OCA2
MCID: ALB021
MIFTS: 59

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 56 39
Oca2 56 12 24 52 58 73
Oculocutaneous Albinism Type 2 74 24 52 58 71
Tyrosinase-Positive Oculocutaneous Albinism 52 29 6
Oculocutaneous Albinism Type Ii 12 73 15
Brown Oculocutaneous Albinism 73 6 71
Oculocutaneous Albinism, Type Ii, Modifier of 29 6
Oculocutaneous Albinism, Tyrosinase-Positive 56 12
Albinism, Brown Oculocutaneous 56 13
Albinism Ii 56 73
Albinoidism 52 71
Albinism, Oculocutaneous, Type Ii, Modifier of 56
Oculocutaneous Albinism, Tyrosinase Positive 74
Oculocutaneous Albinism Tyrosinase Positive 52
Oculocutaneous Albinism Tyrosinase-Positive 73
Oculocutaneous Albinism, Type Ii 56
Albinism, Oculocutaneous, Type 2 52
Albinism, Oculocutaneous, 2 73
Albinism 2 52
Oca-2 73
Boca 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
albinism, oculocutaneous, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070096
OMIM 56 203200
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
MESH via Orphanet 44 C537730
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0268495
Orphanet 58 ORPHA79432
UMLS 71 C0268495 C0268497 C0268506

Summaries for Albinism, Oculocutaneous, Type Ii

OMIM : 56 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 skin/hair/eye pigmentation, variation in, 1 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. The drugs Imiquimod and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are iris hypopigmentation 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 : 52 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 : 73 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 : 74 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 94)
# Related Disease Score Top Affiliating Genes
1 skin/hair/eye pigmentation, variation in, 1 33.2 OCA2 HERC2
2 congenital nystagmus 32.9 TYR OCA2 MC1R
3 albinism 32.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
4 syndromic oculocutaneous albinism 31.9 SLC24A5 SLC24A4 OCA2 HPS6
5 albinism, oculocutaneous, type iii 31.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
6 ichthyosis, congenital, autosomal recessive 11 31.9 SLC45A2 SLC24A5 OCA2
7 acute conjunctivitis 31.8 TYRP1 TYR SLC45A2 OCA2
8 albinism, oculocutaneous, type vii 31.8 TYRP1 SLC45A2 SLC24A5 OCA2
9 melanoma, cutaneous malignant 1 31.7 TYRP1 TYR SLC45A2 SLC24A4 OCA2 MC1R
10 piebald trait 31.7 TYRP1 TYR SLC45A2 OCA2 MC1R
11 albinism, oculocutaneous, type v 31.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2
12 acute contagious conjunctivitis 31.5 TYRP1 TYR SLC45A2 OCA2 HPS5
13 albinism, oculocutaneous, type ib 31.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
14 albinism, oculocutaneous, type ia 31.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS3
15 prader-willi syndrome 31.2 TUBGCP5 OCA2 HERC2 GABRG3 GABRA5 APPL1
16 ocular albinism 31.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
17 hermansky-pudlak syndrome 31.1 TYRP1 TYR SLC45A2 OCA2 HPS6 HPS5
18 pathologic nystagmus 30.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
19 albinism, oculocutaneous, type iv 30.8 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
20 angelman syndrome 30.7 TUBGCP5 OCA2 MC1R HERC2 GABRG3 GABRA5
21 oculocutaneous albinism 30.5 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
22 skin carcinoma 30.5 TYRP1 TYR MC1R ASIP
23 brachymetapody-anodontia-hypotrichosis-albinoidism 12.3
24 melanoma 11.7
25 cole disease 11.2
26 cutis laxa, autosomal dominant 1 11.2
27 rabies 11.2
28 glycine encephalopathy 11.0
29 cataract 18 11.0
30 autosomal recessive congenital ichthyosis 11.0
31 chorea gravidarum 11.0
32 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 11.0
33 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 11.0
34 angelman syndrome due to maternal 15q11q13 deletion 11.0
35 autosomal recessive disease 10.4
36 dowling-degos disease 1 10.3 TYRP1 TYR
37 melanocytic nevus syndrome, congenital 10.3 TYR MC1R
38 arbitrary restriction polymorphism 1 10.3
39 ochronosis 10.3 TYRP1 TYR MC1R
40 nodular malignant melanoma 10.3 TYR MC1R
41 tietz albinism-deafness syndrome 10.3 TYRP1 TYR SLC45A2
42 melanoma, cutaneous malignant 10 10.3
43 autoimmune disease of skin and connective tissue 10.3 TYRP1 TYR MC1R
44 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3 TYRP1 TYR MC1R
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
46 alternating exotropia 10.2
47 exotropia 10.2
48 skin melanoma 10.2
49 chediak-higashi syndrome 10.2
50 basal cell carcinoma 10.2

