OCA2
MCID: ALB021
MIFTS: 57

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 57 40
Oca2 57 12 24 53 59 75
Oculocutaneous Albinism Type 2 76 24 53 59 73
Tyrosinase-Positive Oculocutaneous Albinism 53 29 6
Oculocutaneous Albinism Type Ii 12 75 15
Brown Oculocutaneous Albinism 75 6 73
Oculocutaneous Albinism, Tyrosinase-Positive 57 12
Albinism, Brown Oculocutaneous 57 13
Albinism Ii 57 75
Albinoidism 53 73
Albinism, Oculocutaneous, Type Ii, Modifier of 57
Oculocutaneous Albinism, Type Ii, Modifier of 6
Oculocutaneous Albinism, Tyrosinase Positive 76
Oculocutaneous Albinism Tyrosinase Positive 53
Oculocutaneous Albinism Tyrosinase-Positive 75
Oculocutaneous Albinism, Type Ii 57
Albinism, Oculocutaneous, Type 2 53
Albinism, Oculocutaneous, 2 75
Albinism 2 53
Oca-2 75
Boca 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
albinism, oculocutaneous, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Ii

OMIM : 57 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 are Cushing syndrome and Melanin biosynthesis. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and visual impairment

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

NIH Rare Diseases : 53 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 : 75 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 : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type iii 32.3 OCA2 SLC45A2 TYR TYRP1
2 congenital nystagmus 32.3 MC1R OCA2 TYR
3 acute contagious conjunctivitis 32.1 MC1R OCA2 TYR
4 acute conjunctivitis 31.8 MC1R OCA2
5 albinism 31.8 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
6 dyschromatosis symmetrica hereditaria 31.6 OCA2 TYR
7 ocular albinism 31.5 OCA2 SLC45A2 TYR TYRP1
8 oculocutaneous albinism 31.2 HPS5 HPS6 MC1R OCA2 SLC24A5 SLC45A2
9 hermansky-pudlak syndrome 1 31.1 OCA2 SLC24A5 SLC45A2 TYR
10 pathologic nystagmus 30.9 HPS5 HPS6 OCA2 SLC45A2 TYR
11 albinism, oculocutaneous, type ib 30.9 OCA2 SLC24A5 SLC45A2 TYR TYRP1
12 albinism, oculocutaneous, type vii 30.9 OCA2 SLC24A5 SLC45A2 TYR TYRP1
13 albinism, oculocutaneous, type ia 30.9 OCA2 SLC24A5 SLC45A2 TYR TYRP1
14 albinism, oculocutaneous, type v 30.7 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
15 albinism, oculocutaneous, type iv 30.7 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
16 melanoma, cutaneous malignant 1 30.1 ASIP MC1R TYRP1
17 brachymetapody-anodontia-hypotrichosis-albinoidism 12.1
18 skin/hair/eye pigmentation, variation in, 1 11.3
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 11.0
24 cole disease 11.0
25 hypomelanotic disorder 11.0
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 10.5
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 10.1 TYR TYRP1
39 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 MC1R TYR TYRP1
40 estrogen-receptor negative breast cancer 10.0
41 sickle cell disease 10.0
42 hermansky-pudlak syndrome without pulmonary fibrosis 10.0 HPS5 HPS6
43 chediak-higashi syndrome 10.0 TYR TYRP1
44 hermansky-pudlak syndrome 6 10.0 HPS5 HPS6
45 hermansky-pudlak syndrome 5 9.9 HPS5 HPS6
46 microphthalmia 9.9 MC1R TYR TYRP1
47 vogt-koyanagi-harada disease 9.9 TYR TYRP1
48 strabismus 9.8 SLC24A5 TYR TYRP1
49 hermansky-pudlak syndrome 3 9.7 HPS5 HPS6 TYR TYRP1
50 hermansky-pudlak syndrome 9.7 HPS5 HPS6 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
3 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
4 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
5 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
6 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
7 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
8 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
9 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
10 albinism 59 32 frequent (33%) Frequent (79-30%) HP:0001022
11 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
12 myopia 32 HP:0000545
13 reduced visual acuity 32 HP:0007663
14 hypopigmentation of hair 59 Frequent (79-30%)
15 blue irides 32 HP:0000635
16 hypopigmentation of the fundus 32 HP:0007894
17 hypoplasia of the fovea 32 HP:0007750
18 hypopigmentation of the skin 59 Frequent (79-30%)
19 exotropia 32 HP:0000577
20 red hair 32 HP:0002297
21 freckles in sun-exposed areas 32 HP:0007603

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

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ASIP HPS5 HPS6 MC1R OCA2 SLC24A4
2 craniofacial MP:0005382 10.15 ASIP HPS5 HPS6 MC1R OCA2 SLC24A4
3 hearing/vestibular/ear MP:0005377 10.06 ASIP HPS5 HPS6 MC1R OCA2 SLC24A5
4 homeostasis/metabolism MP:0005376 10.06 ASIP HPS5 HPS6 OCA2 SLC24A4 SLC24A5
5 behavior/neurological MP:0005386 10.05 ASIP MC1R OCA2 SLC24A5 SLC45A2 TYR
6 hematopoietic system MP:0005397 9.98 ASIP HPS5 HPS6 MC1R OCA2 SLC24A4
7 integument MP:0010771 9.97 ASIP HPS5 HPS6 MC1R OCA2 SLC24A5
8 immune system MP:0005387 9.91 ASIP HPS5 HPS6 MC1R OCA2 SLC24A4
9 pigmentation MP:0001186 9.81 ASIP HPS5 HPS6 MC1R OCA2 SLC24A5
10 limbs/digits/tail MP:0005371 9.65 ASIP HPS5 MC1R OCA2 TYR
11 renal/urinary system MP:0005367 9.35 ASIP HPS5 HPS6 OCA2 TYR
12 vision/eye MP:0005391 9.23 ASIP HPS5 HPS6 OCA2 SLC24A5 SLC45A2

