003669 RCV005003670 RCV004574216 RCV004573146 RCV004574410 RCV004574411 RCV004574412 RCV004574413 RCV004574414 RCV004574415 RCV002480264 RCV004567899 RCV003470590 RCV000762937 RCV000762936 RCV003464075 RCV002490839 RCV005010444 RCV004568314 RCV005004272 RCV003465688 RCV006275876 RCV003465687 RCV004796302 RCV005004413 RCV002497282 RCV003467584 RCV003467756
Tyrosinase-positive oculocutaneous albinism	Likely pathogenic; Pathogenic	rs758894409, rs762262964, rs772019064, rs769408559, rs746307353, rs1476192724, rs2140619474, rs752727398, rs2140706418, rs747408689, rs770635415, rs749661379, rs747395624, rs2041525028, rs752460023 View all (88 more)	RCV001797836 RCV005005257 RCV001810100 RCV002477856 RCV005005979 RCV005006050 RCV001797002 RCV001806445 RCV001808893 RCV005006316 RCV005006277 RCV004017879 RCV003452160 RCV005002720 RCV005002635 RCV005002672 RCV006275890 RCV003128278 RCV003232462 RCV002274238 RCV002052129 RCV000001002 RCV000001004 RCV000001006 RCV000001007 RCV000001008 RCV000001009 RCV000001011 RCV000001012 RCV002274285 RCV002274286 RCV002274287 RCV002282795 RCV002283622 RCV002283758 RCV002284014 RCV002470202 RCV003128321 RCV005002929 RCV004782995 RCV005010961 RCV003128325 RCV005011020 RCV005632284 RCV000180125 RCV000234793 RCV000234803 RCV005002891 RCV000193498 RCV000194788 RCV000193557 RCV000192364 RCV003128358 RCV003128359 RCV003128361 RCV003128362 RCV003128363 RCV003128364 RCV003128365 RCV003128241 RCV005003054 RCV003318427 RCV003319596 RCV003443471 RCV003443472 RCV005012963 RCV004796813 RCV005636940 RCV003484421 RCV005012964 RCV003883219 RCV003485992 RCV005003669 RCV005003670 RCV004796841 RCV006249901 RCV005624515 RCV005003768 RCV001797713 RCV000762937 RCV000496043 RCV000500809 RCV000504359 RCV000502094 RCV000501883 RCV000500321 RCV000500286 RCV005010444 RCV001797757 RCV002282270 RCV002250689 RCV000851380 RCV000851379 RCV000851378 RCV000851377 RCV000851376 RCV000851375 RCV000851381 RCV000779152 RCV000989277 RCV005012438 RCV003128258 RCV001269031 RCV001249766 RCV001263486

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs7495174, rs4778241	-
Cervical cancer	Benign	rs1800405	RCV005889695
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs375281082	RCV005893350
Colon adenocarcinoma	Benign	rs1800405	RCV005889694
Colorectal cancer	Benign	rs1800405	RCV005889696
Cone-rod dystrophy	Conflicting classifications of pathogenicity	rs150711896	RCV005626334
Gastric cancer	Benign	rs12438490	RCV005920032
Lung cancer	Benign	rs1800405	RCV005889698
Malignant lymphoma, large B-cell, diffuse	Benign	rs7173419	RCV005919789
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs145242923	RCV005898768
Uterine corpus endometrial carcinoma	Benign	rs1800405	RCV005889699
Uveal melanoma	Benign; Conflicting classifications of pathogenicity	rs7173419, rs145242923	RCV005919788 RCV005898767

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)