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
2 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
3 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
6 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
7 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
8 albinism 58 31 frequent (33%) Frequent (79-30%) HP:0001022
9 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
11 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
12 myopia 31 HP:0000545
13 blue irides 31 HP:0000635
14 hypopigmentation of hair 58 Frequent (79-30%)
15 reduced visual acuity 31 HP:0007663
16 hypopigmentation of the fundus 31 HP:0007894
17 hypoplasia of the fovea 31 HP:0007750
18 hypopigmentation of the skin 58 Frequent (79-30%)
19 exotropia 31 HP:0000577
20 red hair 31 HP:0002297
21 freckles in sun-exposed areas 31 HP:0007603

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
foveal hypoplasia
decreased visual acuity
decreased retinal pigmentation
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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 APPL1 ASIP GABRG3 HERC2 HPS4 HPS5
2 behavior/neurological MP:0005386 10.27 APPL1 ASIP GABRA5 HERC2 HPS6 MC1R
3 craniofacial MP:0005382 10.22 ASIP HPS4 HPS5 HPS6 MC1R OCA2
4 homeostasis/metabolism MP:0005376 10.18 APPL1 ASIP HERC2 HPS3 HPS4 HPS5
5 hematopoietic system MP:0005397 10.14 APPL1 ASIP HPS3 HPS4 HPS5 HPS6
6 hearing/vestibular/ear MP:0005377 10.13 ASIP GABRA5 HPS4 HPS5 HPS6 MC1R
7 immune system MP:0005387 10.02 APPL1 ASIP HPS3 HPS5 HPS6 MC1R
8 integument MP:0010771 10 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
9 no phenotypic analysis MP:0003012 9.7 APPL1 GABRA5 HPS3 HPS5 MC1R OCA2
10 pigmentation MP:0001186 9.7 ASIP HPS3 HPS4 HPS5 HPS6 MC1R
11 vision/eye MP:0005391 9.32 ASIP HPS3 HPS4 HPS5 HPS6 OCA2

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ii

Drugs for Albinism, Oculocutaneous, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
2 Immunologic Factors Phase 3
3 Adjuvants, Immunologic Phase 3
4 interferons Phase 3
5
Lamivudine Approved, Investigational Phase 1, Phase 2 134678-17-4 60825
6
Ethanol Approved Phase 2 64-17-5 702
7
Memantine Approved, Investigational Phase 2 19982-08-2 4054
8
Levodopa Approved Phase 2 59-92-7 6047
9
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
10
Carbidopa Approved Phase 2 28860-95-9 34359
11 Antibodies Phase 1, Phase 2
12 Rho(D) Immune Globulin Phase 1, Phase 2
13 Immunoglobulins, Intravenous Phase 1, Phase 2
14 Liver Extracts Phase 1, Phase 2
15 gamma-Globulins Phase 1, Phase 2
16 Immunoglobulins Phase 1, Phase 2
17 Immunoglobulin G Phase 1, Phase 2
18 Excitatory Amino Acid Antagonists Phase 2
19 Antiparkinson Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Carbidopa, levodopa drug combination Phase 2
22 Dopamine Agents Phase 2
23 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
24 Soy Bean
25 Nutrients

