OCA2
MCID: ALB021
MIFTS: 53

Albinism, Oculocutaneous, Type Ii (OCA2)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 58 41
Oca2 58 12 25 54 60 76
Oculocutaneous Albinism Type 2 77 25 54 60 74
Tyrosinase-Positive Oculocutaneous Albinism 54 30 6
Oculocutaneous Albinism Type Ii 12 76 15
Brown Oculocutaneous Albinism 76 6 74
Oculocutaneous Albinism, Tyrosinase-Positive 58 12
Albinism, Brown Oculocutaneous 58 13
Albinism Ii 58 76
Albinoidism 54 74
Albinism, Oculocutaneous, Type Ii, Modifier of 58
Oculocutaneous Albinism, Type Ii, Modifier of 6
Oculocutaneous Albinism, Tyrosinase Positive 77
Oculocutaneous Albinism Tyrosinase Positive 54
Oculocutaneous Albinism Tyrosinase-Positive 76
Oculocutaneous Albinism, Type Ii 58
Albinism, Oculocutaneous, Type 2 54
Albinism, Oculocutaneous, 2 76
Albinism 2 54
Oca-2 76
Boca 76

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 2
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype with regard to pigmentation
one of the 2 most common forms of oca in the world along with oca1
high frequency in equatorial africa
individuals may accumulate more pigment in hair and eyes with age
prevalence of 1 in 10,000 caucasians
prevalence of 1 in 10,000 african-americans
prevalence of 1 in 227 hopi indians
prevalence of 1 in 240 zuni indians
prevalence of 1 in 7,900 in cameroon
prevalence of 1 in 3,900 in south africa
prevalence of 1 in 1,429 in tanzania
prevalence of 1 in 2,833 in zimbabwe
see also oca1a


HPO:

33
albinism, oculocutaneous, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Ii

OMIM : 58 Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001). (203200)

MalaCards based summary : Albinism, Oculocutaneous, Type Ii, also known as oca2, is related to albinism, oculocutaneous, type iii and congenital nystagmus. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways is Melanin biosynthesis. Affiliated tissues include skin, eye and retina, and related phenotypes are iris hypopigmentation and nystagmus

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13.

NIH Rare Diseases : 54 Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : 76 Albinism, oculocutaneous, 2: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

Wikipedia : 77 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

GeneReviews: NBK1232

Related Diseases for Albinism, Oculocutaneous, Type Ii

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V

Diseases related to Albinism, Oculocutaneous, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type iii 32.4 OCA2 SLC45A2 TYR TYRP1
2 congenital nystagmus 32.3 MC1R OCA2 TYR
3 acute contagious conjunctivitis 32.1 MC1R OCA2 TYR
4 acute conjunctivitis 32.0 MC1R OCA2
5 dyschromatosis symmetrica hereditaria 31.7 OCA2 TYR
6 albinism 31.5 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
7 ocular albinism 31.3 OCA2 SLC45A2 TYR TYRP1
8 hermansky-pudlak syndrome 1 31.0 OCA2 SLC24A5 SLC45A2 TYR
9 albinism, oculocutaneous, type iv 30.9 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
10 pathologic nystagmus 30.8 HPS5 HPS6 OCA2 SLC45A2 TYR
11 albinism, oculocutaneous, type ib 30.7 OCA2 SLC24A5 SLC45A2 TYR TYRP1
12 albinism, oculocutaneous, type vii 30.7 OCA2 SLC24A5 SLC45A2 TYR TYRP1
13 albinism, oculocutaneous, type ia 30.7 OCA2 SLC24A5 SLC45A2 TYR TYRP1
14 albinism, oculocutaneous, type v 30.4 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
15 oculocutaneous albinism 30.3 HPS5 HPS6 MC1R OCA2 SLC24A5 SLC45A2
16 brachymetapody-anodontia-hypotrichosis-albinoidism 12.2
17 skin/hair/eye pigmentation, variation in, 1 11.7
18 melanoma, cutaneous malignant 1 11.4
19 dilution, pigmentary 11.2
20 prader-willi syndrome 11.1
21 panencephalitis, subacute sclerosing 11.1
22 glycine encephalopathy 11.1
23 piebald trait 11.1
24 cole disease 11.1
25 hypomelanotic disorder 11.1
26 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 10.9
27 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 10.9
28 angelman syndrome due to maternal 15q11q13 deletion 10.9
29 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 10.9
30 xp22.3 microdeletion syndrome 10.6
31 melanoma 10.3
32 breast cancer 10.1
33 angelman syndrome 10.1
34 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR TYRP1
35 melanocytic nevus syndrome, congenital 10.1 MC1R TYR
36 amelanotic melanoma 10.1 TYR TYRP1
37 dowling-degos disease 1 10.1 TYR TYRP1
38 waardenburg syndrome, type 2a 10.0 TYR TYRP1
39 diabetes mellitus, insulin-dependent 10.0
40 hepatitis 10.0
41 chagas disease 10.0
42 epilepsy 10.0
43 hepatitis e 10.0
44 anthrax disease 10.0
45 increased analgesia from kappa-opioid receptor agonist, female-specific 10.0
46 estrogen-receptor negative breast cancer 10.0
47 sickle cell disease 10.0
48 chediak-higashi syndrome 10.0 TYR TYRP1
49 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MC1R TYR TYRP1
50 vogt-koyanagi-harada disease 9.9 TYR TYRP1