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 29 MC1R OCA2

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

41
Skin, Eye, Retina, Testes, Breast

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show all 37)
# Title Authors Year
1
OCA2 rs4778137 polymorphism predicts survival of breast cancer patients receiving neoadjuvant chemotherapy. ( 29409738 )
2018
2
CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus. ( 29555241 )
2018
3
Mutational analysis of a Chinese family with oculocutaneous albinism type 2. ( 29050284 )
2017
4
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
5
The transcription factor TBX2 regulates melanogenesis in melanocytes by repressing Oca2. ( 26971330 )
2016
6
Importance of nonsynonymous OCA2 variants in human eye color prediction. ( 27468418 )
2016
7
Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2. ( 25656818 )
2015
8
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene. ( 26597053 )
2015
9
Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations. ( 27081560 )
2015
10
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. ( 25455140 )
2014
11
oca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish. ( 24330346 )
2014
12
Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes. ( 25410285 )
2014
13
Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes. ( 23962237 )
2013
14
A global view of the OCA2-HERC2 region and pigmentation. ( 22065085 )
2012
15
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
16
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
17
Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. ( 21621018 )
2011
18
Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II. ( 21491616 )
2010
19
Transcriptional activation of the general amino acid permease gene per1 by the histone deacetylase Clr6 Is regulated by Oca2 kinase. ( 20404084 )
2010
20
A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population. ( 19397757 )
2009
21
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. ( 17767372 )
2007
22
Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. ( 16199032 )
2006
23
Characterization of OCA2 cDNA in different porcine breeds and analysis of its potential effect on skin pigmentation in a red Iberian strain. ( 16573532 )
2006
24
Analysis of a SNP in exon 7 of equine OCA2 and its exclusion as a cause for appaloosa spotting. ( 16978190 )
2006
25
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. ( 15942220 )
2005
26
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. ( 12469324 )
2003
27
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). ( 12876664 )
2003
28
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. ( 12713581 )
2003
29
Physical and linkage mapping of the porcine pink-eye dilution gene ( OCA2 ). ( 12354157 )
2002
30
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ( 11310796 )
2001
31
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. ( 11384158 )
2001
32
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. ( 10905897 )
2000
33
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. ( 9341887 )
1997
34
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. ( 8980282 )
1997
35
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. ( 8723691 )
1996
36
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). ( 7874125 )
1994
37
Oculocutaneous Albinism Type 2 ( 20301410 )
1993

Variations for Albinism, Oculocutaneous, Type Ii

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

75 (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
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 93)
# 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 Conflicting interpretations of pathogenicity rs61745150 GRCh37 Chromosome 15, 28235735: 28235735
33 OCA2 NM_000275.2(OCA2): c.1103C> T (p.Ala368Val) single nucleotide variant Conflicting interpretations of pathogenicity 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.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh37 Chromosome 15, 28116337: 28116337
37 OCA2 NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs780296175 GRCh38 Chromosome 15, 27871191: 27871191
38 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh37 Chromosome 15, 28090112: 28090112
39 OCA2 NM_000275.2(OCA2): c.2425T> A (p.Phe809Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs765779905 GRCh38 Chromosome 15, 27844966: 27844966
40 OCA2 NM_000275.2(OCA2): c.867delC (p.Ser289Argfs) deletion Pathogenic rs794727898 GRCh37 Chromosome 15, 28261273: 28261273
41 OCA2 NM_000275.2(OCA2): c.867delC (p.Ser289Argfs) deletion Pathogenic rs794727898 GRCh38 Chromosome 15, 28016127: 28016127
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 5
2 COSM584 NRAS skin,back,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 5
3 COSM476 BRAF skin,back,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 5

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
Show member pathways
11.66 ASIP MC1R TYR TYRP1
2 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 pigmentation GO:0043473 9.5 ASIP HPS5 HPS6 MC1R OCA2 TYR
2 sodium ion transmembrane transport GO:0035725 9.46 SLC24A4 SLC24A5
3 melanosome organization GO:0032438 9.43 ASIP TYRP1
4 organelle organization GO:0006996 9.4 HPS5 HPS6
5 developmental pigmentation GO:0048066 9.37 OCA2 SLC45A2
6 melanocyte differentiation GO:0030318 9.33 HPS6 OCA2 TYRP1
7 eye pigment biosynthetic process GO:0006726 9.32 OCA2 TYR
8 positive regulation of melanin biosynthetic process GO:0048023 9.26 ASIP TYRP1
9 melanin biosynthetic process GO:0042438 9.1 ASIP MC1R OCA2 SLC45A2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.16 TYR TYRP1
2 antiporter activity GO:0015297 8.96 SLC24A4 SLC24A5
3 calcium, potassium:sodium antiporter activity GO:0008273 8.62 SLC24A4 SLC24A5

Sources for Albinism, Oculocutaneous, Type Ii

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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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