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Randomized, Single Blinded Trial to Evaluate the Efficacy of Imiquimod in Women With Residual/Recurrent Cervical Intraepithelial Neoplasia (CIN) After Previous Treatment Unknown status NCT02669459 Phase 3 Imiquimod
2 Study to Assess the Pharmacokinetics of Intravenous Nabi 5% Hepatitis B Immune Globulin Used in Combination With Lamivudine Completed NCT01421212 Phase 1, Phase 2
3 Medications Development for Alcohol Abuse: NMDA Agents -- A Placebo-Controlled Trial of Memantine for Alcohol Dependence Completed NCT00246415 Phase 2 Memantine
4 Interventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous Albinism Terminated NCT01663935 Phase 2 Levodopa/carbidopa
5 Influence of Leukocyte- and Platelet Rich Fibrin (L-PRF) on the Outcomes of Impacted Mandibular Third Molar Removal Surgery: a Split-mouth Randomized Clinical Trial Unknown status NCT03357484
6 Study of Breast Cancer Associated Antibodies Unknown status NCT00331942
7 Study to Assess the Effectiveness of the CAAb Test With Ovarian Cancer Patients Unknown status NCT00327925
8 A Study to Investigate the Benefit Of Complex Fractionated Atrial Electrogram (CFAE) Ablation in Addition to Circumferential Pulmonary Vein and Linear Ablations in the Treatment of Persistent Atrial Fibrillation. (BOCA) Completed NCT01711047
9 The Effects of Consuming Beef vs. Soy-rich Lunch Meals, Matched for Macronutrient Content or Serving Size, on Markers of Appetite Control and Satiety Completed NCT02285907
10 Longitudinal Cognitive Assessment by BoCA Recruiting NCT04114994
11 Retrospective Study From November 2019 -Febrauary 2020 on Severe Respiratory Illness to Access the Presence or Absence of COVID-19 in Patients Samples by Real-time PcR Recruiting NCT04346056
12 A Cluster-specific Pre-post Trial With Randomized and Staggered Implementation to Evaluate the Effectiveness of an Electronic ICU Medical Transfer of Care Document to Improve Communication During ICU-to-Ward Transfers of Care Recruiting NCT03590002
13 Emergency Egress and Information System for Persons With Vision Loss Terminated NCT00262509

Search 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
2 Oculocutaneous Albinism, Type Ii, Modifier of 29

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

40
Skin, Eye, Retina, Testes, Breast, Liver, Bone

Publications for Albinism, Oculocutaneous, Type Ii

Articles related to Albinism, Oculocutaneous, Type Ii:

(show top 50) (show all 397)
# Title Authors PMID Year
1
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. 24 61 56 6
12469324 2003
2
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. 61 24 56 6
11179026 2001
3
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. 24 56 6 61
10649493 2000
4
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. 24 56 6 61
7920637 1994
5
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. 56 24 6
8302318 1994
6
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. 56 61 6
21085994 2011
7
Synergistic interaction of the OCA2 and OCA3 genes in a family. 6 61 56
18680187 2008
8
Genetic determinants of hair, eye and skin pigmentation in Europeans. 61 56 6
17952075 2007
9
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. 61 24 6
17568986 2007
10
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). 61 24 6
12876664 2003
11
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. 56 24 61
12713581 2003
12
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. 61 24 56
9099845 1997
13
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. 61 24 6
8980282 1997
14
Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans. 61 56 24
8723691 1996
15
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). 24 56 61
7762554 1995
16
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. 61 24 56
7887411 1995
17
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). 61 24 56
7874125 1994
18
High frequency of the Ala481Thr mutation of the P gene in the Japanese population. 6 24
12687678 2003
19
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. 24 56
8198130 1994
20
Albinism in Nigeria. A clinical and social study. 56 24
1174464 1975
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. 6 61
17767372 2007
22
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. 61 6
15942220 2005
23
Oculocutaneous Albinism Type 2 61 6
20301410 2003
24
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 61 6
9345097 1997
25
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. 56 61
8592327 1995
26
Is the MC1R variant p.R160W associated with Parkinson's? 6
26389967 2016
27
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. 6
25631192 2015
28
Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. 6
24439955 2014
29
Genetic determinants of hair color and Parkinson's disease risk. 6
19194882 2009
30
Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. 56
18449927 2008
31
Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. 24 61
17570052 2007
32
Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. 24 61
17385796 2007
33
Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. 61 24
17233754 2007
34
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. 24 61
17182896 2007
35
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. 61 24
17236130 2007
36
Albinism in Africa as a public health issue. 24 61
16916463 2006
37
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. 6
16463023 2006
38
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. 61 24
16417222 2006
39
Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans. 6
15994880 2005
40
Eye colour: portals into pigmentation genes and ancestry. 61 24
15262401 2004
41
A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. 24 61
15169604 2004
42
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. 61 24
14961451 2004
43
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. 61 24
14709592 2004
44
Sequences associated with human iris pigmentation. 24 61
14704187 2003
45
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 61 24
13680365 2003
46
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. 24 61
12749060 2003
47
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). 61 24
12727022 2003
48
Skin pigmentation, biogeographical ancestry and admixture mapping. 61 24
12579416 2003
49
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 56
12506050 2003
50
Human pigmentation genes: identification, structure and consequences of polymorphic variation. 24 61
11602344 2001