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Ii:



Diseases related to Albinism, Oculocutaneous, Type Ii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Ii

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
4 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
5 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
6 freckling 60 33 frequent (33%) Frequent (79-30%) HP:0001480
7 abnormality of the optic nerve 60 33 frequent (33%) Frequent (79-30%) HP:0000587
8 albinism 60 33 frequent (33%) Frequent (79-30%) HP:0001022
9 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
10 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
11 basal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002671
12 myopia 33 HP:0000545
13 reduced visual acuity 33 HP:0007663
14 hypopigmentation of hair 60 Frequent (79-30%)
15 blue irides 33 HP:0000635
16 hypopigmentation of the fundus 33 HP:0007894
17 hypoplasia of the fovea 33 HP:0007750
18 hypopigmentation of the skin 60 Frequent (79-30%)
19 exotropia 33 HP:0000577
20 red hair 33 HP:0002297
21 freckles in sun-exposed areas 33 HP:0007603

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
translucent irides
foveal hypoplasia
decreased visual acuity
more
Skin Nails Hair Hair:
white to golden blonde or red hair
hair darkens with age
'yellow' hair occurs in individuals of african descent

Skin Nails Hair Skin:
freckles in sun-exposed areas
white at birth
tone does not appreciably change with age
no tanning

Laboratory Abnormalities:
hair bulbs will pigment when incubated with tyrosine

Clinical features from OMIM:

203200

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Ii:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 HPS5 HPS6 MC1R OCA2 SLC24A4 SLC24A5
2 craniofacial MP:0005382 10.08 HPS5 HPS6 MC1R OCA2 SLC24A4 SLC24A5
3 hearing/vestibular/ear MP:0005377 9.98 HPS5 HPS6 MC1R OCA2 SLC24A5 TYR
4 behavior/neurological MP:0005386 9.97 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
5 homeostasis/metabolism MP:0005376 9.97 HPS5 HPS6 OCA2 SLC24A4 SLC24A5 SLC45A2
6 hematopoietic system MP:0005397 9.88 HPS5 HPS6 MC1R OCA2 SLC24A4 TYRP1
7 integument MP:0010771 9.86 HPS5 HPS6 MC1R OCA2 SLC24A5 SLC45A2
8 immune system MP:0005387 9.8 HPS5 HPS6 MC1R OCA2 SLC24A4 TYR
9 pigmentation MP:0001186 9.56 HPS5 HPS6 MC1R OCA2 SLC24A5 SLC45A2
10 limbs/digits/tail MP:0005371 9.46 HPS5 MC1R OCA2 TYR
11 vision/eye MP:0005391 9.17 HPS5 HPS6 OCA2 SLC24A5 SLC45A2 TYR

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ii

Search Clinical Trials , NIH Clinical Center for Albinism, Oculocutaneous, Type Ii

Genetic Tests for Albinism, Oculocutaneous, Type Ii

Genetic tests related to Albinism, Oculocutaneous, Type Ii:

# Genetic test Affiliating Genes
1 Tyrosinase-Positive Oculocutaneous Albinism 30 MC1R OCA2

Anatomical Context for Albinism, Oculocutaneous, Type Ii

MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Ii:

42
Skin, Eye, Retina, Breast, Testes

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show top 50) (show all 106)
# Title Authors Year
1
Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes. ( 30977151 )
2019
2
OCA2 rs4778137 polymorphism predicts survival of breast cancer patients receiving neoadjuvant chemotherapy. ( 29409738 )
2018
3
CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus. ( 29555241 )
2018
4
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ( 28973042 )
2017
5
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
6
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. ( 28451379 )
2017
7
Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population. ( 28081795 )
2017
8
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs. ( 28456133 )
2017
9
The transcription factor TBX2 regulates melanogenesis in melanocytes by repressing Oca2. ( 26971330 )
2016
10
Importance of nonsynonymous OCA2 variants in human eye color prediction. ( 27468418 )
2016
11
Is the MC1R variant p.R160W associated with Parkinson's? ( 26389967 )
2016
12
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. ( 25530116 )
2015
13
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. ( 25919014 )
2015
14
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. ( 25736709 )
2015
15
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. ( 25631192 )
2015
16
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. ( 25469862 )
2015
17
Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2. ( 25656818 )
2015
18
Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations. ( 25809079 )
2015
19
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene. ( 26597053 )
2015
20
Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations. ( 27081560 )
2015
21
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
22
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. ( 24118800 )
2014
23
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. ( 24361966 )
2014
24
Computational screening of disease-associated mutations in OCA2 gene. ( 23824587 )
2014
25
oca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish. ( 24330346 )
2014
26
Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation. ( 24387780 )
2014
27
Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes. ( 25410285 )
2014
28
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. ( 24439955 )
2014
29
Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele. ( 23572122 )
2013
30
A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis. ( 24282555 )
2013
31
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. ( 23103111 )
2013
32
Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model. ( 23601698 )
2013
33
Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes. ( 23962237 )
2013
34
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? ( 23063908 )
2012
35
A global view of the OCA2-HERC2 region and pigmentation. ( 22065085 )
2012
36
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. ( 22234890 )
2012
37
Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. ( 22718909 )
2012
38
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. ( 21541274 )
2011
39
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. ( 21085994 )
2011
40
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. ( 21392365 )
2011
41
Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations. ( 21565543 )
2011
42
Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. ( 21621018 )
2011
43
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. ( 20019752 )
2010
44
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. ( 21491616 )
2010
45
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. ( 21491617 )
2010
46
Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. ( 20308648 )
2010
47
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. ( 20221248 )
2010
48
Transcriptional activation of the general amino acid permease gene per1 by the histone deacetylase Clr6 Is regulated by Oca2 kinase. ( 20404084 )
2010
49
Human eye colour and HERC2, OCA2 and MATP. ( 20457063 )
2010
50
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. ( 20629734 )
2010

Variations for Albinism, Oculocutaneous, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Ii:

76 (show all 39)
# Symbol AA change Variation ID SNP ID
1 OCA2 p.Gly27Arg VAR_006117 rs61738394
2 OCA2 p.Ser86Arg VAR_006118 rs772243109
3 OCA2 p.Cys112Phe VAR_006119 rs562649990
4 OCA2 p.Ala368Val VAR_006124 rs61745150
5 OCA2 p.Phe385Ile VAR_006125 rs137956605
6 OCA2 p.Met395Leu VAR_006126 rs757286784
7 OCA2 p.Thr404Met VAR_006127 rs144812594
8 OCA2 p.Arg419Trp VAR_006129 rs143218168
9 OCA2 p.Val443Ile VAR_006132 rs121918166
10 OCA2 p.Met446Val VAR_006133 rs140566426
11 OCA2 p.Ile473Ser VAR_006134
12 OCA2 p.Asn489Asp VAR_006135 rs121918170
13 OCA2 p.His549Gln VAR_006136
14 OCA2 p.Thr592Ile VAR_006137 rs1800413
15 OCA2 p.Lys614Asn VAR_006138
16 OCA2 p.Trp652Arg VAR_006140 rs886043514
17 OCA2 p.Trp679Arg VAR_006141 rs751822606
18 OCA2 p.Ala724Pro VAR_006143
19 OCA2 p.Ser736Leu VAR_006144 rs780296175
20 OCA2 p.Pro743Leu VAR_006145 rs121918167
21 OCA2 p.Ala787Val VAR_006146 rs200457227
22 OCA2 p.Ala481Thr VAR_007940 rs74653330
23 OCA2 p.Arg10Trp VAR_020622 rs554862186
24 OCA2 p.Pro198Leu VAR_020623 rs183487020
25 OCA2 p.Pro211Leu VAR_020624 rs190612616
26 OCA2 p.Arg290Gly VAR_020625 rs769408559
27 OCA2 p.Ala334Val VAR_020626 rs121918168
28 OCA2 p.Met394Ile VAR_020630 rs121918171
29 OCA2 p.Lys614Glu VAR_020631
30 OCA2 p.Ile617Leu VAR_020632 rs763016773
31 OCA2 p.Trp679Cys VAR_020634 rs121918169
32 OCA2 p.Arg720Cys VAR_020636 rs141545475
33 OCA2 p.Gly795Arg VAR_020637
34 OCA2 p.Gln799His VAR_020638
35 OCA2 p.Asn476Asp VAR_043700
36 OCA2 p.Gly775Arg VAR_043701
37 OCA2 p.Tyr827His VAR_043702 rs125594344
38 OCA2 p.Val633Ile VAR_072600 rs137220006
39 OCA2 p.Phe684Cys VAR_072601 rs772754008