Variations for Albinism, Oculocutaneous, Type Ii

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

6 (show top 50) (show all 163) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCA2 NM_000275.3(OCA2):c.2055del (p.Phe685fs)deletion Pathogenic 430966 rs772595552 15:28171297-28171297 15:27926151-27926151
2 OCA2 NM_000275.3(OCA2):c.1182+1G>ASNV Pathogenic 436099 rs371963034 15:28234746-28234746 15:27989600-27989600
3 OCA2 NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)inversion Pathogenic 436100 15:28261319-28261320 15:28016173-28016174
4 OCA2 NM_000275.3(OCA2):c.807+1G>TSNV Pathogenic 436095 rs763219039 15:28263542-28263542 15:28018396-28018396
5 OCA2 NM_000275.3(OCA2):c.171del (p.Gln58fs)deletion Pathogenic 436098 rs1555391997 15:28326850-28326850 15:28081704-28081704
6 OCA2 NM_000275.3(OCA2):c.121_128del (p.Gly41fs)deletion Pathogenic 436097 rs1555392037 15:28326893-28326900 15:28081747-28081754
7 OCA2 NM_000275.3(OCA2):c.2080-1G>ASNV Pathogenic 436092 rs1555422232 15:28117069-28117069 15:27871923-27871923
8 OCA2 NC_000015.9:g.(28096556_28116427)_(28116428_28116982)deldeletion Pathogenic 627607 15:28096556-28116982 15:27851410-27871836
9 OCA2 NC_000015.9:g.(28231692_28234685)_(28234686_28235802)deldeletion Pathogenic 627606 15:28231692-28235802 15:27986546-27990656
10 OCA2 NC_000015.9:g.(28260053_28263554)_(28263623_28266235)deldeletion Pathogenic 634816 15:28260053-28266235
11 OCA2 NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)SNV Pathogenic 803060 15:28090178-28090178 15:27845032-27845032
12 OCA2 NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)deletion Pathogenic 627600 15:28234806-28234809 15:27989660-27989663
13 OCA2 NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs)deletion Pathogenic 952 rs1555375711 15:28263543-28263703 15:28018397-28018557
14 OCA2 NM_000275.3(OCA2):c.1842+1G>TSNV Pathogenic 953 rs387906240 15:28200303-28200303 15:27955157-27955157
15 OCA2 NM_000275.3(OCA2):c.1960del (p.Ala654fs)deletion Pathogenic 957 rs387906241 15:28171392-28171392 15:27926246-27926246
16 OCA2 NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)SNV Pathogenic 958 rs121918168 15:28259965-28259965 15:28014819-28014819
17 OCA2 NG_009846.1:g.103171_225796deldeletion Pathogenic 959 15:28123663-28246288 15:27878517-28001142
18 OCA2 NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)SNV Pathogenic 960 rs121918169 15:28171315-28171315 15:27926169-27926169
19 OCA2 NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)SNV Pathogenic 961 rs121918170 15:28228529-28228529 15:27983383-27983383
20 OCA2 NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)SNV Pathogenic 965 rs121918171 15:28234747-28234747 15:27989601-27989601
21 OCA2 NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)SNV Pathogenic 955 rs121918166 15:28230247-28230247 15:27985101-27985101
22 TYRP1 NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)SNV Pathogenic 17594 rs104894130 9:12695626-12695626 9:12695626-12695626
23 OCA2 nsv1197574deletion Pathogenic 30906 15:28119938-28303785 15:27874792-28058639
24 OCA2 NM_000275.3(OCA2):c.1044+1G>TSNV Pathogenic 209970 rs185504549 15:28259921-28259921 15:28014775-28014775
25 OCA2 NM_000275.2(OCA2):c.647-?_890+?deldeletion Pathogenic 211772
26 OCA2 NM_000275.2(OCA2):c.647-?_807+?deldeletion Pathogenic 211771
27 OCA2 NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)SNV Pathogenic 211767 rs763819379 15:28228567-28228567 15:27983421-27983421
28 OCA2 deletion Pathogenic 217806 15:27926498-28073963
29 OCA2 NM_000275.3(OCA2):c.1503+5G>ASNV Pathogenic/Likely pathogenic 211768 rs368124046 15:28228486-28228486 15:27983340-27983340
30 OCA2 NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)indel Pathogenic/Likely pathogenic 198707 rs797044784 15:28261318-28261321 15:28016172-28016175
31 OCA2 NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)SNV Pathogenic/Likely pathogenic 956 rs121918167 15:28116316-28116316 15:27871170-27871170
32 OCA2 NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)SNV Pathogenic/Likely pathogenic 617810 rs200457227 15:28090177-28090177 15:27845031-27845031
33 OCA2 NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)SNV Likely pathogenic 627603 15:28171379-28171379 15:27926233-27926233
34 OCA2 NM_000275.3(OCA2):c.1460C>A (p.Pro487His)SNV Likely pathogenic 627602 15:28228534-28228534 15:27983388-27983388
35 OCA2 NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)SNV Likely pathogenic 627601 15:28230288-28230288 15:27985142-27985142
36 MC1R NM_002386.3(MC1R):c.512C>G (p.Ala171Gly)SNV Likely pathogenic 548659 rs373224783 16:89986178-89986178 16:89919770-89919770
37 MC1R NM_002386.3(MC1R):c.517_519GTC[1] (p.Val174del)short repeat Likely pathogenic 548660 rs747777879 16:89986183-89986185 16:89919775-89919777
38 MC1R NM_002386.3(MC1R):c.894C>G (p.Tyr298Ter)SNV Likely pathogenic 548661 rs143395134 16:89986560-89986560 16:89920152-89920152
39 OCA2 NM_000275.3(OCA2):c.1637-2A>GSNV Likely pathogenic 627605 15:28202883-28202883 15:27957737-27957737
40 OCA2 NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)SNV Likely pathogenic 436090 rs141949212 15:28090198-28090198 15:27845052-27845052
41 OCA2 NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)SNV Likely pathogenic 429697 rs776814755 15:28096536-28096536 15:27851390-27851390
42 OCA2 NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)SNV Likely pathogenic 627599 15:28267710-28267710 15:28022564-28022564
43 OCA2 NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg)SNV Likely pathogenic 209969 rs879253729 15:28171383-28171383 15:27926237-27926237
44 OCA2 NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)SNV Likely pathogenic 211766 rs144812594 15:28231761-28231761 15:27986615-27986615
45 OCA2 NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg)SNV Likely pathogenic 211770 rs797045839 15:28090193-28090193 15:27845047-27845047
46 OCA2 NM_000275.3(OCA2):c.2012A>T (p.Glu671Val)SNV Likely pathogenic 211769 rs797045838 15:28171340-28171340 15:27926194-27926194
47 OCA2 NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)SNV Conflicting interpretations of pathogenicity 198063 rs183487020 15:28267700-28267700 15:28022554-28022554
48 OCA2 NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)SNV Conflicting interpretations of pathogenicity 195557 rs780296175 15:28116337-28116337 15:27871191-27871191
49 OCA2 NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)SNV Conflicting interpretations of pathogenicity 255719 rs1800408 15:28230254-28230254 15:27985108-27985108
50 OCA2 NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)SNV Conflicting interpretations of pathogenicity 954 rs74653330 15:28228553-28228553 15:27983407-27983407