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Ii:

6 (show top 50) (show all 101)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.647_807del161 (p.Ser216Cysfs) deletion Pathogenic
2 OCA2 NM_000275.2(OCA2): c.1842+1G> T single nucleotide variant Pathogenic rs387906240 GRCh37 Chromosome 15, 28200303: 28200303
3 OCA2 NM_000275.2(OCA2): c.1842+1G> T single nucleotide variant Pathogenic rs387906240 GRCh38 Chromosome 15, 27955157: 27955157
4 OCA2 NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs74653330 GRCh37 Chromosome 15, 28228553: 28228553
5 OCA2 NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs74653330 GRCh38 Chromosome 15, 27983407: 27983407
6 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
7 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic rs121918166 GRCh38 Chromosome 15, 27985101: 27985101
8 OCA2 NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918167 GRCh37 Chromosome 15, 28116316: 28116316
9 OCA2 NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918167 GRCh38 Chromosome 15, 27871170: 27871170
10 OCA2 NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs) deletion Pathogenic rs387906241 GRCh37 Chromosome 15, 28171392: 28171392
11 OCA2 NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs) deletion Pathogenic rs387906241 GRCh38 Chromosome 15, 27926246: 27926246
12 OCA2 NM_000275.2(OCA2): c.1001C> T (p.Ala334Val) single nucleotide variant Pathogenic rs121918168 GRCh37 Chromosome 15, 28259965: 28259965
13 OCA2 NM_000275.2(OCA2): c.1001C> T (p.Ala334Val) single nucleotide variant Pathogenic rs121918168 GRCh38 Chromosome 15, 28014819: 28014819
14 OCA2 NG_009846.1: g.103171_225796del deletion Pathogenic GRCh37 Chromosome 15, 28123663: 28246288
15 OCA2 NG_009846.1: g.103171_225796del deletion Pathogenic GRCh38 Chromosome 15, 27878517: 28001142
16 OCA2 NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys) single nucleotide variant Pathogenic rs121918169 GRCh37 Chromosome 15, 28171315: 28171315
17 OCA2 NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys) single nucleotide variant Pathogenic rs121918169 GRCh38 Chromosome 15, 27926169: 27926169
18 OCA2 NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp) single nucleotide variant Pathogenic rs121918170 GRCh37 Chromosome 15, 28228529: 28228529
19 OCA2 NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp) single nucleotide variant Pathogenic rs121918170 GRCh38 Chromosome 15, 27983383: 27983383
20 OCA2 NM_000275.2(OCA2): c.1182G> A (p.Met394Ile) single nucleotide variant Pathogenic rs121918171 GRCh37 Chromosome 15, 28234747: 28234747
21 OCA2 NM_000275.2(OCA2): c.1182G> A (p.Met394Ile) single nucleotide variant Pathogenic rs121918171 GRCh38 Chromosome 15, 27989601: 27989601
22 MC1R NM_002386.3(MC1R): c.880G> C (p.Asp294His) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1805009 GRCh37 Chromosome 16, 89986546: 89986546
23 MC1R NM_002386.3(MC1R): c.880G> C (p.Asp294His) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1805009 GRCh38 Chromosome 16, 89920138: 89920138
24 MC1R NM_002386.3(MC1R): c.478C> T (p.Arg160Trp) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, association, risk factor rs1805008 GRCh37 Chromosome 16, 89986144: 89986144
25 MC1R NM_002386.3(MC1R): c.478C> T (p.Arg160Trp) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, association, risk factor rs1805008 GRCh38 Chromosome 16, 89919736: 89919736
26 MC1R NM_002386.3(MC1R): c.451C> T (p.Arg151Cys) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, association, risk factor rs1805007 GRCh37 Chromosome 16, 89986117: 89986117
27 MC1R NM_002386.3(MC1R): c.451C> T (p.Arg151Cys) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, association, risk factor rs1805007 GRCh38 Chromosome 16, 89919709: 89919709
28 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
29 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh38 Chromosome 9, 12695626: 12695626
30 OCA2 NC_000015.10: g.27874792_28058639del deletion Pathogenic GRCh38 Chromosome 15, 27874792: 28058639
31 OCA2 NC_000015.10: g.27874792_28058639del deletion Pathogenic GRCh37 Chromosome 15, 28119938: 28303785
32 OCA2 NM_000275.2(OCA2): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs61745150 GRCh37 Chromosome 15, 28235735: 28235735
33 OCA2 NM_000275.2(OCA2): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs61745150 GRCh38 Chromosome 15, 27990589: 27990589
34 OCA2 NM_000275.2(OCA2): c.1183A> C (p.Met395Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs757286784 GRCh37 Chromosome 15, 28231789: 28231789
35 OCA2 NM_000275.2(OCA2): c.1183A> C (p.Met395Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs757286784 GRCh38 Chromosome 15, 27986643: 27986643
36 OCA2 NM_000275.2(OCA2): c.1239+5G> C single nucleotide variant Uncertain significance rs757119713 GRCh37 Chromosome 15, 28231728: 28231728
37 OCA2 NM_000275.2(OCA2): c.1239+5G> C single nucleotide variant Uncertain significance rs757119713 GRCh38 Chromosome 15, 27986582: 27986582
38 OCA2 NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh37 Chromosome 15, 28116337: 28116337
39 OCA2 NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh38 Chromosome 15, 27871191: 27871191
40 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh37 Chromosome 15, 28090112: 28090112
41 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh38 Chromosome 15, 27844966: 27844966
42 OCA2 NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) indel Pathogenic/Likely pathogenic rs797044784 GRCh37 Chromosome 15, 28261318: 28261321
43 OCA2 NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) indel Pathogenic/Likely pathogenic rs797044784 GRCh38 Chromosome 15, 28016172: 28016175
44 OCA2 NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg) single nucleotide variant Likely pathogenic rs879253729 GRCh38 Chromosome 15, 27926237: 27926237
45 OCA2 NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg) single nucleotide variant Likely pathogenic rs879253729 GRCh37 Chromosome 15, 28171383: 28171383
46 OCA2 NM_000275.2(OCA2): c.1044+1G> T single nucleotide variant Pathogenic rs185504549 GRCh38 Chromosome 15, 28014775: 28014775
47 OCA2 NM_000275.2(OCA2): c.1044+1G> T single nucleotide variant Pathogenic rs185504549 GRCh37 Chromosome 15, 28259921: 28259921
48 OCA2 NM_000275.2(OCA2): c.647-?_890+?del deletion Pathogenic
49 OCA2 NM_000275.2(OCA2): c.647-?_807+?del deletion Pathogenic
50 OCA2 NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg) single nucleotide variant Likely pathogenic rs797045839 GRCh37 Chromosome 15, 28090193: 28090193

Cosmic variations for Albinism, Oculocutaneous, Type Ii:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,back,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 0
2 COSM584 NRAS skin,back,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 0
3 COSM476 BRAF skin,back,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 0

Expression for Albinism, Oculocutaneous, Type Ii

Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Ii.

Pathways for Albinism, Oculocutaneous, Type Ii

Pathways related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Albinism, Oculocutaneous, Type Ii

Cellular components related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.33 SLC24A5 TYR TYRP1
2 BLOC-2 complex GO:0031084 8.96 HPS5 HPS6
3 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

Biological processes related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 9.4 SLC24A4 SLC24A5
2 organelle organization GO:0006996 9.37 HPS5 HPS6
3 melanin biosynthetic process GO:0042438 9.35 MC1R OCA2 SLC45A2 TYR TYRP1
4 melanocyte differentiation GO:0030318 9.33 HPS6 OCA2 TYRP1
5 developmental pigmentation GO:0048066 9.32 OCA2 SLC45A2
6 eye pigment biosynthetic process GO:0006726 9.26 OCA2 TYR
7 pigmentation GO:0043473 9.1 HPS5 HPS6 MC1R OCA2 TYR TYRP1

Molecular functions related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 8.96 SLC24A4 SLC24A5
2 calcium, potassium:sodium antiporter activity GO:0008273 8.62 SLC24A4 SLC24A5

Sources for Albinism, Oculocutaneous, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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38 KEGG
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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