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

73 (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

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 COSM118787231 skin,back,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 16

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 TYRP1 TYR SLC45A2 OCA2

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 9.46 TYRP1 TYR SLC24A5 HPS4
2 GABA-A receptor complex GO:1902711 9.32 GABRG3 GABRA5
3 intracellular vesicle GO:0097708 9.26 TYRP1 APPL1
4 BLOC-2 complex GO:0031084 9.13 HPS6 HPS5 HPS3
5 melanosome membrane GO:0033162 8.92 TYRP1 TYR SLC45A2 OCA2

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

# Name GO ID Score Top Affiliating Genes
1 organelle organization GO:0006996 9.56 HPS6 HPS5 HPS4 HPS3
2 melanocyte differentiation GO:0030318 9.55 TYRP1 SLC24A5 OCA2 HPS6 HPS4
3 positive regulation of melanin biosynthetic process GO:0048023 9.5 TYRP1 ASIP APPL1
4 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 GABRG3 GABRA5
5 melanosome organization GO:0032438 9.46 TYRP1 ASIP
6 synaptic transmission, GABAergic GO:0051932 9.43 GABRG3 GABRA5
7 melanin biosynthetic process GO:0042438 9.43 TYRP1 TYR SLC45A2 OCA2 MC1R ASIP
8 developmental pigmentation GO:0048066 9.4 SLC45A2 OCA2
9 eye pigment biosynthetic process GO:0006726 9.37 TYR OCA2
10 pigmentation GO:0043473 9.23 TYRP1 TYR OCA2 MC1R HPS6 HPS5

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

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 9.37 GABRG3 GABRA5
2 GABA-gated chloride ion channel activity GO:0022851 9.32 GABRG3 GABRA5
3 benzodiazepine receptor activity GO:0008503 9.26 GABRG3 GABRA5
4 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.16 GABRG3 GABRA5
5 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A5 SLC24A4
6 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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